Variant report

Variant	rs1132812
Chromosome Location	chr16:30198151-30198152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30198124-30198420	A549	lung:	n/a	n/a
2	MXI1	chr16:30198021-30198951	GM12878	blood:	n/a	n/a
3	POU2F2	chr16:30198049-30198697	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:30194536-30201400	GM12892	blood:	n/a	n/a
5	BCLAF1	chr16:30194548-30199158	GM12878	blood:	n/a	chr16:30195642-30195655 chr16:30197167-30197180 chr16:30194870-30194879 chr16:30194825-30194838
6	POLR2A	chr16:30198058-30198368	Hela-S3	cervix:	n/a	n/a
7	EBF1	chr16:30198050-30198423	GM12878	blood:	n/a	chr16:30198190-30198201
8	PAX5	chr16:30197694-30198500	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:30198069-30199025	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr16:30194433-30199926	HL-60	blood:	n/a	n/a
11	SP1	chr16:30198016-30198452	GM12878	blood:	n/a	chr16:30198065-30198079
12	POLR2A	chr16:30194597-30199808	GM18526	blood:	n/a	n/a
13	POLR2A	chr16:30198149-30199055	K562	blood:	n/a	n/a
14	CHD2	chr16:30197999-30198957	GM12878	blood:	n/a	n/a
15	MAX	chr16:30196402-30198966	GM12878	blood:	n/a	chr16:30197146-30197155 chr16:30197019-30197028
16	POLR2A	chr16:30194516-30201246	GM12891	blood:	n/a	n/a
17	TBL1XR1	chr16:30194777-30199078	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:30194598-30199735	GM12891	blood:	n/a	n/a
19	POU2F2	chr16:30197655-30198943	GM12891	blood:	n/a	chr16:30197780-30197792
20	PML	chr16:30193590-30199832	GM12878	blood:	n/a	n/a
21	BHLHE40	chr16:30197995-30198979	GM12878	blood:	n/a	n/a
22	YY1	chr16:30196751-30198979	GM12878	blood:	n/a	chr16:30197743-30197751 chr16:30197546-30197557 chr16:30197739-30197755
23	EBF1	chr16:30196522-30198464	GM12878	blood:	n/a	chr16:30196714-30196725 chr16:30197525-30197535 chr16:30196733-30196744 chr16:30198190-30198201 chr16:30197187-30197198 chr16:30197525-30197534
24	RUNX3	chr16:30194534-30198984	GM12878	blood:	n/a	n/a
25	POU2F2	chr16:30198123-30198329	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:30194609-30201245	GM12891	blood:	n/a	n/a
27	YY1	chr16:30198109-30198447	GM12891	blood:	n/a	n/a
28	POU2F2	chr16:30194518-30199648	GM12878	blood:	n/a	chr16:30199163-30199175 chr16:30197615-30197627 chr16:30197545-30197557 chr16:30194807-30194819 chr16:30197780-30197792 chr16:30199579-30199591
29	NR2C2	chr16:30197897-30199011	GM12878	blood:	n/a	chr16:30198565-30198574 chr16:30198563-30198576
30	POLR2A	chr16:30194580-30199785	GM19099	blood:	n/a	n/a
31	WRNIP1	chr16:30197794-30198171	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:30194633-30199700	GM12878	blood:	n/a	n/a
33	BCLAF1	chr16:30195097-30199113	GM12878	blood:	n/a	chr16:30195642-30195655 chr16:30197167-30197180
34	POLR2A	chr16:30195139-30201207	GM12891	blood:	n/a	n/a
35	POLR2A	chr16:30197754-30199184	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr16:30194493-30199165	HL-60	blood:	n/a	n/a
37	STAT5A	chr16:30197059-30198960	GM12878	blood:	n/a	chr16:30197591-30197614 chr16:30197162-30197174
38	POLR2A	chr16:30193927-30199857	GM18505	blood:	n/a	n/a
39	POLR2A	chr16:30194600-30199809	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:30197743-30198163	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr16:30198141-30198793	MCF-7	breast:	n/a	n/a
42	NFATC1	chr16:30195201-30199035	GM12878	blood:	n/a	chr16:30197015-30197028
43	POLR2A	chr16:30197894-30199170	MCF-7	breast:	n/a	n/a
44	POLR2A	chr16:30194588-30201233	GM12892	blood:	n/a	n/a
45	YY1	chr16:30198149-30198951	GM12878	blood:	n/a	n/a
46	POU2F2	chr16:30195203-30199035	GM12891	blood:	n/a	chr16:30197615-30197627 chr16:30197545-30197557 chr16:30197780-30197792
47	POLR2A	chr16:30193931-30199879	GM12892	blood:	n/a	n/a
48	POLR2A	chr16:30194608-30199114	GM10847	blood:	n/a	n/a
49	YY1	chr16:30197998-30198950	GM12892	blood:	n/a	n/a
50	TCF3	chr16:30197996-30198950	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30099194..30104975-chr16:30193189..30199409,9	MCF-7	breast:
2	chr16:30121828..30124583-chr16:30196625..30198544,2	MCF-7	breast:
3	chr16:30105196..30108316-chr16:30196676..30200078,3	MCF-7	breast:
4	chr16:30077452..30079715-chr16:30197226..30200095,2	MCF-7	breast:
5	chr16:30122556..30125865-chr16:30196040..30198997,3	K562	blood:
6	chr16:30102992..30106412-chr16:30196223..30199425,3	K562	blood:
7	chr16:30102992..30108322-chr16:30194679..30199860,7	K562	blood:
8	chr16:30124210..30124751-chr16:30198102..30199056,2	MCF-7	breast:
9	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:
10	chr16:30073832..30076686-chr16:30197424..30199809,3	MCF-7	breast:
11	chr16:30197379..30199709-chr16:30708853..30710594,2	MCF-7	breast:
12	chr16:30132759..30134974-chr16:30196981..30199413,2	MCF-7	breast:
13	chr16:30197384..30200120-chr16:30417665..30420072,2	K562	blood:
14	chr16:30122445..30125435-chr16:30197147..30198801,2	K562	blood:
15	chr16:30075111..30080393-chr16:30194482..30199026,7	MCF-7	breast:
16	chr16:30197720..30200168-chr16:30772376..30774510,2	MCF-7	breast:
17	chr16:30075696..30078954-chr16:30197360..30200413,3	K562	blood:
18	chr16:30076811..30079031-chr16:30197360..30200413,3	K562	blood:
19	chr16:30086324..30089424-chr16:30196059..30198552,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261416	TF binding region
CORO1A	TF binding region
ENSG00000196118	Chromatin interaction
ENSG00000250616	Chromatin interaction
ENSG00000102882	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000090238	Chromatin interaction
ENSG00000102886	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000149923	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11150585	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11646130	1.00[YRI][hapmap]
rs12102320	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12927190	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13331817	0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35480350	1.00[YRI][hapmap]
rs6565176	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6565182	1.00[YRI][hapmap]
rs7195182	0.81[EUR][1000 genomes]
rs8057425	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs930392	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1780	chr16:29438907-30213427	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	251 gene(s)	inside rSNPs	diseases
2	nsv817565	chr16:29439269-30332014	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
3	nsv533011	chr16:29452333-30334631	Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
4	nsv817450	chr16:29478059-30332014	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	249 gene(s)	inside rSNPs	diseases
5	nsv916456	chr16:29478060-30332569	Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	249 gene(s)	inside rSNPs	diseases
6	esv3368454	chr16:29485699-30225139	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
7	esv3449004	chr16:29486641-30208394	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	241 gene(s)	inside rSNPs	diseases
8	esv3406689	chr16:29486703-30210584	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	241 gene(s)	inside rSNPs	diseases
9	nsv1057705	chr16:29517699-30306956	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	246 gene(s)	inside rSNPs	diseases
10	nsv1064865	chr16:29517699-30320308	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	246 gene(s)	inside rSNPs	diseases
11	nsv533012	chr16:29577761-30198600	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
12	nsv532923	chr16:29577762-30198600	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
13	nsv916657	chr16:29590554-30332014	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
14	nsv1067735	chr16:29592783-30332581	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
15	nsv529109	chr16:29592783-30332581	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
16	nsv916238	chr16:29592791-30332569	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	244 gene(s)	inside rSNPs	diseases
17	nsv1060018	chr16:29600880-30226931	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	241 gene(s)	inside rSNPs	diseases
18	nsv533013	chr16:29612214-30198600	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
19	esv2830413	chr16:29620488-30199507	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
20	nsv916382	chr16:29620689-30332014	Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
21	nsv905714	chr16:29624247-30208614	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
22	nsv431445	chr16:29652488-30328317	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
23	nsv571814	chr16:29655864-30215621	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
24	nsv817378	chr16:29656684-30332591	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
25	nsv533014	chr16:29656684-30334631	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
26	nsv1061165	chr16:29657389-30363743	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
27	nsv571815	chr16:29661217-30199679	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
28	nsv948506	chr16:29673203-30320307	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
29	nsv1067737	chr16:29673954-30198600	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
30	nsv532945	chr16:29673954-30198600	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
31	nsv1067742	chr16:29673954-30332581	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
32	nsv533015	chr16:29673954-30332581	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
33	nsv532947	chr16:29673956-30198600	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
34	nsv533272	chr16:29673967-30332569	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
35	nsv532956	chr16:29855931-30198600	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
36	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
37	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
38	nsv905720	chr16:30066892-30208614	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
39	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
40	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
41	nsv905721	chr16:30141258-30198151	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
42	nsv571819	chr16:30158757-30215621	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
43	nsv905722	chr16:30168507-30199571	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
44	nsv905723	chr16:30187676-30205302	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
45	nsv9431	chr16:30190537-30229846	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
46	esv1833288	chr16:30192562-30317178	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
47	esv1829730	chr16:30192562-30359312	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
48	esv21428	chr16:30197831-30305244	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
49	esv1833537	chr16:30197879-30226407	Enhancers Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
50	esv1810780	chr16:30198079-30320296	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1132812	RP11-231C14.3	cis	Muscle Skeletal	GTEx
rs1132812	BOLA2///LOC440354///LOC595101	N/A	lymphoblastoid	RTeQTL
rs1132812	IMAA///LOC440345///LOC440354///LOC595101///	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30194400-30198400	Weak transcription	Fetal Heart	heart
2	chr16:30195000-30205800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:30195200-30199400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
4	chr16:30195400-30198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:30195400-30199200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
6	chr16:30195600-30198200	Weak transcription	NHLF	lung
7	chr16:30195600-30198600	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr16:30195600-30198800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
9	chr16:30195600-30199200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:30195600-30199600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
11	chr16:30195800-30198200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr16:30195800-30198400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:30195800-30198400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:30195800-30198800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
15	chr16:30195800-30198800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:30195800-30199000	Enhancers	K562	blood
17	chr16:30195800-30199800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:30196000-30198800	Enhancers	Fetal Brain Male	brain
19	chr16:30196000-30199000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
20	chr16:30196000-30199000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:30196000-30199000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
22	chr16:30196000-30199800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
23	chr16:30196000-30200600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr16:30196000-30205800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:30196200-30198200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:30196200-30198400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:30196200-30198600	Weak transcription	Pancreas	Pancrea
28	chr16:30196200-30199000	Enhancers	HepG2	liver
29	chr16:30196200-30199600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:30196200-30199600	Weak transcription	Fetal Lung	lung
31	chr16:30196200-30201000	Weak transcription	NHEK	skin
32	chr16:30196400-30198400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr16:30196400-30198600	Weak transcription	Left Ventricle	heart
34	chr16:30196400-30198800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
35	chr16:30196400-30205800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:30196400-30205800	Weak transcription	Brain Substantia Nigra	brain
37	chr16:30196400-30205800	Weak transcription	Right Atrium	heart
38	chr16:30196600-30198200	Weak transcription	Stomach Mucosa	stomach
39	chr16:30196600-30198600	Weak transcription	Liver	Liver
40	chr16:30196600-30199000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:30196800-30198200	Weak transcription	Gastric	stomach
42	chr16:30196800-30198200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr16:30196800-30198200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr16:30196800-30198400	Weak transcription	Fetal Intestine Large	intestine
45	chr16:30196800-30198400	Weak transcription	HMEC	breast
46	chr16:30196800-30198600	Weak transcription	Lung	lung
47	chr16:30197000-30198400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
48	chr16:30197000-30198600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr16:30197000-30199200	Enhancers	Placenta	Placenta
50	chr16:30197200-30198200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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