Variant report

Variant	rs11613701
Chromosome Location	chr12:753331-753332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:751100-753463	GM18951	blood:	n/a	n/a
2	EBF1	chr12:752898-753391	GM12878	blood:	n/a	chr12:753202-753213
3	EBF1	chr12:752998-753364	GM12878	blood:	n/a	chr12:753202-753213
4	POLR2A	chr12:751839-753415	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:751690-754604	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:751667-753390	GM10847	blood:	n/a	n/a
7	POLR2A	chr12:751655-753711	GM19099	blood:	n/a	n/a
8	POLR2A	chr12:751656-753584	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:753289-753355	HUVEC	blood vessel:	n/a	n/a
10	TBL1XR1	chr12:751717-753415	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:753105-753538	MCF10A-Er-Src	breast:	n/a	n/a
12	RUNX3	chr12:751543-753475	GM12878	blood:	n/a	n/a
13	EP300	chr12:752729-753382	K562	blood:	n/a	n/a
14	POLR2A	chr12:751668-753531	HUVEC	blood vessel:	n/a	n/a
15	RCOR1	chr12:751804-753758	K562	blood:	n/a	n/a
16	POLR2A	chr12:751818-753577	GM12891	blood:	n/a	n/a
17	POLR2A	chr12:751672-753373	GM15510	blood:	n/a	n/a
18	SMC3	chr12:752225-753353	GM12878	blood:	n/a	n/a
19	MTA3	chr12:752140-753448	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:751642-753423	GM18526	blood:	n/a	n/a
21	CHD1	chr12:751725-753716	GM12878	blood:	n/a	chr12:751750-751759
22	POLR2A	chr12:751728-753346	K562	blood:	n/a	n/a
23	POLR2A	chr12:752103-753405	GM12878	blood:	n/a	n/a
24	ELF1	chr12:751561-753394	GM12878	blood:	n/a	chr12:753097-753110 chr12:753050-753063
25	ELF1	chr12:752849-753335	K562	blood:	n/a	chr12:753097-753110 chr12:753050-753063
26	SPI1	chr12:752925-753425	GM12891	blood:	n/a	n/a
27	SPI1	chr12:752692-753581	HL-60	blood:	n/a	n/a
28	SMARCB1	chr12:751619-753365	Hela-S3	cervix:	n/a	n/a
29	WRNIP1	chr12:752574-753450	GM12878	blood:	n/a	n/a
30	MTA3	chr12:751560-753873	GM12878	blood:	n/a	n/a
31	POLR2A	chr12:751718-753433	Raji	blood:	n/a	n/a
32	ELF1	chr12:751699-753353	GM12878	blood:	n/a	chr12:753097-753110 chr12:753050-753063
33	NR2F2	chr12:752969-753495	K562	blood:	n/a	n/a
34	POLR2A	chr12:751054-753818	GM19193	blood:	n/a	n/a
35	POLR2A	chr12:751409-753827	GM12892	blood:	n/a	n/a
36	MAFK	chr12:753044-753345	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:751823-753505	GM12891	blood:	n/a	n/a
38	RCOR1	chr12:752319-753387	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:751075-754526	GM12891	blood:	n/a	n/a
40	POLR2A	chr12:751654-753648	GM12892	blood:	n/a	n/a
41	POLR2A	chr12:752722-753527	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr12:751703-753788	GM12892	blood:	n/a	n/a
43	POLR2A	chr12:751641-753851	GM18505	blood:	n/a	n/a
44	SPI1	chr12:752913-753389	GM12891	blood:	n/a	n/a
45	STAT5A	chr12:751613-753495	GM12878	blood:	n/a	chr12:751829-751841 chr12:751931-751943
46	POLR2A	chr12:751756-753645	GM12878	blood:	n/a	n/a
47	EBF1	chr12:752756-753447	GM12878	blood:	n/a	chr12:753202-753213
48	POLR2A	chr12:751623-753557	K562	blood:	n/a	n/a
49	ELK1	chr12:752628-753340	GM12878	blood:	n/a	n/a
50	POLR2A	chr12:751779-753388	GM12892	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:751953..754697-chr12:859970..862221,2	K562	blood:
2	chr12:738549..743434-chr12:750658..753859,6	MCF-7	breast:
3	chr12:750256..753677-chr12:768929..774136,4	MCF-7	breast:
4	chr12:739608..744885-chr12:750259..753818,8	MCF-7	breast:
5	chr12:749128..755954-chr12:858463..864495,7	MCF-7	breast:
6	chr12:699726..702254-chr12:752995..755811,2	K562	blood:
7	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
8	chr12:751220..755551-chr12:860416..865761,8	K562	blood:
9	chr12:751801..754339-chr12:772154..775493,3	MCF-7	breast:
10	chr12:753066..755991-chr20:52956460..52959168,2	MCF-7	breast:
11	chr12:699726..702254-chr12:752995..755811,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B4GALNT3-2	chr12:753125-754581	ENSG00000177406.4
2	lnc-B4GALNT3-2	chr12:753125-754636	NONHSAT025360
3	lnc-B4GALNT3-2	chr12:753125-755044	ENSG00000177406.4
4	lnc-B4GALNT3-2	chr12:753125-753516	NONHSAT025358

No data

Variant related genes	Relation type
NINJ2	TF binding region
ENSG00000060237	Chromatin interaction
ENSG00000255825	Chromatin interaction
ENSG00000177406	Chromatin interaction
ENSG00000171840	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1052967	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10849390	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11064120	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064121	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064122	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11064128	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11064129	0.86[EUR][1000 genomes]
rs11608764	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11609955	0.85[EUR][1000 genomes]
rs11610339	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11611524	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11612275	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11612359	0.96[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11614126	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11615697	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12301300	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12303868	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12307171	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12578245	0.95[ASN][1000 genomes]
rs12579728	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12579736	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2061317	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2075032	0.89[ASN][1000 genomes]
rs2535397	0.89[ASN][1000 genomes]
rs2535405	0.91[ASN][1000 genomes]
rs2607918	0.89[ASN][1000 genomes]
rs2607920	0.89[ASN][1000 genomes]
rs55779635	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55839256	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56203073	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7135801	0.92[ASN][1000 genomes]
rs7979407	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041574	chr12:282465-812000	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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 target site	80 gene(s)	inside rSNPs	diseases
5	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1050781	chr12:321353-783899	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1040849	chr12:321619-771493	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv541322	chr12:321619-771493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1035679	chr12:321619-781558	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv1053519	chr12:321619-828175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
13	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
14	nsv1045638	chr12:349031-893536	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
15	nsv541325	chr12:349031-893536	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
16	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
17	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv949226	chr12:493900-814882	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
19	nsv898567	chr12:547683-863517	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	nsv898568	chr12:547683-969800	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
21	nsv898569	chr12:573870-776471	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv491937	chr12:574727-835424	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv1040579	chr12:575633-761560	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv1049625	chr12:595867-840090	Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	nsv541331	chr12:595867-840090	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	nsv468951	chr12:624947-783484	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	nsv470254	chr12:624947-783484	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	nsv556885	chr12:624947-783484	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	nsv556887	chr12:632240-867504	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
30	nsv1042529	chr12:634019-776371	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
31	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
32	nsv1049389	chr12:673428-778337	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
33	nsv541335	chr12:673428-778337	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
34	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
35	nsv1045227	chr12:681554-786238	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription 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	11 gene(s)	inside rSNPs	diseases
36	nsv1049913	chr12:682848-781558	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
37	nsv1044022	chr12:683606-783899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
38	nsv898573	chr12:690473-803488	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
39	nsv1040089	chr12:697209-778337	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
40	nsv541337	chr12:697209-778337	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
41	nsv1053080	chr12:706423-781558	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
42	nsv1048965	chr12:706423-803160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
43	nsv898574	chr12:708597-796131	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
44	nsv1051590	chr12:722215-974773	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
45	nsv541338	chr12:722215-974773	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
46	esv2755536	chr12:736714-768033	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
47	nsv468956	chr12:737230-982321	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases
48	nsv556893	chr12:737230-982321	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
49	nsv556895	chr12:751949-761560	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11613701	RP11-218M22.1	cis	Muscle Skeletal	GTEx
rs11613701	RP11-218M22.1	cis	Esophagus Muscularis	GTEx
rs11613701	RP11-218M22.1	cis	Artery Tibial	GTEx
rs11613701	RP11-218M22.1	cis	Nerve Tibial	GTEx
rs11613701	RP11-218M22.1	cis	Heart Left Ventricle	GTEx
rs11613701	RP11-218M22.1	cis	Adipose Subcutaneous	GTEx
rs11613701	RP11-218M22.1	cis	Esophagus Mucosa	GTEx
rs11613701	RP11-218M22.1	cis	lung	GTEx
rs11613701	RP11-218M22.1	cis	Artery Aorta	GTEx
rs11613701	RP11-218M22.1	cis	Whole Blood	GTEx
rs11613701	LOC100049716	Cis_1M	lymphoblastoid	RTeQTL
rs11613701	RP11-218M22.1	cis	Thyroid	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:747400-754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:751600-753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:752200-753400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr12:752200-753400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr12:752200-753600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr12:752200-753600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:752200-753800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr12:752400-753400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:752400-753400	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr12:752400-753400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:752400-753400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr12:752400-753400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr12:752400-753400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:752400-753400	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr12:752400-753400	Flanking Active TSS	Colonic Mucosa	Colon
16	chr12:752400-753400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr12:752400-753400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr12:752400-753600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr12:752400-753600	Flanking Active TSS	Hela-S3	cervix
20	chr12:752400-753800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:752400-753800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:752600-753400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:752600-753400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr12:752600-753400	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr12:752600-753400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:752600-753400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:752600-753400	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr12:752600-753400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:752600-753400	Flanking Active TSS	Fetal Lung	lung
30	chr12:752600-753600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr12:752600-753600	Flanking Active TSS	Liver	Liver
32	chr12:752600-753600	Flanking Active TSS	K562	blood
33	chr12:752600-753800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:752600-753800	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr12:752600-754800	Weak transcription	Ovary	ovary
36	chr12:752600-754800	Flanking Active TSS	GM12878-XiMat	blood
37	chr12:752600-755400	Weak transcription	Aorta	Aorta
38	chr12:752800-753400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:752800-753400	Flanking Active TSS	Right Ventricle	heart
40	chr12:752800-753400	Genic enhancers	A549	lung
41	chr12:752800-754400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:752800-754800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:752800-754800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:752800-755000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:752800-755000	Enhancers	HSMMtube	muscle
46	chr12:752800-755200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:752800-755600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:752800-755600	Enhancers	NH-A	brain
49	chr12:752800-756400	Enhancers	HSMM	muscle
50	chr12:752800-756400	Enhancers	NHLF	lung

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