Variant report

Variant	rs4082014
Chromosome Location	chr1:161510434-161510435
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	SREBP2	chr1:161509011-161510679	GM12878	blood:	n/a	n/a
2	ATF2	chr1:161509447-161510448	GM12878	blood:	n/a	n/a
3	IKZF1	chr1:161509923-161510550	GM12878	blood:	n/a	n/a
4	SP1	chr1:161509798-161510571	GM12878	blood:	n/a	n/a
5	POU2F2	chr1:161509409-161510840	GM12878	blood:	n/a	chr1:161509567-161509580
6	IRF4	chr1:161509487-161510642	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:161509482-161510784	GM12892	blood:	n/a	n/a
8	UBTF	chr1:161509771-161510604	K562	blood:	n/a	n/a
9	BATF	chr1:161509404-161510768	GM12878	blood:	n/a	chr1:161509640-161509650
10	EBF1	chr1:161510341-161510689	GM12878	blood:	n/a	n/a
11	RUNX3	chr1:161509487-161510815	GM12878	blood:	n/a	n/a
12	SP1	chr1:161509670-161510510	A549	lung:	n/a	n/a
13	CEBPB	chr1:161509526-161510729	K562	blood:	n/a	chr1:161510036-161510047
14	NR2F2	chr1:161509472-161510559	K562	blood:	n/a	n/a
15	NFIC	chr1:161509537-161510737	GM12878	blood:	n/a	n/a
16	EP300	chr1:161509823-161510451	GM12878	blood:	n/a	n/a
17	FOS	chr1:161510429-161510669	MCF10A-Er-Src	breast:	n/a	n/a
18	UBTF	chr1:161509970-161510559	K562	blood:	n/a	n/a
19	HEY1	chr1:161509597-161511030	K562	blood:	n/a	n/a
20	NFIC	chr1:161509213-161510990	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:161509636-161511552	K562	blood:	n/a	n/a
22	CEBPB	chr1:161509696-161510440	HCT-116	colon:	n/a	chr1:161510036-161510047
23	RCOR1	chr1:161509624-161510816	K562	blood:	n/a	n/a
24	NFATC1	chr1:161509578-161510536	GM12878	blood:	n/a	n/a
25	FOXM1	chr1:161509428-161510539	GM12878	blood:	n/a	n/a
26	PAX5	chr1:161509923-161510508	GM12878	blood:	n/a	n/a
27	RCOR1	chr1:161509644-161510926	IMR90	lung:	n/a	n/a
28	PML	chr1:161509438-161510736	GM12878	blood:	n/a	n/a
29	ELF1	chr1:161510426-161510733	K562	blood:	n/a	n/a
30	PAX5	chr1:161510395-161510570	GM12878	blood:	n/a	n/a
31	IRF4	chr1:161509309-161510522	GM12878	blood:	n/a	n/a
32	BCLAF1	chr1:161509594-161510520	GM12878	blood:	n/a	n/a
33	RUNX3	chr1:161509420-161510800	GM12878	blood:	n/a	n/a
34	PAX5	chr1:161509524-161510600	GM12878	blood:	n/a	n/a
35	TCF12	chr1:161509428-161510465	A549	lung:	n/a	n/a
36	TRIM28	chr1:161509423-161510762	K562	blood:	n/a	n/a
37	TAF1	chr1:161509595-161510440	H1-hESC	embryonic stem cell:	n/a	n/a
38	FOXM1	chr1:161509421-161510709	GM12878	blood:	n/a	n/a
39	JUN	chr1:161509275-161510937	K562	blood:	n/a	chr1:161509638-161509648 chr1:161509637-161509649 chr1:161509638-161509648 chr1:161509639-161509647
40	CBX3	chr1:161509358-161511118	K562	blood:	n/a	n/a
41	POLR2A	chr1:161509440-161510515	H1-hESC	embryonic stem cell:	n/a	n/a
42	BATF	chr1:161509905-161510563	GM12878	blood:	n/a	n/a
43	NR2F2	chr1:161509390-161511081	K562	blood:	n/a	n/a
44	HEY1	chr1:161509552-161510743	K562	blood:	n/a	n/a
45	HCFC1	chr1:161509272-161510530	Hela-S3	cervix:	n/a	n/a
46	POU2F2	chr1:161509420-161510471	GM12891	blood:	n/a	chr1:161509567-161509580
47	BCL11A	chr1:161509562-161510581	GM12878	blood:	n/a	n/a
48	CEBPB	chr1:161509409-161510766	GM12878	blood:	n/a	chr1:161510036-161510047
49	HA-E2F1	chr1:161509732-161510442	MCF-7	breast:	n/a	chr1:161510188-161510199
50	GATA1	chr1:161509498-161510749	PBDE	blood:	n/a	chr1:161510491-161510502

No.	Distal block	Cell Line	Cell type
1	chr1:161509609..161513548-chr1:161589499..161593604,6	K562	blood:
2	chr1:161510415..161513451-chr1:161591719..161594596,3	K562	blood:
3	chr1:161499216..161504414-chr1:161508501..161513426,10	K562	blood:

Variant related genes	Relation type
RPS23P10	TF binding region

Extended variants
information (count: 207 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10494359	1.00[ASN][1000 genomes]
rs10494360	1.00[ASN][1000 genomes]
rs11801022	1.00[ASN][1000 genomes]
rs11810143	1.00[ASN][1000 genomes]
rs12722986	1.00[ASN][1000 genomes]
rs12741391	1.00[ASN][1000 genomes]
rs12744234	1.00[ASN][1000 genomes]
rs12746613	1.00[ASN][1000 genomes]
rs12748656	1.00[ASN][1000 genomes]
rs12749237	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758795	1.00[ASN][1000 genomes]
rs17394957	1.00[ASN][1000 genomes]
rs17395595	1.00[ASN][1000 genomes]
rs17398689	1.00[ASN][1000 genomes]
rs17399583	1.00[ASN][1000 genomes]
rs17400053	1.00[ASN][1000 genomes]
rs17400517	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34006306	1.00[ASN][1000 genomes]
rs34370781	1.00[ASN][1000 genomes]
rs34550741	1.00[ASN][1000 genomes]
rs35046931	1.00[ASN][1000 genomes]
rs35200803	1.00[ASN][1000 genomes]
rs35620439	1.00[ASN][1000 genomes]
rs35825219	1.00[ASN][1000 genomes]
rs35949692	1.00[ASN][1000 genomes]
rs36059328	1.00[ASN][1000 genomes]
rs3845548	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657086	1.00[ASN][1000 genomes]
rs55864322	1.00[ASN][1000 genomes]
rs55971447	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56157533	1.00[ASN][1000 genomes]
rs56199187	1.00[ASN][1000 genomes]
rs61686728	1.00[ASN][1000 genomes]
rs61802846	1.00[ASN][1000 genomes]
rs66579967	1.00[ASN][1000 genomes]
rs6666989	1.00[ASN][1000 genomes]
rs6671753	1.00[ASN][1000 genomes]
rs6679543	1.00[ASN][1000 genomes]
rs66888136	1.00[ASN][1000 genomes]
rs67307769	1.00[ASN][1000 genomes]
rs67418890	1.00[ASN][1000 genomes]
rs71632979	1.00[ASN][1000 genomes]
rs71632995	1.00[ASN][1000 genomes]
rs71639062	1.00[ASN][1000 genomes]
rs72714962	1.00[ASN][1000 genomes]
rs72717013	1.00[ASN][1000 genomes]
rs72717016	1.00[ASN][1000 genomes]
rs72717018	1.00[ASN][1000 genomes]
rs72717040	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717048	1.00[ASN][1000 genomes]
rs7515174	1.00[ASN][1000 genomes]
rs7518087	1.00[ASN][1000 genomes]
rs7529225	1.00[ASN][1000 genomes]
rs7529425	1.00[ASN][1000 genomes]
rs7532275	1.00[ASN][1000 genomes]
rs7539468	1.00[ASN][1000 genomes]
rs7552317	1.00[ASN][1000 genomes]
rs867624	1.00[ASN][1000 genomes]
rs9427039	1.00[ASN][1000 genomes]
rs9427059	1.00[ASN][1000 genomes]
rs9427065	1.00[ASN][1000 genomes]
rs9427372	1.00[ASN][1000 genomes]
rs9427387	1.00[ASN][1000 genomes]
rs9427392	1.00[ASN][1000 genomes]
rs9427394	1.00[ASN][1000 genomes]
rs9427398	1.00[ASN][1000 genomes]
rs9427399	1.00[ASN][1000 genomes]
rs9427400	1.00[ASN][1000 genomes]
rs9427401	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9427402	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
9	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
10	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
11	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv433053	chr1:161389417-161673682	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv433075	chr1:161395555-161673682	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv831725	chr1:161403030-161666732	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	esv2757757	chr1:161406313-161624427	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
17	esv1821964	chr1:161410458-161642332	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	esv18665	chr1:161411989-161544650	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	esv1812323	chr1:161413114-161624425	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	esv1814016	chr1:161413114-161624425	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv427841	chr1:161413114-161624425	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv831736	chr1:161413123-161624424	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	esv1824713	chr1:161414555-161642332	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	esv1821631	chr1:161414640-161644896	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	esv2750812	chr1:161463498-161639559	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
26	esv2752696	chr1:161463498-161639559	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	esv2750813	chr1:161463498-161673682	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
28	esv2750814	chr1:161463498-161673682	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
29	esv2755678	chr1:161463498-161678377	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	esv2752664	chr1:161463601-161673682	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
31	esv2756399	chr1:161463814-161639559	Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
32	nsv433086	chr1:161465420-161639559	Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
33	esv1799809	chr1:161467963-161650576	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
34	esv1819152	chr1:161473564-161647435	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
35	esv1813267	chr1:161473564-161650576	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
36	esv1815625	chr1:161475983-161650576	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
37	esv1850573	chr1:161475983-161650576	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
38	nsv1007723	chr1:161476489-161638501	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
39	nsv8502	chr1:161477348-161646550	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
40	nsv1005277	chr1:161478524-161638501	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
41	esv2763869	chr1:161478536-161638530	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
42	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS 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	59 gene(s)	inside rSNPs	diseases
43	nsv433097	chr1:161478751-161639559	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
44	esv1815003	chr1:161479291-161647435	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
45	esv1808606	chr1:161479291-161649074	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
46	esv1805208	chr1:161479438-161648225	Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
47	nsv519779	chr1:161479745-161638386	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
48	nsv464173	chr1:161479745-161646807	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
49	nsv825176	chr1:161479845-161646878	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
50	nsv820341	chr1:161479845-161648148	Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs4082014	FCGR2C	cis	Heart Left Ventricle	GTEx
rs4082014	FCGR2C	cis	Muscle Skeletal	GTEx
rs4082014	HSPA7	cis	Muscle Skeletal	GTEx
rs4082014	FCGR2C	cis	Esophagus Muscularis	GTEx
rs4082014	HSPA7	cis	Skin Sun Exposed Lower leg	GTEx
rs4082014	HSPA7	cis	Artery Tibial	GTEx
rs4082014	FCGR2C	Cis_1M	lymphoblastoid	RTeQTL
rs4082014	FCGR2B	cis	Whole Blood	GTEx
rs4082014	FCGR2C	cis	Adipose Subcutaneous	GTEx
rs4082014	FCGR2C	cis	Artery Tibial	GTEx
rs4082014	FCGR2C	cis	Thyroid	GTEx
rs4082014	FCGR2C	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161509000-161510600	Active TSS	H1 Cell Line	embryonic stem cell
2	chr1:161509000-161510600	Active TSS	A549	lung
3	chr1:161509000-161510800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:161509000-161511000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:161509200-161510600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:161509200-161510600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:161509200-161510600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:161509200-161510600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:161509200-161510600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr1:161509200-161510600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:161509200-161510800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr1:161509200-161511200	Active TSS	K562	blood
13	chr1:161509400-161510600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:161509400-161510600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr1:161509600-161510600	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:161509600-161510600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr1:161509600-161510800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr1:161509600-161510800	Active TSS	Right Ventricle	heart
19	chr1:161510000-161510600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:161510000-161510600	Active TSS	Duodenum Mucosa	Duodenum
21	chr1:161510000-161510800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:161510000-161510800	Enhancers	Pancreas	Pancrea
23	chr1:161510000-161511400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:161510000-161515400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:161510200-161510600	Enhancers	Spleen	Spleen
26	chr1:161510200-161510600	Active TSS	HepG2	liver
27	chr1:161510200-161510800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:161510200-161510800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:161510200-161510800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:161510200-161510800	Enhancers	Brain Anterior Caudate	brain
31	chr1:161510200-161510800	Flanking Active TSS	Hela-S3	cervix
32	chr1:161510200-161511200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:161510400-161510600	Active TSS	Primary B cells from cord blood	blood
34	chr1:161510400-161510600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr1:161510400-161510600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:161510400-161510600	Enhancers	Adipose Nuclei	Adipose
37	chr1:161510400-161510600	Active TSS	GM12878-XiMat	blood
38	chr1:161510400-161510800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr1:161510400-161510800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr1:161510400-161510800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:161510400-161512000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:161510400-161512400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:161510400-161512400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:161510400-161512600	Enhancers	Primary B cells from peripheral blood	blood
45	chr1:161510400-161512800	Enhancers	Primary T cells from cord blood	blood
46	chr1:161510400-161513600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:161510400-161514800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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