Variant report

Variant	rs2233474
Chromosome Location	chr3:50388607-50388608
allele	G/T
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	NFIC	chr3:50387813-50388891	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr3:50388500-50388650	AG04449	skin:	n/a	n/a
3	POLR2A	chr3:50387957-50388868	HCT-116	colon:	n/a	n/a
4	CTCF	chr3:50388528-50388608	GM12892	blood:	n/a	n/a
5	WRNIP1	chr3:50388093-50388936	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr3:50387793-50388886	SK-N-SH	brain:	n/a	n/a
7	ELF1	chr3:50388064-50388687	K562	blood:	n/a	chr3:50388302-50388311 chr3:50388301-50388312 chr3:50388346-50388358 chr3:50388301-50388312
8	MXI1	chr3:50388021-50388953	K562	blood:	n/a	n/a
9	MXI1	chr3:50387943-50388788	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr3:50388540-50388777	SK-N-SH	brain:	n/a	n/a
11	YY1	chr3:50388376-50388805	SK-N-SH_RA	brain:	n/a	n/a
12	ELK1	chr3:50388023-50388742	Hela-S3	cervix:	n/a	n/a
13	ELF1	chr3:50387977-50388829	HepG2	liver:	n/a	chr3:50388302-50388311 chr3:50388301-50388312 chr3:50388346-50388358 chr3:50388301-50388312
14	CREB1	chr3:50388008-50388718	A549	lung:	n/a	n/a
15	POLR2A	chr3:50387830-50388930	K562	blood:	n/a	n/a
16	ELF1	chr3:50388108-50388736	HepG2	liver:	n/a	chr3:50388302-50388311 chr3:50388301-50388312 chr3:50388346-50388358 chr3:50388301-50388312
17	POLR2A	chr3:50387933-50388960	NB4	blood:	n/a	n/a
18	CTCF	chr3:50388566-50388641	MCF-7	breast:	n/a	n/a
19	POLR2A	chr3:50387742-50389033	GM18505	blood:	n/a	n/a
20	POLR2A	chr3:50387717-50389490	PBDE	blood:	n/a	n/a
21	STAT5A	chr3:50387499-50389265	GM12878	blood:	n/a	chr3:50388275-50388282 chr3:50389062-50389071 chr3:50389063-50389071 chr3:50389057-50389077 chr3:50389063-50389072 chr3:50389018-50389030 chr3:50389057-50389077 chr3:50389014-50389022
22	TAL1	chr3:50388380-50388780	K562	blood:	n/a	n/a
23	MAX	chr3:50387742-50388936	MCF-7	breast:	n/a	n/a
24	NR2C2	chr3:50388089-50388699	HepG2	liver:	n/a	n/a
25	ATF3	chr3:50388345-50388722	HepG2	liver:	n/a	n/a
26	EP300	chr3:50387986-50388665	GM12878	blood:	n/a	chr3:50388304-50388311
27	RELA	chr3:50387676-50388760	GM15510	blood:	n/a	n/a
28	TBL1XR1	chr3:50388167-50388666	K562	blood:	n/a	n/a
29	EP300	chr3:50387646-50388760	HepG2	liver:	n/a	chr3:50388304-50388311
30	POLR2A	chr3:50387957-50388824	K562	blood:	n/a	n/a
31	POU2F2	chr3:50387918-50388686	GM12891	blood:	n/a	chr3:50388514-50388525
32	ATF3	chr3:50388093-50388755	GM12878	blood:	n/a	n/a
33	HA-E2F1	chr3:50388041-50388890	MCF-7	breast:	n/a	chr3:50388338-50388353
34	SIN3AK20	chr3:50388157-50388842	H1-hESC	embryonic stem cell:	n/a	n/a
35	MYC	chr3:50388118-50388644	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr3:50387944-50388844	ECC-1	luminal epithelium:	n/a	n/a
37	ETS1	chr3:50388019-50388759	GM12878	blood:	n/a	chr3:50388303-50388312 chr3:50388273-50388287 chr3:50388577-50388590 chr3:50388304-50388314 chr3:50388508-50388521 chr3:50388303-50388312
38	JUN	chr3:50388171-50388720	K562	blood:	n/a	n/a
39	E2F4	chr3:50387993-50388815	GM12878	blood:	n/a	chr3:50388338-50388353
40	E2F6	chr3:50387726-50388713	H1-hESC	embryonic stem cell:	n/a	chr3:50388338-50388353
41	TBP	chr3:50387940-50388700	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr3:50387879-50389481	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr3:50388500-50388650	SK-N-SH_RA	brain:	n/a	n/a
44	POLR2A	chr3:50387756-50388987	HL-60	blood:	n/a	n/a
45	GTF2F1	chr3:50387885-50388922	Hela-S3	cervix:	n/a	n/a
46	YY1	chr3:50387897-50388701	GM12892	blood:	n/a	n/a
47	POLR2A	chr3:50387963-50388702	K562	blood:	n/a	n/a
48	POLR2A	chr3:50387936-50388981	HCT-116	colon:	n/a	n/a
49	ELK1	chr3:50388156-50388652	K562	blood:	n/a	n/a
50	CTCF	chr3:50388512-50388633	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50388565-50388615	MCF10A-Er-Src	breast:	n/a
2	chr3:50388565-50388615	BJ	skin:	n/a
3	chr3:50388565-50388615	GM12892	blood:	n/a
4	chr3:50388565-50388615	RPTEC	kidney:	n/a
5	chr3:50388565-50388615	HL-60	blood:	n/a
6	chr3:50388565-50388615	HAEpiC	amniotic membrane:	n/a
7	chr3:50388565-50388615	HRCEpiC	kidney:	n/a
8	chr3:50388565-50388615	Jurkat	blood:	n/a
9	chr3:50388565-50388615	K562	blood:	n/a
10	chr3:50388565-50388615	AG10803	skin:	n/a
11	chr3:50388565-50388615	Hela-S3	cervix:	n/a
12	chr3:50388565-50388615	NH-A	brain:	n/a
13	chr3:50388565-50388615	NT2-D1	testis:	n/a
14	chr3:50388565-50388615	CMK	blood:	n/a
15	chr3:50388565-50388615	NB4	blood:	n/a
16	chr3:50388565-50388615	PrEC	prostate:	n/a
17	chr3:50388565-50388615	ProgFib	skin:	n/a
18	chr3:50388565-50388615	HEK293	kidney:	embryo
19	chr3:50388565-50388615	HIPEpiC	eye:	n/a
20	chr3:50388565-50388615	GM12878	blood:	n/a
21	chr3:50388565-50388615	AG04449	skin:	fetal
22	chr3:50388565-50388615	HCPEpiC	choroid plexus:	n/a
23	chr3:50388565-50388615	A549	lung:	n/a
24	chr3:50388565-50388615	NHBE	bronchial:	n/a
25	chr3:50388565-50388615	HNPCEpiC	eye:	n/a
26	chr3:50388565-50388615	HRPEpiC	eye:	n/a
27	chr3:50388565-50388615	Caco-2	colon:	n/a
28	chr3:50388565-50388615	H1-hESC	embryonic stem cell:	embryo
29	chr3:50388565-50388615	HRE	kidney:	n/a
30	chr3:50388565-50388615	PANC-1	pancreas:	n/a
31	chr3:50388565-50388615	GM12891	blood:	n/a
32	chr3:50388565-50388615	HEEpiC	esophagus:	n/a
33	chr3:50388565-50388615	LNCaP	prostate:	n/a
34	chr3:50388565-50388615	SK-N-SH_RA	brain:	n/a
35	chr3:50388565-50388615	AG09309	skin:	n/a
36	chr3:50388565-50388615	IMR90	lung:	fetal
37	chr3:50388565-50388615	SAEC	small airway:	n/a
38	chr3:50388565-50388615	BE2_C	brain:	n/a
39	chr3:50388565-50388615	HCT-116	colon:	n/a
40	chr3:50388565-50388615	SK-N-SH	brain:	n/a
41	chr3:50388565-50388615	GM19239	blood:	n/a
42	chr3:50388565-50388615	T-47D	breast:	n/a
43	chr3:50388565-50388615	GM06990	blood:	n/a
44	chr3:50388565-50388615	Hepatocyte	liver:	n/a
45	chr3:50388565-50388615	MCF-7	breast:	n/a
46	chr3:50388565-50388615	ovcar-3	ovarian:	n/a
47	chr3:50388565-50388615	HCM	heart:	n/a
48	chr3:50388565-50388615	U87	brain:	n/a
49	chr3:50388565-50388615	SKMC	muscle:	n/a
50	chr3:50388565-50388615	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:50364156..50366133-chr3:50386766..50389569,2	MCF-7	breast:
2	chr3:50365306..50367781-chr3:50387742..50389755,3	MCF-7	breast:
3	chr3:50381268..50383319-chr3:50387134..50389655,3	MCF-7	breast:
4	chr3:50303783..50306378-chr3:50387690..50389658,2	MCF-7	breast:
5	chr3:50388042..50391116-chr3:50401183..50404211,3	K562	blood:
6	chr3:50384788..50386496-chr3:50388096..50390372,2	MCF-7	breast:
7	chr3:50387814..50389880-chr3:50646553..50649326,2	MCF-7	breast:
8	chr3:50373346..50376603-chr3:50387024..50392661,8	MCF-7	breast:
9	chr3:50386112..50390194-chr3:50392847..50399521,11	MCF-7	breast:
10	chr3:50376891..50380040-chr3:50387225..50390511,3	MCF-7	breast:

Variant related genes	Relation type
NPRL2	TF binding region
CYB561D2	TF binding region
ZMYND10	TF binding region
ZMYND10	CpG island
NPRL2	CpG island
CYB561D2	CpG island
ENSG00000235058	Chromatin interaction
ENSG00000004838	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000007402	Chromatin interaction
ENSG00000271858	Chromatin interaction
ENSG00000114737	Chromatin interaction
ENSG00000126062	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000012171	Chromatin interaction
ENSG00000232352	Chromatin interaction
ENSG00000114383	Chromatin interaction
ENSG00000114388	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10510755	0.93[CEU][hapmap]
rs1107265	0.93[ASW][hapmap];0.82[MEX][hapmap]
rs11130248	0.84[CHD][hapmap]
rs12054403	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs12485390	0.83[JPT][hapmap]
rs12485909	0.81[CHD][hapmap]
rs12488302	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs12492880	0.84[CHD][hapmap]
rs12494414	0.88[CHD][hapmap];0.87[JPT][hapmap]
rs12494849	0.93[ASW][hapmap]
rs12629572	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]
rs1467913	0.86[ASW][hapmap]
rs1467914	0.93[ASW][hapmap]
rs1989839	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[ASN][1000 genomes]
rs2071203	0.84[CHD][hapmap]
rs2071204	0.84[CHD][hapmap]
rs2071802	0.93[CEU][hapmap]
rs2071803	0.93[CEU][hapmap]
rs2073498	0.87[CEU][hapmap]
rs2073499	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073500	0.84[CHD][hapmap]
rs2233476	0.84[CHD][hapmap]
rs2236939	0.81[CEU][hapmap]
rs2236944	0.84[CHD][hapmap]
rs2236946	0.84[CHD][hapmap];0.82[JPT][hapmap]
rs2236947	0.83[YRI][hapmap]
rs2236948	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2236950	0.84[CHB][hapmap];0.88[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2236951	0.93[ASW][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2236964	0.93[ASW][hapmap];0.82[MEX][hapmap]
rs2236965	0.93[ASW][hapmap]
rs2236973	0.93[ASW][hapmap]
rs2236979	0.93[ASW][hapmap]
rs2236984	0.93[ASW][hapmap]
rs2236987	0.93[ASW][hapmap]
rs2239801	0.93[CEU][hapmap]
rs2282751	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2282753	0.93[ASW][hapmap];0.82[MEX][hapmap]
rs2282754	0.82[MEX][hapmap]
rs2285043	0.84[CHD][hapmap]
rs2298953	0.81[CHD][hapmap]
rs2298954	0.81[CHD][hapmap]
rs2301639	0.93[CEU][hapmap]
rs28365992	0.93[CEU][hapmap]
rs3213621	0.84[CHD][hapmap]
rs35455589	0.82[CHD][hapmap]
rs35587949	0.84[CHD][hapmap]
rs3774753	0.81[CHD][hapmap]
rs3774755	0.82[CHD][hapmap]
rs3806708	0.93[CEU][hapmap]
rs4141060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4688682	0.81[CHD][hapmap];0.83[JPT][hapmap]
rs4688732	0.84[CHD][hapmap]
rs4688734	0.84[CHD][hapmap]
rs4688741	0.81[CHD][hapmap]
rs57838764	0.98[ASN][1000 genomes]
rs6776145	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[ASN][1000 genomes]
rs6786523	0.86[ASW][hapmap]
rs734767	0.86[ASW][hapmap];0.82[MEX][hapmap]
rs739431	0.87[CEU][hapmap];0.96[GIH][hapmap]
rs743756	0.93[ASW][hapmap]
rs743757	0.93[ASW][hapmap];0.82[MEX][hapmap]
rs743857	0.93[ASW][hapmap]
rs762705	0.86[ASN][1000 genomes]
rs7645537	0.81[CHD][hapmap]
rs9835537	0.93[ASW][hapmap]
rs9852677	0.85[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap]
rs9883222	0.81[CHD][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS 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 miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
6	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription 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 miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
8	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription 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	104 gene(s)	inside rSNPs	diseases
9	nsv834692	chr3:50198485-50393464	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv590254	chr3:50243510-50388607	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
12	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
13	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
14	nsv590257	chr3:50302830-50393640	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	nsv590256	chr3:50302830-50420554	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
16	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak 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 miRNA target site	83 gene(s)	inside rSNPs	diseases
17	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
18	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
19	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	82 gene(s)	inside rSNPs	diseases
20	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
21	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2233474	CYB561D2	cis	multi-tissue	Pritchard
rs2233474	PCBP4	cis	parietal	SCAN
rs2233474	ZNF589	cis	cerebellum	SCAN
rs2233474	TRAIP	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50387000-50389400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr3:50387200-50389200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:50387200-50389200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr3:50387200-50389200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:50387400-50388800	Active TSS	Ovary	ovary
6	chr3:50387400-50389000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:50387400-50389000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr3:50387400-50389000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:50387400-50389000	Active TSS	HSMMtube	muscle
10	chr3:50387400-50389200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:50387400-50389200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr3:50387400-50389200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:50387400-50389200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:50387400-50389400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:50387600-50388800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr3:50387600-50388800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:50387600-50388800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:50387600-50388800	Active TSS	Aorta	Aorta
19	chr3:50387600-50388800	Active TSS	Psoas Muscle	Psoas
20	chr3:50387600-50388800	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr3:50387600-50388800	Active TSS	K562	blood
22	chr3:50387600-50389000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr3:50387600-50389400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr3:50387800-50388800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:50387800-50388800	Active TSS	Brain Hippocampus Middle	brain
26	chr3:50387800-50388800	Active TSS	Fetal Heart	heart
27	chr3:50387800-50388800	Active TSS	NHDF-Ad	bronchial
28	chr3:50387800-50389000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:50387800-50389000	Active TSS	Small Intestine	intestine
30	chr3:50388000-50388800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:50388000-50388800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:50388000-50389000	Active TSS	A549	lung
33	chr3:50388000-50389200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr3:50388200-50388800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr3:50388200-50388800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:50388200-50388800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:50388200-50388800	Active TSS	HMEC	breast
38	chr3:50388200-50388800	Active TSS	NHLF	lung
39	chr3:50388400-50389000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:50388400-50389200	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr3:50388600-50388800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:50388600-50388800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr3:50388600-50389000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:50388600-50389000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:50388600-50389000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:50388600-50389000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr3:50388600-50389000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr3:50388600-50389000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr3:50388600-50389000	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr3:50388600-50389000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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