Variant report

Variant	rs7633004
Chromosome Location	chr3:156875341-156875342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr3:156875261-156875461	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:156875169-156879293	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:156875218-156875379	GM12891	blood:	n/a	n/a
4	POLR2A	chr3:156875302-156879130	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:156874371-156879129	GM12891	blood:	n/a	n/a
6	POLR2A	chr3:156873921-156879347	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:156875328-156875470	MCF-7	breast:	n/a	n/a
8	POLR2A	chr3:156874146-156879345	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:156875313-156876762	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr3:156873884-156878741	A549	lung:	n/a	n/a
11	POLR2A	chr3:156861007-156879269	K562	blood:	n/a	n/a
12	POLR2A	chr3:156863231-156878853	HepG2	liver:	n/a	n/a
13	HCFC1	chr3:156873857-156879327	Hela-S3	cervix:	n/a	n/a
14	E2F4	chr3:156875239-156875514	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr3:156873300-156879147	GM12878	blood:	n/a	n/a
16	CEBPB	chr3:156875065-156875383	Hela-S3	cervix:	n/a	chr3:156875218-156875229
17	POLR2A	chr3:156875088-156879191	Hela-S3	cervix:	n/a	n/a
18	CHD1	chr3:156868741-156879284	IMR90	lung:	n/a	n/a
19	POLR2A	chr3:156863168-156879174	Hela-S3	cervix:	n/a	n/a
20	NFATC1	chr3:156874246-156875473	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:156874024-156879286	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:156832411..156834031-chr3:156873705..156875895,2	K562	blood:
2	chr3:156271311..156273163-chr3:156875258..156877901,2	MCF-7	breast:
3	chr3:156836991..156839534-chr3:156873890..156875954,2	K562	blood:
4	chr17:43225580..43226166-chr3:156874700..156875650,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CCNL1	TF binding region
ENSG00000114850	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10936061	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936062	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936063	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936064	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936065	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936066	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10936067	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10936068	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10936069	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10936074	0.92[EUR][1000 genomes]
rs10936075	0.81[EUR][1000 genomes]
rs12488480	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12489453	0.93[EUR][1000 genomes]
rs12489799	0.94[EUR][1000 genomes]
rs12490836	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12492801	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12496051	0.93[EUR][1000 genomes]
rs12496111	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12497891	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12630209	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12633429	0.81[EUR][1000 genomes]
rs12634818	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12635088	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636125	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16827318	0.93[EUR][1000 genomes]
rs16827352	0.92[EUR][1000 genomes]
rs17552941	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995304	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2321740	0.86[EUR][1000 genomes]
rs35910014	0.93[EUR][1000 genomes]
rs3935750	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272613	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4371471	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383467	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413278	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4608646	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679788	0.93[EUR][1000 genomes]
rs4680340	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4680343	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680345	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680349	0.84[EUR][1000 genomes]
rs5003893	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55828309	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55835412	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55949516	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55953639	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56078410	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56263456	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57322659	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57511361	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59210914	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59279023	0.92[EUR][1000 genomes]
rs59485606	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59865540	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60153077	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61149035	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62274129	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62274155	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274156	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274159	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276460	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276461	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276462	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276465	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62276470	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62276471	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62276474	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62276475	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62276479	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62276480	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62276488	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62276489	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62276490	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62276491	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62276495	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62276496	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62276497	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62276501	0.94[EUR][1000 genomes]
rs62276502	0.94[EUR][1000 genomes]
rs62276504	0.93[EUR][1000 genomes]
rs62276505	0.92[EUR][1000 genomes]
rs6441115	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441116	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441119	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768052	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6768074	0.92[EUR][1000 genomes]
rs6780205	0.92[EUR][1000 genomes]
rs6781682	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6792479	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6805989	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806232	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6809307	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73154633	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73154649	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73154657	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73154659	0.93[EUR][1000 genomes]
rs73154671	0.85[EUR][1000 genomes]
rs73154682	0.83[EUR][1000 genomes]
rs73873800	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7610214	0.81[EUR][1000 genomes]
rs7621912	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626589	0.94[EUR][1000 genomes]
rs7648599	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7652298	0.83[EUR][1000 genomes]
rs8180056	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8180057	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8925	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs949854	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349885	chr3:156685409-156878910	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv520331	chr3:156858300-156915650	Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156848600-156876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:156855400-156877000	Weak transcription	Gastric	stomach
3	chr3:156858400-156876400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr3:156859400-156876200	Strong transcription	Placenta	Placenta
5	chr3:156861800-156875600	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr3:156863200-156876800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:156864000-156875600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:156866200-156877000	Weak transcription	Esophagus	oesophagus
9	chr3:156866400-156877000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:156867200-156875600	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:156869800-156876600	Weak transcription	Lung	lung
12	chr3:156870800-156875600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:156870800-156877000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
14	chr3:156871000-156877000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:156871000-156877000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
16	chr3:156871400-156875600	Genic enhancers	Fetal Lung	lung
17	chr3:156871400-156877000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:156871600-156875400	Enhancers	Fetal Heart	heart
19	chr3:156871600-156876400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
20	chr3:156871600-156876800	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
21	chr3:156871600-156877200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:156871600-156877200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
23	chr3:156871800-156876800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:156871800-156877000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:156871800-156879200	Active TSS	Right Ventricle	heart
26	chr3:156872000-156876600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr3:156872000-156876600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
28	chr3:156872000-156877000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
29	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
30	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
32	chr3:156872000-156877200	Transcr. at gene 5' and 3'	Osteobl	bone
33	chr3:156872000-156877800	Active TSS	Right Atrium	heart
34	chr3:156872000-156878600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:156872200-156875400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:156872200-156876000	Enhancers	Stomach Mucosa	stomach
37	chr3:156872200-156877000	Transcr. at gene 5' and 3'	HMEC	breast
38	chr3:156872200-156877200	Transcr. at gene 5' and 3'	A549	lung
39	chr3:156872200-156879000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
40	chr3:156872400-156875400	Genic enhancers	Fetal Brain Female	brain
41	chr3:156872400-156875800	Genic enhancers	Fetal Kidney	kidney
42	chr3:156872400-156876600	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr3:156872400-156876600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
44	chr3:156872400-156876800	Transcr. at gene 5' and 3'	NHLF	lung
45	chr3:156872400-156877000	Transcr. at gene 5' and 3'	K562	blood
46	chr3:156872400-156877200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
47	chr3:156872400-156877200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:156872400-156877200	Transcr. at gene 5' and 3'	NHEK	skin
49	chr3:156872400-156879200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:156872600-156876000	Genic enhancers	Brain Substantia Nigra	brain

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