Variant report

Variant	rs4737795
Chromosome Location	chr8:67343217-67343218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:67343163-67343320	MCF-7	breast:	n/a	n/a
2	CHD1	chr8:67340160-67343807	IMR90	lung:	n/a	chr8:67341038-67341048 chr8:67340834-67340844
3	POLR2A	chr8:67343022-67343289	HepG2	liver:	n/a	n/a
4	SREBP2	chr8:67340036-67343321	GM12878	blood:	n/a	n/a
5	MXI1	chr8:67340305-67343788	SK-N-SH	brain:	n/a	chr8:67341277-67341286

No.	Distal block	Cell Line	Cell type
1	chr8:67341571..67344891-chr8:67522913..67526545,3	MCF-7	breast:
2	chr8:67342992..67344694-chr8:67430908..67432583,2	MCF-7	breast:
3	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
4	chr8:67088502..67091443-chr8:67341463..67343865,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246145	TF binding region
ADHFE1	TF binding region
ENSG00000147571	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000253190	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10504396	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11987071	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11989945	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11992832	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11993412	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11993452	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11994448	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11995689	0.86[AMR][1000 genomes]
rs11997195	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11998019	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12541622	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12547412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549283	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12549484	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12550686	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16919046	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919047	0.88[AFR][1000 genomes]
rs16932815	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2098945	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28372872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3739338	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737228	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737229	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737233	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4737785	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4737787	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4737788	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737793	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737796	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737799	0.84[ASN][1000 genomes]
rs55681208	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55742362	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56176340	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57217048	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57462183	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57882940	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57925216	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57951167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59825535	0.86[AMR][1000 genomes]
rs61646267	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6472268	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6472278	0.82[ASN][1000 genomes]
rs66470447	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66713752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66716606	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66779163	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66967250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66996327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67015438	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67433773	0.82[ASN][1000 genomes]
rs67436695	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67443499	0.86[AMR][1000 genomes]
rs67472590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67556627	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67814353	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67928664	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6985120	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6989573	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6993146	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6994570	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998839	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7001576	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7009437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013081	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7014652	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7015791	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72652710	0.86[AMR][1000 genomes]
rs72652713	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72652714	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72652715	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72652728	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72652745	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72652748	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73247981	0.86[AMR][1000 genomes]
rs73247982	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73249829	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7824057	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7828145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7838277	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7838488	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67340000-67345200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:67340200-67343400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:67340200-67343400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:67340200-67343600	Active TSS	Hela-S3	cervix
5	chr8:67340200-67345000	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:67340200-67345200	Active TSS	NHLF	lung
7	chr8:67340200-67345400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:67340200-67345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr8:67340200-67345400	Active TSS	Fetal Intestine Large	intestine
10	chr8:67340200-67345400	Active TSS	Right Atrium	heart
11	chr8:67340200-67345600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:67340200-67345600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:67340400-67343400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:67340400-67343400	Active TSS	Fetal Intestine Small	intestine
15	chr8:67340400-67343600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:67340400-67345000	Active TSS	HepG2	liver
19	chr8:67340400-67345000	Active TSS	HSMMtube	muscle
20	chr8:67340400-67345200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:67340400-67345200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:67340400-67345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:67340400-67345400	Active TSS	Ovary	ovary
24	chr8:67340400-67345400	Active TSS	Psoas Muscle	Psoas
25	chr8:67340400-67345400	Active TSS	Right Ventricle	heart
26	chr8:67340400-67345600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:67340600-67343400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:67340600-67343400	Active TSS	NHDF-Ad	bronchial
29	chr8:67340600-67344200	Active TSS	K562	blood
30	chr8:67340600-67344800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:67340600-67345000	Active TSS	H1 Cell Line	embryonic stem cell
32	chr8:67340600-67345000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:67340600-67345000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr8:67340600-67345000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr8:67340600-67345000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:67340600-67345000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:67340600-67345000	Active TSS	Pancreas	Pancrea
38	chr8:67340600-67345000	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr8:67340600-67345200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:67340600-67345800	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:67340800-67343800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:67340800-67343800	Active TSS	NHEK	skin
43	chr8:67340800-67344800	Active TSS	HMEC	breast
44	chr8:67340800-67345000	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr8:67340800-67345000	Active TSS	NH-A	brain
46	chr8:67340800-67345200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr8:67340800-67345200	Active TSS	GM12878-XiMat	blood
48	chr8:67341000-67345200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:67341200-67343400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:67341200-67344600	Flanking Active TSS	Adipose Nuclei	Adipose

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