Variant report

Variant	rs73697527
Chromosome Location	chr8:95655206-95655207
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	CTCF	chr8:95654343-95655524	A549	lung:	n/a	chr8:95654690-95654703
2	SRF	chr8:95654472-95655308	MCF-7	breast:	n/a	chr8:95654922-95654931 chr8:95654917-95654935 chr8:95654918-95654932 chr8:95654920-95654933 chr8:95654918-95654935 chr8:95654722-95654732 chr8:95654917-95654931
3	JUND	chr8:95655092-95655335	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:95655000-95655215	MCF10A-Er-Src	breast:	n/a	n/a
5	SRF	chr8:95654188-95655340	MCF-7	breast:	n/a	chr8:95654922-95654931 chr8:95654917-95654935 chr8:95654918-95654932 chr8:95654920-95654933 chr8:95654918-95654935 chr8:95654453-95654463 chr8:95654722-95654732 chr8:95654917-95654931
6	EP300	chr8:95655094-95655363	Hela-S3	cervix:	n/a	chr8:95655206-95655220 chr8:95655211-95655219
7	CEBPB	chr8:95655049-95655411	Hela-S3	cervix:	n/a	chr8:95655207-95655224
8	TCF12	chr8:95654398-95655267	ECC-1	luminal epithelium:	n/a	n/a
9	SIN3AK20	chr8:95650805-95655762	MCF-7	breast:	n/a	n/a
10	CEBPB	chr8:95655058-95655359	K562	blood:	n/a	chr8:95655207-95655224
11	CEBPB	chr8:95655099-95655277	IMR90	lung:	n/a	chr8:95655207-95655224
12	GATA3	chr8:95654053-95655304	MCF-7	breast:	n/a	chr8:95654575-95654582
13	POLR2A	chr8:95650920-95655655	HCT-116	colon:	n/a	n/a
14	NR2F2	chr8:95650788-95655320	MCF-7	breast:	n/a	n/a
15	HDAC2	chr8:95650904-95655247	MCF-7	breast:	n/a	chr8:95652761-95652780 chr8:95653762-95653771
16	MAX	chr8:95653993-95655221	ECC-1	luminal epithelium:	n/a	chr8:95654385-95654394
17	ELF1	chr8:95652026-95655222	MCF-7	breast:	n/a	n/a
18	ELF1	chr8:95654367-95655245	MCF-7	breast:	n/a	n/a
19	CEBPB	chr8:95655111-95655298	H1-hESC	embryonic stem cell:	n/a	chr8:95655207-95655224
20	POLR2A	chr8:95650914-95655709	HCT-116	colon:	n/a	n/a
21	POLR2A	chr8:95651084-95655711	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr8:95655070-95655314	A549	lung:	n/a	chr8:95655207-95655224
23	MAX	chr8:95653852-95655213	ECC-1	luminal epithelium:	n/a	chr8:95654385-95654394
24	MAX	chr8:95650828-95655587	MCF-7	breast:	n/a	chr8:95654385-95654394 chr8:95653170-95653180 chr8:95653168-95653183 chr8:95653172-95653181 chr8:95652686-95652696 chr8:95655233-95655242 chr8:95653170-95653179
25	SIN3AK20	chr8:95650826-95655784	MCF-7	breast:	n/a	n/a
26	CEBPB	chr8:95654498-95655464	MCF-7	breast:	n/a	chr8:95655207-95655224

No.	Distal block	Cell Line	Cell type
1	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
2	chr8:95655009..95657075-chr8:95717339..95719274,2	MCF-7	breast:
3	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
4	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:
5	chr8:95604766..95607186-chr8:95653718..95656477,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261437	TF binding region
ESRP1	TF binding region
ENSG00000156162	Chromatin interaction
ENSG00000254283	Chromatin interaction
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs55862449	0.80[AFR][1000 genomes]
rs56039432	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56147836	0.80[AFR][1000 genomes]
rs56974354	1.00[AMR][1000 genomes]
rs57531232	0.84[AFR][1000 genomes]
rs57814850	0.80[AFR][1000 genomes]
rs58373749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58855099	0.84[AFR][1000 genomes]
rs59847618	0.84[AFR][1000 genomes]
rs60445949	0.80[AFR][1000 genomes]
rs73263294	0.87[AMR][1000 genomes]
rs73695503	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73695505	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73695506	0.87[AMR][1000 genomes]
rs73695507	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73695508	0.87[AMR][1000 genomes]
rs73695509	0.87[AMR][1000 genomes]
rs73695510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73695511	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73695513	0.90[AFR][1000 genomes]
rs73695514	0.86[AFR][1000 genomes]
rs73695515	0.84[AFR][1000 genomes]
rs73695517	0.84[AFR][1000 genomes]
rs73695518	0.84[AFR][1000 genomes]
rs73695520	0.84[AFR][1000 genomes]
rs73695521	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv429928	chr8:95488800-95672033	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv429929	chr8:95564533-95676894	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95650800-95655400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95650800-95655400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:95650800-95655400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr8:95650800-95655400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:95651000-95655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:95651200-95655400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:95651200-95655400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
8	chr8:95651200-95655400	Active TSS	Gastric	stomach
9	chr8:95651400-95655600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr8:95651600-95655400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:95651600-95655400	Active TSS	Pancreas	Pancrea
12	chr8:95652200-95655600	Bivalent/Poised TSS	Small Intestine	intestine
13	chr8:95652400-95655400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr8:95652600-95655600	Bivalent/Poised TSS	Stomach Mucosa	stomach
15	chr8:95653200-95655400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr8:95653600-95655600	Bivalent/Poised TSS	Fetal Kidney	kidney
17	chr8:95653600-95655600	Bivalent/Poised TSS	Fetal Lung	lung
18	chr8:95653800-95655600	Active TSS	Esophagus	oesophagus
19	chr8:95654200-95655600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
20	chr8:95654600-95655600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
21	chr8:95654600-95656800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:95654800-95655400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
23	chr8:95654800-95655600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
24	chr8:95654800-95656000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
25	chr8:95654800-95656400	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
26	chr8:95654800-95656400	Transcr. at gene 5' and 3'	NHEK	skin
27	chr8:95655000-95655400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:95655000-95655400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:95655000-95655400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
30	chr8:95655000-95655400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:95655000-95655400	Bivalent Enhancer	Brain Substantia Nigra	brain
32	chr8:95655000-95655400	Flanking Active TSS	Colonic Mucosa	Colon
33	chr8:95655000-95655400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:95655000-95655400	Bivalent/Poised TSS	Thymus	Thymus
35	chr8:95655000-95655600	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:95655000-95655600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr8:95655000-95655600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr8:95655000-95655600	Bivalent Enhancer	Colon Smooth Muscle	Colon
39	chr8:95655000-95655600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr8:95655000-95655600	Active TSS	Lung	lung
41	chr8:95655000-95656200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:95655000-95656600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
43	chr8:95655200-95655400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr8:95655200-95655400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:95655200-95655400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr8:95655200-95655400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
47	chr8:95655200-95655400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
48	chr8:95655200-95655400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
49	chr8:95655200-95655400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:95655200-95655400	Bivalent Enhancer	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links