Variant report

Variant	rs7386115
Chromosome Location	chr8:95655050-95655051
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	ZEB1	chr8:95654664-95655160	GM12878	blood:	n/a	chr8:95655000-95655012 chr8:95655001-95655012
4	ELF1	chr8:95654540-95655099	GM12878	blood:	n/a	n/a
5	SIN3A	chr8:95651241-95655158	H1-hESC	embryonic stem cell:	n/a	chr8:95652515-95652526 chr8:95654956-95654970 chr8:95652755-95652768 chr8:95651778-95651787
6	EGR1	chr8:95652000-95655184	MCF-7	breast:	n/a	chr8:95652687-95652697 chr8:95654431-95654441 chr8:95654431-95654441 chr8:95654429-95654443 chr8:95654432-95654441 chr8:95652683-95652693
7	POLR2A	chr8:95655000-95655215	MCF10A-Er-Src	breast:	n/a	n/a
8	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
9	POLR2A	chr8:95652375-95655085	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr8:95655049-95655411	Hela-S3	cervix:	n/a	chr8:95655207-95655224
11	TCF12	chr8:95654398-95655267	ECC-1	luminal epithelium:	n/a	n/a
12	SIN3AK20	chr8:95650805-95655762	MCF-7	breast:	n/a	n/a
13	HDAC2	chr8:95654196-95655187	MCF-7	breast:	n/a	n/a
14	GATA3	chr8:95654053-95655304	MCF-7	breast:	n/a	chr8:95654575-95654582
15	POLR2A	chr8:95650920-95655655	HCT-116	colon:	n/a	n/a
16	CTCF	chr8:95654433-95655074	H1-hESC	embryonic stem cell:	n/a	chr8:95654690-95654703
17	NR2F2	chr8:95650788-95655320	MCF-7	breast:	n/a	n/a
18	CTCF	chr8:95655040-95655190	GM12864	blood:	n/a	n/a
19	MYC	chr8:95654661-95655077	K562	blood:	n/a	n/a
20	PML	chr8:95652116-95655155	MCF-7	breast:	n/a	chr8:95653154-95653162 chr8:95652533-95652541
21	HDAC2	chr8:95650904-95655247	MCF-7	breast:	n/a	chr8:95652761-95652780 chr8:95653762-95653771
22	CTCF	chr8:95654244-95655167	HCT-116	colon:	n/a	chr8:95654690-95654703
23	MAX	chr8:95653993-95655221	ECC-1	luminal epithelium:	n/a	chr8:95654385-95654394
24	TAF1	chr8:95652280-95655163	MCF-7	breast:	n/a	n/a
25	RAD21	chr8:95654522-95655064	MCF-7	breast:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
26	MYC	chr8:95654989-95655112	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr8:95654399-95655187	HCT-116	colon:	n/a	chr8:95654690-95654703
28	ELF1	chr8:95652026-95655222	MCF-7	breast:	n/a	n/a
29	TCF12	chr8:95652312-95655190	ECC-1	luminal epithelium:	n/a	chr8:95653371-95653378 chr8:95653151-95653158
30	ELF1	chr8:95654367-95655245	MCF-7	breast:	n/a	n/a
31	GATA3	chr8:95654549-95655147	MCF-7	breast:	n/a	chr8:95654575-95654582
32	POLR2A	chr8:95650914-95655709	HCT-116	colon:	n/a	n/a
33	SRF	chr8:95654490-95655127	ECC-1	luminal epithelium:	n/a	chr8:95654922-95654931 chr8:95654917-95654935 chr8:95654918-95654932 chr8:95654920-95654933 chr8:95654918-95654935 chr8:95654722-95654732 chr8:95654917-95654931
34	SRF	chr8:95654399-95655196	ECC-1	luminal epithelium:	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
35	POLR2A	chr8:95651084-95655711	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr8:95654063-95655091	MCF-7	breast:	n/a	chr8:95654690-95654703 chr8:95654102-95654111
37	SIN3AK20	chr8:95652338-95655091	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr8:95654438-95655125	MCF-7	breast:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
39	ELF1	chr8:95654749-95655059	K562	blood:	n/a	n/a
40	MAX	chr8:95653852-95655213	ECC-1	luminal epithelium:	n/a	chr8:95654385-95654394
41	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
42	SIN3AK20	chr8:95650826-95655784	MCF-7	breast:	n/a	n/a
43	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	chr8:95624896..95625420-chr8:95654585..95655148,2	MCF-7	breast:
3	chr8:95604280..95605218-chr8:95654234..95655141,4	MCF-7	breast:
4	chr8:95563755..95566398-chr8:95651251..95655119,6	MCF-7	breast:
5	chr8:95655009..95657075-chr8:95717339..95719274,2	MCF-7	breast:
6	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
7	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:
8	chr8:95604766..95607186-chr8:95653718..95656477,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261437	TF binding region
ESRP1	TF binding region
ENSG00000104413	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000254283	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10956922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10956923	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs34284609	1.00[CHB][hapmap]
rs4735321	1.00[CHB][hapmap]
rs6471454	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7002041	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7006343	0.87[ASN][1000 genomes]
rs7009742	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7387427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7840357	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7842319	0.83[CHD][hapmap];0.81[ASN][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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95650800-95655200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:95650800-95655200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:95650800-95655200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr8:95650800-95655400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr8:95650800-95655400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr8:95650800-95655400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:95650800-95655400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:95651000-95655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:95651200-95655200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:95651200-95655400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:95651200-95655400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr8:95651200-95655400	Active TSS	Gastric	stomach
15	chr8:95651400-95655600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr8:95651600-95655200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:95651600-95655400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:95651600-95655400	Active TSS	Pancreas	Pancrea
19	chr8:95652200-95655200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
20	chr8:95652200-95655600	Bivalent/Poised TSS	Small Intestine	intestine
21	chr8:95652400-95655200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:95652400-95655400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr8:95652600-95655200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:95652600-95655600	Bivalent/Poised TSS	Stomach Mucosa	stomach
25	chr8:95652800-95655200	Bivalent Enhancer	Fetal Heart	heart
26	chr8:95653200-95655400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr8:95653600-95655200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:95653600-95655200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr8:95653600-95655600	Bivalent/Poised TSS	Fetal Kidney	kidney
30	chr8:95653600-95655600	Bivalent/Poised TSS	Fetal Lung	lung
31	chr8:95653800-95655200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:95653800-95655600	Active TSS	Esophagus	oesophagus
33	chr8:95654000-95655200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr8:95654200-95655200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr8:95654200-95655200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
36	chr8:95654200-95655600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
37	chr8:95654400-95655200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:95654400-95655200	Flanking Bivalent TSS/Enh	Placenta	Placenta
39	chr8:95654600-95655200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:95654600-95655600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
41	chr8:95654600-95656800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:95654800-95655200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
43	chr8:95654800-95655200	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr8:95654800-95655200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr8:95654800-95655200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
46	chr8:95654800-95655200	Active TSS	Right Atrium	heart
47	chr8:95654800-95655200	Active TSS	HMEC	breast
48	chr8:95654800-95655400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
49	chr8:95654800-95655600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
50	chr8:95654800-95656000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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