Variant report

Variant	rs16916938
Chromosome Location	chr8:95654532-95654533
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	MXI1	chr8:95654486-95654946	H1-hESC	embryonic stem cell:	n/a	n/a
3	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
4	CTCF	chr8:95654489-95654860	A549	lung:	n/a	chr8:95654690-95654703
5	YY1	chr8:95654333-95654847	H1-hESC	embryonic stem cell:	n/a	chr8:95654422-95654433 chr8:95654578-95654590
6	SP4	chr8:95654496-95654974	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr8:95654348-95654786	H1-hESC	embryonic stem cell:	n/a	chr8:95654422-95654433 chr8:95654578-95654590
8	SIN3A	chr8:95651241-95655158	H1-hESC	embryonic stem cell:	n/a	chr8:95652515-95652526 chr8:95654956-95654970 chr8:95652755-95652768 chr8:95651778-95651787
9	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
10	PBX3	chr8:95654494-95654648	GM12878	blood:	n/a	n/a
11	BACH1	chr8:95654192-95654811	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr8:95654474-95654826	HCT-116	colon:	n/a	chr8:95654578-95654590
13	RAD21	chr8:95654444-95654953	ECC-1	luminal epithelium:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
14	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
15	CTCF	chr8:95654460-95654610	NHDF-neo	bronchial:	n/a	n/a
16	POLR2A	chr8:95652375-95655085	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF12	chr8:95654398-95655267	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr8:95654493-95654886	GM12878	blood:	n/a	chr8:95654690-95654703
19	TAF1	chr8:95654238-95654934	ECC-1	luminal epithelium:	n/a	n/a
20	SIN3AK20	chr8:95650805-95655762	MCF-7	breast:	n/a	n/a
21	HDAC2	chr8:95654196-95655187	MCF-7	breast:	n/a	n/a
22	ZNF143	chr8:95654531-95654867	GM12878	blood:	n/a	n/a
23	CREB1	chr8:95654524-95654809	A549	lung:	n/a	n/a
24	GATA3	chr8:95654053-95655304	MCF-7	breast:	n/a	chr8:95654575-95654582
25	RAD21	chr8:95654502-95654835	H1-hESC	embryonic stem cell:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
26	POLR2A	chr8:95653833-95655022	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:95654516-95654976	MCF-7	breast:	n/a	chr8:95654690-95654703
28	POLR2A	chr8:95654403-95654997	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr8:95650920-95655655	HCT-116	colon:	n/a	n/a
30	CTCF	chr8:95654465-95654927	K562	blood:	n/a	chr8:95654690-95654703
31	TCF7L2	chr8:95653784-95654878	HCT-116	colon:	n/a	n/a
32	CTCF	chr8:95654433-95655074	H1-hESC	embryonic stem cell:	n/a	chr8:95654690-95654703
33	NR2F2	chr8:95650788-95655320	MCF-7	breast:	n/a	n/a
34	RAD21	chr8:95654522-95654963	A549	lung:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
35	RAD21	chr8:95654531-95654865	HepG2	liver:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
36	TBP	chr8:95654481-95654950	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr8:95654501-95654842	GM12878	blood:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
38	PML	chr8:95652116-95655155	MCF-7	breast:	n/a	chr8:95653154-95653162 chr8:95652533-95652541
39	HDAC2	chr8:95650904-95655247	MCF-7	breast:	n/a	chr8:95652761-95652780 chr8:95653762-95653771
40	RAD21	chr8:95654528-95654872	H1-hESC	embryonic stem cell:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
41	CTCF	chr8:95654460-95654610	A549	lung:	n/a	n/a
42	USF1	chr8:95654129-95654868	ECC-1	luminal epithelium:	n/a	n/a
43	CTCF	chr8:95654244-95655167	HCT-116	colon:	n/a	chr8:95654690-95654703
44	MAX	chr8:95653993-95655221	ECC-1	luminal epithelium:	n/a	chr8:95654385-95654394
45	MYC	chr8:95654264-95654904	MCF-7	breast:	n/a	chr8:95654385-95654394
46	ZBTB7A	chr8:95652277-95655024	ECC-1	luminal epithelium:	n/a	chr8:95654475-95654486 chr8:95654695-95654704 chr8:95654622-95654631 chr8:95653188-95653195
47	TAF1	chr8:95652280-95655163	MCF-7	breast:	n/a	n/a
48	RAD21	chr8:95654522-95655064	MCF-7	breast:	n/a	chr8:95654693-95654705 chr8:95654693-95654703
49	CTBP2	chr8:95653913-95655038	H1-hESC	embryonic stem cell:	n/a	n/a
50	FOXA1	chr8:95654528-95654859	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95650400..95656999-chr8:95729644..95735467,19	MCF-7	breast:
2	chr8:95603957..95608238-chr8:95651708..95655027,4	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	chr8:95579815..95580405-chr8:95654233..95654954,2	MCF-7	breast:
6	chr8:95635473..95635982-chr8:95654256..95654977,2	MCF-7	breast:
7	chr8:95650894..95656484-chr8:95728446..95733482,20	MCF-7	breast:
8	chr8:95635723..95636308-chr8:95654243..95654796,2	MCF-7	breast:
9	chr8:95649858..95656937-chr8:95675336..95684799,15	MCF-7	breast:
10	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
ENSG00000254283	Chromatin interaction
ENSG00000164944	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000253704	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11985390	1.00[EUR][1000 genomes]
rs11989790	1.00[EUR][1000 genomes]
rs11990996	1.00[EUR][1000 genomes]
rs56078107	1.00[EUR][1000 genomes]
rs56388085	1.00[EUR][1000 genomes]
rs56770571	1.00[EUR][1000 genomes]
rs57754517	1.00[EUR][1000 genomes]
rs58369514	1.00[EUR][1000 genomes]
rs60341081	1.00[EUR][1000 genomes]
rs60712208	1.00[EUR][1000 genomes]
rs7012479	1.00[EUR][1000 genomes]
rs7012627	1.00[EUR][1000 genomes]
rs73697013	1.00[EUR][1000 genomes]
rs73697018	1.00[EUR][1000 genomes]
rs73697033	1.00[EUR][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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95650600-95654800	Active TSS	Rectal Mucosa Donor 31	rectum
2	chr8:95650800-95654800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:95650800-95655200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:95650800-95655200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:95650800-95655200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr8:95650800-95655400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:95650800-95655400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:95650800-95655400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:95650800-95655400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:95651000-95655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:95651200-95654800	Active TSS	Placenta Amnion	Placenta Amnion
14	chr8:95651200-95655200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:95651200-95655400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:95651200-95655400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
17	chr8:95651200-95655400	Active TSS	Gastric	stomach
18	chr8:95651400-95655600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr8:95651600-95655000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:95651600-95655200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:95651600-95655400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:95651600-95655400	Active TSS	Pancreas	Pancrea
23	chr8:95651800-95654600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
24	chr8:95652000-95655000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr8:95652200-95654800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr8:95652200-95655000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
27	chr8:95652200-95655000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:95652200-95655200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
29	chr8:95652200-95655600	Bivalent/Poised TSS	Small Intestine	intestine
30	chr8:95652400-95655000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:95652400-95655000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:95652400-95655200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:95652400-95655400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr8:95652600-95654800	Active TSS	NHEK	skin
35	chr8:95652600-95655000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:95652600-95655000	Flanking Bivalent TSS/Enh	Thymus	Thymus
37	chr8:95652600-95655200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:95652600-95655600	Bivalent/Poised TSS	Stomach Mucosa	stomach
39	chr8:95652800-95654800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
40	chr8:95652800-95655200	Bivalent Enhancer	Fetal Heart	heart
41	chr8:95653000-95654600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:95653000-95654600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr8:95653000-95654600	Bivalent Enhancer	Left Ventricle	heart
44	chr8:95653200-95655000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
45	chr8:95653200-95655000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr8:95653200-95655000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr8:95653200-95655400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
48	chr8:95653400-95654600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:95653400-95654800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
50	chr8:95653600-95654600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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