Variant report

Variant	rs62523409
Chromosome Location	chr8:95654043-95654044
allele	C/T
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	SIN3A	chr8:95651241-95655158	H1-hESC	embryonic stem cell:	n/a	chr8:95652515-95652526 chr8:95654956-95654970 chr8:95652755-95652768 chr8:95651778-95651787
2	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
3	POLR2A	chr8:95652375-95655085	H1-hESC	embryonic stem cell:	n/a	n/a
4	NR2F2	chr8:95652361-95654275	MCF-7	breast:	n/a	n/a
5	TBP	chr8:95652295-95654271	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:95653920-95654070	SAEC	small airway:	n/a	n/a
7	SIN3AK20	chr8:95650805-95655762	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:95654038-95654074	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:95653833-95655022	MCF-7	breast:	n/a	n/a
10	POLR2A	chr8:95650920-95655655	HCT-116	colon:	n/a	n/a
11	TCF7L2	chr8:95653784-95654878	HCT-116	colon:	n/a	n/a
12	NR2F2	chr8:95650788-95655320	MCF-7	breast:	n/a	n/a
13	PML	chr8:95652116-95655155	MCF-7	breast:	n/a	chr8:95653154-95653162 chr8:95652533-95652541
14	HDAC2	chr8:95650904-95655247	MCF-7	breast:	n/a	chr8:95652761-95652780 chr8:95653762-95653771
15	TAF1	chr8:95651980-95654289	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr8:95653993-95655221	ECC-1	luminal epithelium:	n/a	chr8:95654385-95654394
17	ZBTB7A	chr8:95652277-95655024	ECC-1	luminal epithelium:	n/a	chr8:95654475-95654486 chr8:95654695-95654704 chr8:95654622-95654631 chr8:95653188-95653195
18	TAF1	chr8:95652280-95655163	MCF-7	breast:	n/a	n/a
19	CTBP2	chr8:95653913-95655038	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELF1	chr8:95652026-95655222	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:95653615-95654343	ECC-1	luminal epithelium:	n/a	n/a
22	TCF12	chr8:95652312-95655190	ECC-1	luminal epithelium:	n/a	chr8:95653371-95653378 chr8:95653151-95653158
23	JUND	chr8:95651084-95654095	MCF-7	breast:	n/a	chr8:95654020-95654029 chr8:95653263-95653277
24	POLR2A	chr8:95650914-95655709	HCT-116	colon:	n/a	n/a
25	ZBTB7A	chr8:95653754-95654954	ECC-1	luminal epithelium:	n/a	chr8:95654475-95654486 chr8:95654695-95654704 chr8:95654622-95654631
26	TAF1	chr8:95651019-95654052	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr8:95652346-95654263	MCF-7	breast:	n/a	n/a
28	POLR2A	chr8:95654027-95654362	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr8:95651084-95655711	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3AK20	chr8:95652338-95655091	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr8:95651024-95655016	MCF-7	breast:	n/a	n/a
32	MAX	chr8:95653852-95655213	ECC-1	luminal epithelium:	n/a	chr8:95654385-95654394
33	CTCF	chr8:95653940-95654090	SAEC	small airway:	n/a	n/a
34	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
35	SIN3AK20	chr8:95650826-95655784	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:95654019-95654069	AG04450	lung:	fetal
2	chr8:95654019-95654069	HCM	heart:	n/a
3	chr8:95654019-95654069	AG10803	skin:	n/a
4	chr8:95654019-95654069	T-47D	breast:	n/a
5	chr8:95654019-95654069	BJ	skin:	n/a
6	chr8:95654019-95654069	HEEpiC	esophagus:	n/a
7	chr8:95654019-95654069	SK-N-SH	brain:	n/a
8	chr8:95654019-95654069	U87	brain:	n/a
9	chr8:95654019-95654069	PFSK-1	brain:	n/a
10	chr8:95654019-95654069	GM12878	blood:	n/a
11	chr8:95654019-95654069	HNPCEpiC	eye:	n/a
12	chr8:95654019-95654069	HCF	heart:	n/a
13	chr8:95654019-95654069	SK-N-SH_RA	brain:	n/a
14	chr8:95654019-95654069	GM12892	blood:	n/a
15	chr8:95654019-95654069	NB4	blood:	n/a
16	chr8:95654019-95654069	NHDF-neo	bronchial:	n/a
17	chr8:95654019-95654069	HL-60	blood:	n/a
18	chr8:95654019-95654069	SAEC	small airway:	n/a
19	chr8:95654019-95654069	HAEpiC	amniotic membrane:	n/a
20	chr8:95654019-95654069	MCF-7	breast:	n/a
21	chr8:95654019-95654069	HCPEpiC	choroid plexus:	n/a
22	chr8:95654019-95654069	MCF10A-Er-Src	breast:	n/a
23	chr8:95654019-95654069	NT2-D1	testis:	n/a
24	chr8:95654019-95654069	HRPEpiC	eye:	n/a
25	chr8:95654019-95654069	AG04449	skin:	fetal
26	chr8:95654019-95654069	H1-hESC	embryonic stem cell:	embryo
27	chr8:95654019-95654069	HCT-116	colon:	n/a
28	chr8:95654019-95654069	AG09309	skin:	n/a
29	chr8:95654019-95654069	SKMC	muscle:	n/a
30	chr8:95654019-95654069	PrEC	prostate:	n/a
31	chr8:95654019-95654069	HEK293	kidney:	embryo
32	chr8:95654019-95654069	K562	blood:	n/a
33	chr8:95654019-95654069	NHBE	bronchial:	n/a
34	chr8:95654019-95654069	HRE	kidney:	n/a
35	chr8:95654019-95654069	GM12891	blood:	n/a
36	chr8:95654019-95654069	CMK	blood:	n/a
37	chr8:95654019-95654069	PANC-1	pancreas:	n/a
38	chr8:95654019-95654069	Hepatocyte	liver:	n/a
39	chr8:95654019-95654069	A549	lung:	n/a
40	chr8:95654019-95654069	ECC-1	luminal epithelium:	n/a
41	chr8:95654019-95654069	HepG2	liver:	n/a
42	chr8:95654019-95654069	Hela-S3	cervix:	n/a
43	chr8:95654019-95654069	Caco-2	colon:	n/a
44	chr8:95654019-95654069	HIPEpiC	eye:	n/a
45	chr8:95654019-95654069	AG09319	gingival:	n/a
46	chr8:95654019-95654069	SK-N-MC	brain:	n/a
47	chr8:95654019-95654069	AoSMC	blood vessel:	n/a
48	chr8:95654019-95654069	ProgFib	skin:	n/a
49	chr8:95654019-95654069	NH-A	brain:	n/a
50	chr8:95654019-95654069	ovcar-3	ovarian:	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	chr8:95651198..95654140-chr8:95736367..95739273,3	MCF-7	breast:
4	chr8:95563755..95566398-chr8:95651251..95655119,6	MCF-7	breast:
5	chr8:95652142..95654466-chr8:95834020..95837000,3	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	chr8:95651278..95654428-chr8:95723706..95727705,5	MCF-7	breast:
9	chr8:95604766..95607186-chr8:95653718..95656477,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261437	TF binding region
ESRP1	TF binding region
ENSG00000261437	CpG island
ESRP1	CpG island
ENSG00000164944	Chromatin interaction
ENSG00000199701	Chromatin interaction
ENSG00000254283	Chromatin interaction
ENSG00000253704	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1365202	0.90[ASN][1000 genomes]
rs2303451	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2303452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35383278	0.89[ASN][1000 genomes]
rs3808382	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7004872	0.89[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:110 , 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	chr8:95650800-95654200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:95650800-95654800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr8:95650800-95655200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:95650800-95655200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr8:95650800-95655200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:95650800-95655400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:95650800-95655400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr8:95650800-95655400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:95650800-95655400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:95651000-95655200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:95651000-95655600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:95651200-95654800	Active TSS	Placenta Amnion	Placenta Amnion
15	chr8:95651200-95655200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:95651200-95655400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:95651200-95655400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr8:95651200-95655400	Active TSS	Gastric	stomach
19	chr8:95651400-95655600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
20	chr8:95651600-95655000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:95651600-95655200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:95651600-95655400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:95651600-95655400	Active TSS	Pancreas	Pancrea
24	chr8:95651800-95654600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
25	chr8:95652000-95655000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr8:95652200-95654200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:95652200-95654400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
28	chr8:95652200-95654800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:95652200-95655000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
30	chr8:95652200-95655000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:95652200-95655200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
32	chr8:95652200-95655600	Bivalent/Poised TSS	Small Intestine	intestine
33	chr8:95652400-95655000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:95652400-95655000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:95652400-95655200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:95652400-95655400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr8:95652600-95654400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr8:95652600-95654400	Active TSS	HMEC	breast
39	chr8:95652600-95654800	Active TSS	NHEK	skin
40	chr8:95652600-95655000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:95652600-95655000	Flanking Bivalent TSS/Enh	Thymus	Thymus
42	chr8:95652600-95655200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:95652600-95655600	Bivalent/Poised TSS	Stomach Mucosa	stomach
44	chr8:95652800-95654200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:95652800-95654400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
46	chr8:95652800-95654800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
47	chr8:95652800-95655200	Bivalent Enhancer	Fetal Heart	heart
48	chr8:95653000-95654200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr8:95653000-95654200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
50	chr8:95653000-95654600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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