Variant report

Variant	rs62531942
Chromosome Location	chr8:119634435-119634436
allele	G/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	ETS1	chr8:119634031-119634609	GM12878	blood:	n/a	chr8:119634237-119634250 chr8:119634447-119634460 chr8:119634238-119634251
2	POLR2A	chr8:119633348-119634745	GM18951	blood:	n/a	n/a
3	SIX5	chr8:119634061-119634666	H1-hESC	embryonic stem cell:	n/a	chr8:119634451-119634460 chr8:119634240-119634249 chr8:119634449-119634458 chr8:119634237-119634251 chr8:119634238-119634247
4	ZNF143	chr8:119633978-119635125	Hela-S3	cervix:	n/a	chr8:119634451-119634460 chr8:119634449-119634458 chr8:119634449-119634467 chr8:119634231-119634249 chr8:119634453-119634472 chr8:119634238-119634247 chr8:119634240-119634249
5	CHD2	chr8:119634212-119634471	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:119632798-119634952	GM12878	blood:	n/a	n/a
7	ZNF143	chr8:119634034-119634669	K562	blood:	n/a	chr8:119634451-119634460 chr8:119634449-119634458 chr8:119634449-119634467 chr8:119634231-119634249 chr8:119634453-119634472 chr8:119634238-119634247 chr8:119634240-119634249
8	MAX	chr8:119632804-119634970	MCF-7	breast:	n/a	chr8:119633696-119633706 chr8:119634122-119634132
9	MYC	chr8:119634426-119634664	MCF-7	breast:	n/a	n/a
10	ELF1	chr8:119632789-119634771	MCF-7	breast:	n/a	chr8:119633545-119633557 chr8:119634209-119634221 chr8:119633314-119633325 chr8:119633548-119633560
11	SIN3A	chr8:119633376-119634896	H1-hESC	embryonic stem cell:	n/a	n/a
12	RUNX3	chr8:119634418-119634926	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:119632895-119634737	GM18526	blood:	n/a	n/a
14	MAX	chr8:119634040-119635000	Hela-S3	cervix:	n/a	chr8:119634122-119634132
15	RCOR1	chr8:119634142-119634606	GM12878	blood:	n/a	n/a
16	POLR2A	chr8:119633895-119635137	Raji	blood:	n/a	n/a
17	POLR2A	chr8:119633765-119634747	Hela-S3	cervix:	n/a	n/a
18	RUNX3	chr8:119634388-119634873	GM12878	blood:	n/a	n/a
19	SIX5	chr8:119634114-119634500	K562	blood:	n/a	chr8:119634451-119634460 chr8:119634240-119634249 chr8:119634449-119634458 chr8:119634237-119634251 chr8:119634238-119634247
20	POLR2A	chr8:119634420-119634707	ECC-1	luminal epithelium:	n/a	n/a
21	STAT1	chr8:119633796-119634686	GM12878	blood:	n/a	chr8:119634103-119634115
22	MAZ	chr8:119633271-119634680	GM12878	blood:	n/a	chr8:119633696-119633706 chr8:119634122-119634132
23	HCFC1	chr8:119633557-119635458	Hela-S3	cervix:	n/a	n/a
24	SMC3	chr8:119633846-119634973	Hela-S3	cervix:	n/a	chr8:119634638-119634648
25	PML	chr8:119634416-119634899	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:119633498-119634780	MCF-7	breast:	n/a	n/a
27	MAZ	chr8:119634025-119634992	Hela-S3	cervix:	n/a	chr8:119634122-119634132
28	SIX5	chr8:119634012-119634618	GM12878	blood:	n/a	chr8:119634451-119634460 chr8:119634240-119634249 chr8:119634449-119634458 chr8:119634237-119634251 chr8:119634238-119634247
29	ZNF143	chr8:119633700-119634921	H1-hESC	embryonic stem cell:	n/a	chr8:119634451-119634460 chr8:119634449-119634458 chr8:119634449-119634467 chr8:119634231-119634249 chr8:119633885-119633895 chr8:119634453-119634472 chr8:119634238-119634247 chr8:119634240-119634249
30	ZNF143	chr8:119632863-119634989	GM12878	blood:	n/a	chr8:119634451-119634460 chr8:119634449-119634458 chr8:119634449-119634467 chr8:119634231-119634249 chr8:119633885-119633895 chr8:119634453-119634472 chr8:119634238-119634247 chr8:119633485-119633495 chr8:119634240-119634249
31	POLR2A	chr8:119634387-119634691	HCT-116	colon:	n/a	n/a
32	POLR2A	chr8:119634393-119634771	ECC-1	luminal epithelium:	n/a	n/a
33	TCF12	chr8:119634396-119634693	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIX5	chr8:119633988-119634623	GM12878	blood:	n/a	chr8:119634451-119634460 chr8:119634240-119634249 chr8:119634449-119634458 chr8:119634237-119634251 chr8:119634238-119634247
35	ZEB1	chr8:119634427-119634940	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:119634396-119634735	GM12878	blood:	n/a	n/a
37	RFX5	chr8:119633981-119634718	Hela-S3	cervix:	n/a	n/a
38	HCFC1	chr8:119634031-119634668	K562	blood:	n/a	n/a
39	POLR2A	chr8:119634410-119634787	GM12878	blood:	n/a	n/a
40	YY1	chr8:119633942-119634447	GM12878	blood:	n/a	n/a
41	CREB1	chr8:119634386-119634741	A549	lung:	n/a	n/a
42	SIX5	chr8:119634037-119634678	A549	lung:	n/a	chr8:119634451-119634460 chr8:119634240-119634249 chr8:119634449-119634458 chr8:119634237-119634251 chr8:119634238-119634247
43	POLR2A	chr8:119633947-119634760	MCF-7	breast:	n/a	n/a
44	ZNF263	chr8:119633656-119634830	HEK293-T-REx	kidney:	n/a	chr8:119633938-119633959 chr8:119633904-119633925
45	MAX	chr8:119634422-119634879	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr8:119634424-119634728	HCT-116	colon:	n/a	n/a
47	CHD2	chr8:119632938-119634983	GM12878	blood:	n/a	chr8:119634634-119634644
48	CHD2	chr8:119633834-119634978	Hela-S3	cervix:	n/a	chr8:119634634-119634644
49	RCOR1	chr8:119633839-119634654	Hela-S3	cervix:	n/a	n/a
50	MXI1	chr8:119632776-119634637	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SAMD12	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2514601	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891413	chr8:119607281-119679668	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv1814789	chr8:119627671-119672134	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv465786	chr8:119627671-119767165	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv612048	chr8:119627671-119767165	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119632600-119635200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:119632800-119635000	Active TSS	Colonic Mucosa	Colon
3	chr8:119632800-119635000	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:119633000-119634600	Active TSS	Esophagus	oesophagus
5	chr8:119633000-119634600	Active TSS	Right Atrium	heart
6	chr8:119633000-119634800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:119633000-119634800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr8:119633000-119634800	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr8:119633000-119634800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr8:119633000-119634800	Active TSS	Brain Germinal Matrix	brain
11	chr8:119633000-119634800	Active TSS	Fetal Intestine Large	intestine
12	chr8:119633000-119634800	Active TSS	Gastric	stomach
13	chr8:119633000-119635000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:119633000-119635000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:119633000-119635200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:119633200-119634600	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr8:119633200-119634600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr8:119633200-119634600	Active TSS	Brain Substantia Nigra	brain
19	chr8:119633200-119634600	Active TSS	Colon Smooth Muscle	Colon
20	chr8:119633200-119634600	Active TSS	Fetal Intestine Small	intestine
21	chr8:119633200-119634600	Active TSS	Lung	lung
22	chr8:119633200-119634600	Active TSS	Pancreas	Pancrea
23	chr8:119633200-119634600	Active TSS	Small Intestine	intestine
24	chr8:119633200-119634600	Active TSS	Stomach Mucosa	stomach
25	chr8:119633200-119634600	Active TSS	Thymus	Thymus
26	chr8:119633200-119634600	Active TSS	GM12878-XiMat	blood
27	chr8:119633200-119634800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:119633200-119634800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr8:119633200-119635000	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr8:119633200-119635200	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr8:119633400-119634600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:119633400-119634600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:119633400-119634600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:119633400-119634600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:119633400-119634600	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr8:119633400-119634600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:119633400-119634600	Active TSS	Brain Anterior Caudate	brain
38	chr8:119633400-119634600	Active TSS	HSMM	muscle
39	chr8:119633400-119634600	Active TSS	NH-A	brain
40	chr8:119633400-119634600	Active TSS	NHLF	lung
41	chr8:119633400-119634800	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr8:119633400-119634800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
43	chr8:119633400-119634800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:119633400-119634800	Active TSS	Aorta	Aorta
45	chr8:119633400-119634800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr8:119633400-119635000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:119633400-119635000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
48	chr8:119633400-119635000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:119633400-119635000	Active TSS	Psoas Muscle	Psoas
50	chr8:119633400-119635200	Active TSS	Fetal Kidney	kidney

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