Variant report

Variant	rs985794
Chromosome Location	chr8:99955574-99955575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:99954465-99959161	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr8:99954510-99959523	H1-neurons	neurons:	n/a	n/a
3	SUZ12	chr8:99951190-99955729	NT2-D1	testis:	n/a	n/a
4	TCF12	chr8:99955480-99955810	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr8:99955499-99955662	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr8:99955225-99956779	H1-hESC	embryonic stem cell:	n/a	chr8:99956625-99956637 chr8:99956625-99956637 chr8:99956627-99956636 chr8:99956568-99956580 chr8:99956626-99956635

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:99955563-99955613	NT2-D1	testis:	n/a
2	chr8:99955563-99955613	GM12891	blood:	n/a
3	chr8:99955563-99955613	HepG2	liver:	n/a
4	chr8:99955563-99955613	ovcar-3	ovarian:	n/a
5	chr8:99955563-99955613	ECC-1	luminal epithelium:	n/a
6	chr8:99955563-99955613	SK-N-SH_RA	brain:	n/a
7	chr8:99955563-99955613	AoSMC	blood vessel:	n/a
8	chr8:99955563-99955613	PrEC	prostate:	n/a
9	chr8:99955563-99955613	AG10803	skin:	n/a
10	chr8:99955563-99955613	NB4	blood:	n/a
11	chr8:99955563-99955613	T-47D	breast:	n/a
12	chr8:99955563-99955613	NHDF-neo	bronchial:	n/a
13	chr8:99955563-99955613	HRPEpiC	eye:	n/a
14	chr8:99955563-99955613	SAEC	small airway:	n/a
15	chr8:99955563-99955613	NH-A	brain:	n/a
16	chr8:99955563-99955613	IMR90	lung:	fetal
17	chr8:99955563-99955613	HEEpiC	esophagus:	n/a
18	chr8:99955563-99955613	LNCaP	prostate:	n/a
19	chr8:99955563-99955613	AG09319	gingival:	n/a
20	chr8:99955563-99955613	GM12892	blood:	n/a
21	chr8:99955563-99955613	HPAEpiC	pulmonary alveolar:	n/a
22	chr8:99955563-99955613	HIPEpiC	eye:	n/a
23	chr8:99955563-99955613	Hepatocyte	liver:	n/a
24	chr8:99955563-99955613	SK-N-MC	brain:	n/a
25	chr8:99955563-99955613	MCF-7	breast:	n/a
26	chr8:99955563-99955613	K562	blood:	n/a
27	chr8:99955563-99955613	HRCEpiC	kidney:	n/a
28	chr8:99955563-99955613	PFSK-1	brain:	n/a
29	chr8:99955563-99955613	U87	brain:	n/a
30	chr8:99955563-99955613	HEK293	kidney:	embryo
31	chr8:99955563-99955613	HNPCEpiC	eye:	n/a
32	chr8:99955563-99955613	HCF	heart:	n/a
33	chr8:99955563-99955613	BJ	skin:	n/a
34	chr8:99955563-99955613	AG04450	lung:	fetal
35	chr8:99955563-99955613	HCPEpiC	choroid plexus:	n/a
36	chr8:99955563-99955613	HMEC	breast:	n/a
37	chr8:99955563-99955613	Jurkat	blood:	n/a
38	chr8:99955563-99955613	GM12878	blood:	n/a
39	chr8:99955563-99955613	HL-60	blood:	n/a
40	chr8:99955563-99955613	SKMC	muscle:	n/a
41	chr8:99955563-99955613	A549	lung:	n/a
42	chr8:99955563-99955613	AG04449	skin:	fetal
43	chr8:99955563-99955613	AG09309	skin:	n/a
44	chr8:99955563-99955613	CMK	blood:	n/a
45	chr8:99955563-99955613	HCT-116	colon:	n/a
46	chr8:99955563-99955613	Caco-2	colon:	n/a
47	chr8:99955563-99955613	GM06990	blood:	n/a
48	chr8:99955563-99955613	GM19239	blood:	n/a
49	chr8:99955563-99955613	HCM	heart:	n/a
50	chr8:99955563-99955613	NHBE	bronchial:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99954936..99956657-chr8:100904324..100906629,2	MCF-7	breast:
2	chr8:99955273..99957309-chr8:100023910..100025896,2	K562	blood:
3	chr8:99952140..99962153-chr8:100006475..100015090,25	MCF-7	breast:
4	chr8:99953586..99962238-chr8:100023509..100028680,26	MCF-7	breast:
5	chr8:99836481..99839453-chr8:99955374..99958557,4	MCF-7	breast:
6	chr8:99836684..99839127-chr8:99955180..99958109,2	K562	blood:
7	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271930	TF binding region
STK3	TF binding region
OSR2	TF binding region
OSR2	CpG island
STK3	CpG island
ENSG00000271930	CpG island
ENSG00000253948	Chromatin interaction
ENSG00000263842	Chromatin interaction
ENSG00000164919	Chromatin interaction
ENSG00000132549	Chromatin interaction
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2310805	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2515218	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes]
rs2515223	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2922083	1.00[AFR][1000 genomes]
rs3019294	1.00[ASW][hapmap];1.00[TSI][hapmap]
rs4307309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv6327	chr8:99919634-99964563	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99950400-99955600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:99951000-99955800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:99951600-99961600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:99952200-99961400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:99952400-99960800	Active TSS	Ovary	ovary
6	chr8:99952800-99955600	Active TSS	Hela-S3	cervix
7	chr8:99953400-99959800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:99953600-99956200	Flanking Active TSS	GM12878-XiMat	blood
9	chr8:99954000-99956400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
10	chr8:99954000-99956600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
11	chr8:99954200-99955600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:99954200-99955800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr8:99954200-99956400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:99954200-99956600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr8:99954200-99956600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr8:99954200-99960200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
17	chr8:99954400-99955800	Weak transcription	HSMMtube	muscle
18	chr8:99954600-99955600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:99954600-99956000	Enhancers	HMEC	breast
20	chr8:99954600-99956200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:99954600-99956200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr8:99954800-99955600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:99954800-99956600	Active TSS	Right Atrium	heart
24	chr8:99954800-99960000	Active TSS	NHDF-Ad	bronchial
25	chr8:99955000-99955600	Bivalent Enhancer	Colon Smooth Muscle	Colon
26	chr8:99955000-99955600	Weak transcription	HSMM	muscle
27	chr8:99955000-99955800	Bivalent Enhancer	Brain Hippocampus Middle	brain
28	chr8:99955000-99955800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr8:99955000-99956000	Weak transcription	Aorta	Aorta
30	chr8:99955000-99956000	Bivalent Enhancer	Fetal Intestine Small	intestine
31	chr8:99955000-99956000	Weak transcription	Psoas Muscle	Psoas
32	chr8:99955000-99956000	Weak transcription	Right Ventricle	heart
33	chr8:99955000-99956000	Bivalent Enhancer	HepG2	liver
34	chr8:99955000-99956200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
35	chr8:99955000-99956200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr8:99955000-99956400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
37	chr8:99955000-99956400	Weak transcription	Pancreas	Pancrea
38	chr8:99955000-99956400	Flanking Active TSS	NHEK	skin
39	chr8:99955000-99956600	Weak transcription	Gastric	stomach
40	chr8:99955000-99957400	Weak transcription	Dnd41	blood
41	chr8:99955000-99959400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:99955200-99955600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr8:99955200-99955600	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:99955200-99955600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:99955200-99955600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr8:99955200-99955800	Bivalent Enhancer	Osteobl	bone
47	chr8:99955200-99956000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:99955200-99956000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
49	chr8:99955200-99956000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr8:99955200-99956000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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