Variant report

Variant	rs6997158
Chromosome Location	chr8:121820736-121820737
allele	C/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	HEY1	chr8:121820697-121826988	HepG2	liver:	n/a	n/a
2	ZNF143	chr8:121820734-121821214	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr8:121820660-121820810	Hela-S3	cervix:	n/a	n/a
4	TEAD4	chr8:121820600-121823717	HepG2	liver:	n/a	n/a
5	MBD4	chr8:121820544-121823336	HepG2	liver:	n/a	n/a
6	TEAD4	chr8:121820722-121821104	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:121820609-121823747	HepG2	liver:	n/a	n/a
8	NFIC	chr8:121820705-121823691	HepG2	liver:	n/a	n/a
9	RAD21	chr8:121820636-121821414	SK-N-SH	brain:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
10	SMC3	chr8:121820636-121821841	SK-N-SH	brain:	n/a	chr8:121821033-121821043 chr8:121821029-121821043
11	CTCF	chr8:121820720-121820778	HUVEC	blood vessel:	n/a	n/a
12	ATF2	chr8:121820670-121821206	H1-hESC	embryonic stem cell:	n/a	n/a
13	HEY1	chr8:121820462-121821667	HepG2	liver:	n/a	n/a
14	FOXA2	chr8:121820666-121822764	HepG2	liver:	n/a	n/a
15	POLR2A	chr8:121820347-121826968	HepG2	liver:	n/a	n/a
16	CTCF	chr8:121820537-121821681	A549	lung:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043
17	POLR2A	chr8:121820451-121826897	HepG2	liver:	n/a	n/a
18	TEAD4	chr8:121820721-121821169	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYBL2	chr8:121820696-121823771	HepG2	liver:	n/a	n/a
20	MYBL2	chr8:121820686-121821645	HepG2	liver:	n/a	n/a
21	RAD21	chr8:121820696-121822526	HepG2	liver:	n/a	chr8:121821033-121821043 chr8:121821028-121821047 chr8:121822131-121822145
22	RAD21	chr8:121820694-121821385	HCT-116	colon:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
23	RAD21	chr8:121820686-121821505	HepG2	liver:	n/a	chr8:121821033-121821043 chr8:121821028-121821047
24	POLR2A	chr8:121820663-121820938	HepG2	liver:	n/a	n/a
25	CTCF	chr8:121820636-121821428	SK-N-SH	brain:	n/a	chr8:121821030-121821039 chr8:121821028-121821044 chr8:121821030-121821043 chr8:121821032-121821042 chr8:121821027-121821045 chr8:121821029-121821050 chr8:121821030-121821043

No.	Distal block	Cell Line	Cell type
1	chr8:121820504..121821998-chr8:121950958..121951966,14	MCF-7	breast:
2	chr8:121820684..121821811-chr8:121951035..121951836,4	MCF-7	breast:
3	chr8:121777510..121779524-chr8:121820645..121822626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272502	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs7011886	0.85[AMR][1000 genomes]
rs73323189	0.85[AMR][1000 genomes]
rs7836252	0.85[AMR][1000 genomes]
rs7836635	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121799000-121820800	Weak transcription	Aorta	Aorta
2	chr8:121799400-121820800	Weak transcription	Fetal Intestine Small	intestine
3	chr8:121804800-121820800	Weak transcription	Fetal Intestine Large	intestine
4	chr8:121805600-121821200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:121811400-121820800	Weak transcription	Left Ventricle	heart
6	chr8:121815000-121822800	Weak transcription	Small Intestine	intestine
7	chr8:121815600-121820800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr8:121816000-121820800	Weak transcription	NHDF-Ad	bronchial
9	chr8:121817200-121820800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:121817200-121820800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:121817200-121820800	Weak transcription	HSMMtube	muscle
12	chr8:121817200-121821200	Weak transcription	Psoas Muscle	Psoas
13	chr8:121817200-121822000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:121817600-121820800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:121818400-121821200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:121818600-121820800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:121818800-121820800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:121819000-121820800	Enhancers	Pancreas	Pancrea
19	chr8:121819000-121821000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:121819200-121820800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr8:121819200-121823800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:121819400-121821000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr8:121819400-121821200	Enhancers	Fetal Stomach	stomach
24	chr8:121819600-121820800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:121819600-121820800	Enhancers	Fetal Muscle Leg	muscle
26	chr8:121819600-121821600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:121819600-121822000	Enhancers	Fetal Lung	lung
28	chr8:121819800-121820800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:121819800-121820800	Enhancers	Fetal Kidney	kidney
30	chr8:121819800-121821000	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:121819800-121821600	Flanking Active TSS	Liver	Liver
32	chr8:121820000-121820800	Weak transcription	Right Atrium	heart
33	chr8:121820000-121820800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:121820000-121821400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:121820000-121822000	Weak transcription	Gastric	stomach
36	chr8:121820000-121822000	Weak transcription	Lung	lung
37	chr8:121820000-121822600	Weak transcription	Spleen	Spleen
38	chr8:121820200-121820800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr8:121820400-121820800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:121820400-121820800	Flanking Active TSS	NHLF	lung
41	chr8:121820400-121821000	Flanking Active TSS	HepG2	liver
42	chr8:121820400-121821000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr8:121820400-121821200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:121820600-121820800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:121820600-121820800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:121820600-121820800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:121820600-121820800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:121820600-121820800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:121820600-121820800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:121820600-121820800	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links