Variant report

Variant	rs6990988
Chromosome Location	chr8:121819478-121819479
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	TEAD4	chr8:121819079-121819497	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:121819147-121820061	HepG2	liver:	n/a	n/a
3	FOXA1	chr8:121819097-121819532	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:121819131-121820070	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:121819460-121820103	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121818871..121819911-chr8:121950995..121952120,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272502	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10094974	1.00[EUR][1000 genomes]
rs10110929	1.00[EUR][1000 genomes]
rs11987096	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11987139	1.00[EUR][1000 genomes]
rs11987168	1.00[EUR][1000 genomes]
rs11987295	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11994211	1.00[EUR][1000 genomes]
rs11997726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334417	1.00[EUR][1000 genomes]
rs12334422	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12334938	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12334939	1.00[EUR][1000 genomes]
rs28375696	1.00[EUR][1000 genomes]
rs28680434	1.00[EUR][1000 genomes]
rs28682880	1.00[EUR][1000 genomes]
rs34459319	1.00[EUR][1000 genomes]
rs4545142	1.00[EUR][1000 genomes]
rs57183264	1.00[EUR][1000 genomes]
rs57878111	1.00[EUR][1000 genomes]
rs59631348	1.00[EUR][1000 genomes]
rs60253883	1.00[EUR][1000 genomes]
rs6983952	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985457	0.81[AFR][1000 genomes]
rs6985486	0.89[ASW][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes]
rs6985550	0.82[AFR][1000 genomes]
rs6990646	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73323171	1.00[EUR][1000 genomes]
rs73323176	1.00[EUR][1000 genomes]
rs73323186	1.00[EUR][1000 genomes]
rs7459773	1.00[EUR][1000 genomes]
rs7829568	0.83[ASW][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][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	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	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121799000-121820800	Weak transcription	Aorta	Aorta
2	chr8:121799200-121819600	Weak transcription	Lung	lung
3	chr8:121799400-121820800	Weak transcription	Fetal Intestine Small	intestine
4	chr8:121801600-121820400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:121804800-121820800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:121805600-121821200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:121806800-121819800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:121808200-121820600	Weak transcription	HSMM	muscle
9	chr8:121809000-121820400	Weak transcription	NHLF	lung
10	chr8:121809000-121820600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:121811400-121820800	Weak transcription	Left Ventricle	heart
12	chr8:121813000-121820600	Weak transcription	Adipose Nuclei	Adipose
13	chr8:121813600-121820600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:121814600-121820400	Genic enhancers	HepG2	liver
15	chr8:121814600-121820600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:121815000-121819800	Enhancers	Liver	Liver
17	chr8:121815000-121822800	Weak transcription	Small Intestine	intestine
18	chr8:121815400-121820400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr8:121815600-121820800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:121816000-121819600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:121816000-121819600	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:121816000-121820800	Weak transcription	NHDF-Ad	bronchial
23	chr8:121816200-121820600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:121816600-121819800	Weak transcription	Fetal Kidney	kidney
25	chr8:121816800-121819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:121816800-121819800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:121816800-121820000	Weak transcription	Primary T cells from cord blood	blood
28	chr8:121816800-121820600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:121817200-121819800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:121817200-121820800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:121817200-121820800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:121817200-121820800	Weak transcription	HSMMtube	muscle
33	chr8:121817200-121821200	Weak transcription	Psoas Muscle	Psoas
34	chr8:121817200-121822000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:121817400-121820600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:121817600-121820800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:121817800-121819600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:121818400-121819800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:121818400-121821200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:121818600-121820200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:121818600-121820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:121818600-121820600	Enhancers	Primary hematopoietic stem cells	blood
43	chr8:121818600-121820800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:121818800-121820400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:121818800-121820800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:121819000-121820000	Enhancers	Gastric	stomach
47	chr8:121819000-121820200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr8:121819000-121820800	Enhancers	Pancreas	Pancrea
49	chr8:121819000-121821000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:121819200-121820000	Enhancers	H9 Cell Line	embryonic stem cell

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