Variant report

Variant	rs6958793
Chromosome Location	chr7:50509045-50509046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50507899..50510856-chr7:50521502..50523309,2	K562	blood:
2	chr7:50509032..50512435-chr7:50512756..50515852,4	K562	blood:
3	chr7:50505120..50506790-chr7:50508425..50510796,2	K562	blood:
4	chr7:50508600..50510665-chr7:50513721..50515795,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1007702	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1007749	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575332	1.00[EUR][1000 genomes]
rs11575359	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575400	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575413	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575424	0.81[AMR][1000 genomes]
rs11575425	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575506	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531158	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12535024	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451370	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665398	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665588	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665670	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1817073	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1868886	1.00[AMR][1000 genomes]
rs3735276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779075	1.00[EUR][1000 genomes]
rs3779076	1.00[EUR][1000 genomes]
rs4947511	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4947576	0.81[AMR][1000 genomes]
rs4947580	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947594	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947634	1.00[EUR][1000 genomes]
rs4948010	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4948197	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948201	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948216	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57313968	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6592962	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6951323	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952938	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6953661	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959596	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976009	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs731689	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792474	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7800887	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50486200-50513200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:50495200-50513000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:50495200-50517200	Weak transcription	Stomach Mucosa	stomach
4	chr7:50495600-50513800	Weak transcription	HepG2	liver
5	chr7:50496000-50513000	Weak transcription	Gastric	stomach
6	chr7:50496200-50517600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:50499400-50513000	Weak transcription	Psoas Muscle	Psoas
8	chr7:50500000-50513400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:50500600-50513000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:50501000-50517400	Weak transcription	Esophagus	oesophagus
11	chr7:50502200-50513600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:50502400-50517200	Weak transcription	Small Intestine	intestine
13	chr7:50503000-50513000	Weak transcription	Spleen	Spleen
14	chr7:50503600-50512800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:50503800-50511600	Weak transcription	K562	blood
16	chr7:50503800-50512400	Weak transcription	Placenta	Placenta
17	chr7:50504200-50511400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:50504200-50513200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:50504200-50513800	Weak transcription	NH-A	brain
20	chr7:50504400-50509600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:50504400-50511000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:50504400-50513000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:50504400-50513000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:50504600-50510000	Strong transcription	Primary T cells from cord blood	blood
25	chr7:50504600-50511800	Strong transcription	Fetal Thymus	thymus
26	chr7:50504600-50513000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:50504600-50513000	Weak transcription	Brain Substantia Nigra	brain
28	chr7:50504600-50513000	Strong transcription	Dnd41	blood
29	chr7:50504600-50513200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:50504600-50513400	Weak transcription	Brain Angular Gyrus	brain
31	chr7:50504600-50513800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:50504600-50515000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:50504600-50517200	Weak transcription	Pancreas	Pancrea
34	chr7:50504800-50509400	Strong transcription	Fetal Intestine Small	intestine
35	chr7:50504800-50513000	Weak transcription	Hela-S3	cervix
36	chr7:50504800-50513000	Weak transcription	NHLF	lung
37	chr7:50504800-50513000	Weak transcription	Osteobl	bone
38	chr7:50504800-50513200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:50504800-50513200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:50504800-50513400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:50504800-50516000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:50504800-50516800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:50504800-50517400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr7:50505000-50511000	Weak transcription	NHDF-Ad	bronchial
45	chr7:50505000-50513000	Weak transcription	Left Ventricle	heart
46	chr7:50505000-50513400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:50505000-50513800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:50505400-50513400	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:50505400-50517200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr7:50505400-50517200	Weak transcription	Placenta Amnion	Placenta Amnion

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