Variant report

Variant	rs9696630
Chromosome Location	chr9:95792388-95792389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95781146..95783755-chr9:95792336..95795083,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10992569	0.90[EUR][1000 genomes]
rs10992576	0.86[EUR][1000 genomes]
rs10992577	0.96[EUR][1000 genomes]
rs10992578	0.96[EUR][1000 genomes]
rs10992579	0.96[EUR][1000 genomes]
rs10992580	0.85[CEU][hapmap];0.96[EUR][1000 genomes]
rs10992584	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10992586	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992587	0.85[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992588	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10992599	0.85[CEU][hapmap];1.00[EUR][1000 genomes]
rs10992601	0.87[EUR][1000 genomes]
rs10992605	0.87[EUR][1000 genomes]
rs10992607	0.87[EUR][1000 genomes]
rs12377562	0.90[EUR][1000 genomes]
rs12380201	0.90[EUR][1000 genomes]
rs12380291	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12380789	0.90[EUR][1000 genomes]
rs41273404	0.90[EUR][1000 genomes]
rs55654224	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7043408	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs72741052	0.90[EUR][1000 genomes]
rs72741055	0.96[EUR][1000 genomes]
rs72741057	0.96[EUR][1000 genomes]
rs72741060	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72741063	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1054767	chr9:95738134-95875977	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh 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
3	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv893575	chr9:95781040-95854013	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv521136	chr9:95782667-95798871	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
6	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9696630	FGD3	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95766600-95794000	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:95770200-95793600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:95776600-95799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:95776600-95799400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:95779600-95798400	Strong transcription	Brain Germinal Matrix	brain
6	chr9:95783000-95793800	Weak transcription	Liver	Liver
7	chr9:95783600-95799000	Weak transcription	Esophagus	oesophagus
8	chr9:95784200-95795400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:95787800-95792400	Weak transcription	Fetal Brain Female	brain
10	chr9:95788000-95793600	Weak transcription	Fetal Muscle Leg	muscle
11	chr9:95789200-95794200	Weak transcription	Fetal Kidney	kidney
12	chr9:95789600-95795000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:95790600-95794000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr9:95791000-95800400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:95791200-95793400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr9:95791200-95795000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:95791200-95795600	Weak transcription	GM12878-XiMat	blood
18	chr9:95791200-95796200	Weak transcription	Colonic Mucosa	Colon
19	chr9:95791200-95798800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:95791200-95799800	Strong transcription	Thymus	Thymus
21	chr9:95791400-95796000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr9:95791400-95796800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr9:95791400-95798600	Strong transcription	Dnd41	blood
24	chr9:95791400-95799800	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr9:95791400-95800000	Genic enhancers	Primary monocytes fromperipheralblood	blood
26	chr9:95791400-95800000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:95791600-95793800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr9:95791600-95794600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
29	chr9:95791800-95792400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:95791800-95792400	Strong transcription	Pancreas	Pancrea
31	chr9:95791800-95792600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr9:95791800-95792800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
33	chr9:95791800-95792800	Strong transcription	Fetal Intestine Small	intestine
34	chr9:95791800-95793000	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr9:95791800-95793600	Weak transcription	Lung	lung
36	chr9:95791800-95794200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr9:95791800-95799800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
38	chr9:95792000-95792800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:95792000-95793400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr9:95792000-95793600	Strong transcription	Fetal Thymus	thymus
41	chr9:95792000-95793600	Strong transcription	Gastric	stomach
42	chr9:95792000-95794000	Genic enhancers	Monocytes-CD14+_RO01746	blood
43	chr9:95792000-95795000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr9:95792000-95795400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr9:95792000-95796400	Genic enhancers	Primary B cells from cord blood	blood
46	chr9:95792000-95797400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr9:95792000-95799200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr9:95792000-95800000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr9:95792200-95793200	Strong transcription	Fetal Intestine Large	intestine
50	chr9:95792200-95793800	Strong transcription	Spleen	Spleen

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