Variant report

Variant	rs290222
Chromosome Location	chr9:93642669-93642670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93633763..93637108-chr9:93639159..93643075,3	MCF-7	breast:
2	chr9:93636708..93639399-chr9:93641106..93642988,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs158690	0.86[EUR][1000 genomes]
rs1675328	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1675333	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1755937	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1755938	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs182343	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2780709	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs290205	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs290221	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290226	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs290228	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs290255	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1039761	chr9:93598856-93677831	Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1039326	chr9:93598856-93685729	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv430078	chr9:93609668-93642766	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1053252	chr9:93610132-93699103	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv430079	chr9:93620963-93642766	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv416495	chr9:93638584-93643961	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv416141	chr9:93638589-93643961	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93626000-93647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:93630000-93644800	Weak transcription	Pancreas	Pancrea
3	chr9:93633400-93645800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr9:93633800-93645400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:93634000-93645800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr9:93634000-93646200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:93634000-93646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:93634000-93666200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr9:93634400-93646600	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr9:93635600-93646200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr9:93636000-93644000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:93636400-93650600	Weak transcription	Liver	Liver
13	chr9:93638800-93646800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr9:93639400-93642800	Strong transcription	Spleen	Spleen
15	chr9:93639400-93643400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:93639400-93643600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:93639400-93643600	Strong transcription	Gastric	stomach
18	chr9:93639400-93645600	Strong transcription	Thymus	Thymus
19	chr9:93639400-93645800	Strong transcription	Fetal Thymus	thymus
20	chr9:93639400-93646200	Strong transcription	Fetal Stomach	stomach
21	chr9:93639400-93646400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr9:93639400-93647000	Weak transcription	HMEC	breast
23	chr9:93639800-93643400	Strong transcription	Fetal Intestine Large	intestine
24	chr9:93640000-93646400	Strong transcription	Primary hematopoietic stem cells	blood
25	chr9:93641200-93645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr9:93641200-93657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:93641400-93646200	Weak transcription	NHEK	skin
28	chr9:93641600-93643400	Strong transcription	Colonic Mucosa	Colon
29	chr9:93641600-93644800	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr9:93641800-93644600	Genic enhancers	Primary B cells from cord blood	blood
31	chr9:93641800-93646200	Weak transcription	K562	blood
32	chr9:93642200-93643000	Strong transcription	Stomach Mucosa	stomach
33	chr9:93642200-93643400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:93642200-93643600	Strong transcription	Rectal Smooth Muscle	rectum
35	chr9:93642400-93643200	Strong transcription	Small Intestine	intestine
36	chr9:93642400-93643200	Genic enhancers	GM12878-XiMat	blood
37	chr9:93642400-93643400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:93642400-93643400	Strong transcription	Lung	lung
39	chr9:93642400-93643600	Strong transcription	Esophagus	oesophagus
40	chr9:93642400-93646400	Strong transcription	Fetal Intestine Small	intestine
41	chr9:93642600-93642800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:93642600-93643200	ZNF genes & repeats	Adipose Nuclei	Adipose
43	chr9:93642600-93643400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:93642600-93646200	Weak transcription	Fetal Kidney	kidney

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