Variant report

Variant	rs7038619
Chromosome Location	chr9:79252767-79252768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:79246595..79248978-chr9:79251250..79253057,2	K562	blood:
2	chr9:79250987..79254050-chr9:79259646..79261741,3	MCF-7	breast:
3	chr9:79249647..79252169-chr9:79252243..79253887,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106772	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10521475	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11144986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11144987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144992	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11144996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs17062768	1.00[CEU][hapmap]
rs17062772	1.00[CEU][hapmap]
rs17062775	1.00[CEU][hapmap]
rs17062778	1.00[CEU][hapmap]
rs17062858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1854441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs1952460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs499746	1.00[CEU][hapmap]
rs57389265	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs634063	0.93[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs637207	1.00[CEU][hapmap]
rs644893	1.00[CEU][hapmap]
rs7027074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7028756	0.89[ASN][1000 genomes]
rs7039310	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7045505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7847922	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7859873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79225400-79265600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:79232800-79261400	Weak transcription	Colonic Mucosa	Colon
3	chr9:79234400-79257800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr9:79234400-79259600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:79236000-79257000	Weak transcription	Osteobl	bone
6	chr9:79236200-79257400	Weak transcription	Adipose Nuclei	Adipose
7	chr9:79236200-79257600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:79238600-79261200	Strong transcription	HSMM	muscle
9	chr9:79239600-79254400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:79240000-79260800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr9:79241000-79260800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:79243400-79252800	Weak transcription	Primary B cells from cord blood	blood
13	chr9:79244000-79257200	Weak transcription	Fetal Thymus	thymus
14	chr9:79244600-79260200	Strong transcription	HSMMtube	muscle
15	chr9:79246800-79254800	Weak transcription	Fetal Heart	heart
16	chr9:79247600-79255400	Weak transcription	Brain Angular Gyrus	brain
17	chr9:79247600-79258200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:79247600-79258400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr9:79248200-79254800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr9:79248400-79256600	Weak transcription	Aorta	Aorta
21	chr9:79248400-79257600	Weak transcription	Fetal Stomach	stomach
22	chr9:79248800-79257000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr9:79249200-79257200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr9:79249400-79254600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:79249600-79252800	Weak transcription	Fetal Intestine Small	intestine
26	chr9:79249600-79252800	Weak transcription	Small Intestine	intestine
27	chr9:79249600-79257200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:79249600-79257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:79249600-79257800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:79249600-79257800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:79249600-79260000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:79249600-79261000	Weak transcription	NH-A	brain
33	chr9:79249600-79265400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr9:79249600-79265600	Weak transcription	NHDF-Ad	bronchial
35	chr9:79249600-79265600	Weak transcription	NHLF	lung
36	chr9:79249800-79253000	Weak transcription	Brain Substantia Nigra	brain
37	chr9:79250000-79252800	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:79250000-79253000	Weak transcription	Brain Anterior Caudate	brain
39	chr9:79250000-79253800	Weak transcription	Fetal Intestine Large	intestine
40	chr9:79250000-79257000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr9:79250400-79254600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:79250800-79257200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr9:79251800-79252800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr9:79251800-79253000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:79251800-79253200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr9:79251800-79253200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr9:79251800-79253200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr9:79251800-79254000	Enhancers	HMEC	breast
49	chr9:79252000-79252800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr9:79252000-79252800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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