Variant report

Variant	rs7395803
Chromosome Location	chr11:17380009-17380010
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	chr11:17379653..17382608-chr11:17386484..17389844,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12791318	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16933984	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1989133	0.91[ASN][1000 genomes]
rs2214286	0.95[ASN][1000 genomes]
rs2355016	0.84[AMR][1000 genomes]
rs2883548	0.89[ASN][1000 genomes]
rs34000454	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34258625	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34980243	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35246340	0.84[AMR][1000 genomes]
rs4148644	0.81[AMR][1000 genomes]
rs4433545	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4451707	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757509	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59134929	0.84[AMR][1000 genomes]
rs6486363	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110037	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121987	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7480778	0.91[ASN][1000 genomes]
rs7937091	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7395803	KCNJ11	cis	Esophagus Muscularis	GTEx

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17375400-17388800	Weak transcription	Spleen	Spleen
2	chr11:17375400-17389600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:17375400-17390200	Weak transcription	Small Intestine	intestine
4	chr11:17375600-17388400	Weak transcription	Gastric	stomach
5	chr11:17375600-17388600	Weak transcription	Left Ventricle	heart
6	chr11:17375600-17389000	Weak transcription	Pancreas	Pancrea
7	chr11:17375800-17387600	Weak transcription	Aorta	Aorta
8	chr11:17376000-17382400	Weak transcription	Fetal Stomach	stomach
9	chr11:17376000-17385400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:17376000-17387200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:17376000-17387400	Weak transcription	Primary T cells from cord blood	blood
12	chr11:17376000-17387600	Weak transcription	Placenta	Placenta
13	chr11:17376000-17387600	Weak transcription	Ovary	ovary
14	chr11:17376000-17387800	Weak transcription	HSMMtube	muscle
15	chr11:17376000-17388000	Weak transcription	Colonic Mucosa	Colon
16	chr11:17376000-17388200	Weak transcription	Thymus	Thymus
17	chr11:17376000-17388400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:17376000-17388400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:17376000-17389000	Weak transcription	NHLF	lung
20	chr11:17376000-17389800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:17376000-17389800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:17376000-17390000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:17376000-17391000	Weak transcription	Right Ventricle	heart
24	chr11:17376200-17381200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:17376200-17385800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:17376200-17390000	Weak transcription	Fetal Brain Male	brain
27	chr11:17376400-17380400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:17376400-17390000	Weak transcription	HUVEC	blood vessel
29	chr11:17376400-17390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:17376600-17380200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:17376600-17380600	Weak transcription	NHEK	skin
32	chr11:17376600-17387600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:17376600-17387800	Weak transcription	NHDF-Ad	bronchial
34	chr11:17376600-17388000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:17376600-17388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:17376600-17388000	Weak transcription	HMEC	breast
37	chr11:17376600-17388400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:17376600-17389000	Weak transcription	Brain Angular Gyrus	brain
39	chr11:17376600-17391400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:17376800-17387400	Weak transcription	Hela-S3	cervix
41	chr11:17376800-17388800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:17376800-17388800	Weak transcription	Brain Anterior Caudate	brain
43	chr11:17377400-17387200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:17377800-17388400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:17378000-17380600	Strong transcription	Dnd41	blood
46	chr11:17378000-17381000	Strong transcription	Fetal Intestine Large	intestine
47	chr11:17378200-17383400	Strong transcription	K562	blood
48	chr11:17378200-17383800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:17378400-17380200	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr11:17378400-17382800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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