Variant report

Variant	rs34258625
Chromosome Location	chr11:17388134-17388135
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17386801..17391541-chr11:17392806..17398479,7	K562	blood:
2	chr11:17379653..17382608-chr11:17386484..17389844,3	K562	blood:
3	chr11:17375109..17378039-chr11:17387177..17388744,2	MCF-7	breast:
4	chr11:17371696..17377866-chr11:17385075..17388989,6	K562	blood:
5	chr11:17387455..17389488-chr11:17394125..17397016,2	K562	blood:
6	chr11:17374004..17375580-chr11:17385571..17388516,2	K562	blood:

Variant related genes	Relation type
ENSG00000188211	Chromatin interaction

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

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

rs_ID	r²[population]
rs11604345	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12791318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16933984	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1989133	0.81[ASN][1000 genomes]
rs2214286	0.84[ASN][1000 genomes]
rs2355016	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34000454	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34980243	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35246340	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4148644	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4433545	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4451707	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4757509	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59134929	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6486363	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7110037	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7121987	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7395803	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7480778	0.81[ASN][1000 genomes]
rs7937091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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
rs34258625	KCNJ11	cis	Esophagus Muscularis	GTEx

Chromatin state (count:75 , 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	chr11:17376000-17388200	Weak transcription	Thymus	Thymus
8	chr11:17376000-17388400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:17376000-17388400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:17376000-17389000	Weak transcription	NHLF	lung
11	chr11:17376000-17389800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:17376000-17389800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:17376000-17390000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:17376000-17391000	Weak transcription	Right Ventricle	heart
15	chr11:17376200-17390000	Weak transcription	Fetal Brain Male	brain
16	chr11:17376400-17390000	Weak transcription	HUVEC	blood vessel
17	chr11:17376400-17390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:17376600-17388400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:17376600-17389000	Weak transcription	Brain Angular Gyrus	brain
20	chr11:17376600-17391400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:17376800-17388800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:17376800-17388800	Weak transcription	Brain Anterior Caudate	brain
23	chr11:17377800-17388400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:17378400-17388200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:17380000-17388800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:17380200-17390200	Weak transcription	Osteobl	bone
27	chr11:17380800-17388600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:17381800-17388800	Strong transcription	HepG2	liver
29	chr11:17381800-17388800	Weak transcription	NHEK	skin
30	chr11:17382400-17388800	Weak transcription	HSMM	muscle
31	chr11:17382400-17401200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:17382600-17388600	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:17382600-17389000	Weak transcription	Fetal Stomach	stomach
34	chr11:17385200-17389600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:17385400-17388800	Weak transcription	Esophagus	oesophagus
36	chr11:17385400-17389600	Strong transcription	K562	blood
37	chr11:17385600-17390000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:17385800-17388200	Weak transcription	Fetal Intestine Small	intestine
39	chr11:17386000-17388400	Weak transcription	Fetal Brain Female	brain
40	chr11:17386000-17388800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:17386200-17389800	Weak transcription	Brain Germinal Matrix	brain
42	chr11:17386200-17390000	Weak transcription	Brain Substantia Nigra	brain
43	chr11:17386800-17390000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:17386800-17390000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr11:17386800-17390400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr11:17387000-17388600	Strong transcription	Dnd41	blood
47	chr11:17387000-17390600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:17387200-17388200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:17387200-17389000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:17387200-17389200	Strong transcription	Fetal Intestine Large	intestine

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