Variant report

Variant	rs17626434
Chromosome Location	chr2:114041976-114041977
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114033208..114035776-chr2:114039656..114042402,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10201645	0.83[AMR][1000 genomes]
rs10209795	0.92[CEU][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes]
rs11123174	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11123175	0.96[CEU][hapmap];0.93[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11679928	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11683025	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11687706	0.83[AMR][1000 genomes]
rs11688620	0.85[AMR][1000 genomes]
rs11889663	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12467534	0.82[AMR][1000 genomes]
rs12989922	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13002606	0.85[AMR][1000 genomes]
rs13022812	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13388160	0.80[AMR][1000 genomes]
rs17626470	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34657362	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4091938	0.81[AMR][1000 genomes]
rs4848324	0.96[CEU][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4848325	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4848326	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4848327	0.96[CEU][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4848328	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4848329	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4849191	0.83[AMR][1000 genomes]
rs4849192	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4849194	0.83[JPT][hapmap];0.83[AMR][1000 genomes]
rs6753679	0.83[CEU][hapmap];0.84[AMR][1000 genomes]
rs7587376	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv961872	chr2:114041837-114061641	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17626434	PAX8	cis	lung	GTEx
rs17626434	AC016683.6	cis	lung	GTEx
rs17626434	LOC654433	Cis_1M	lymphoblastoid	RTeQTL
rs17626434	AC016683.6	cis	Esophagus Mucosa	GTEx
rs17626434	AC016683.6	cis	Whole Blood	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114036600-114043800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:114037400-114043600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:114037600-114042200	Enhancers	Pancreas	Pancrea
4	chr2:114037600-114043800	Enhancers	HMEC	breast
5	chr2:114038200-114043800	Enhancers	Fetal Intestine Large	intestine
6	chr2:114038400-114043600	Enhancers	Fetal Intestine Small	intestine
7	chr2:114038600-114043600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:114038600-114043800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:114039000-114043800	Enhancers	HSMM	muscle
10	chr2:114039400-114042000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:114039400-114043000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:114039400-114043200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:114039400-114043200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr2:114039600-114042200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:114039600-114042400	Enhancers	Adipose Nuclei	Adipose
16	chr2:114039600-114042600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:114039600-114043400	Enhancers	Osteobl	bone
18	chr2:114039600-114043600	Enhancers	HSMMtube	muscle
19	chr2:114039600-114043800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:114039800-114042200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:114039800-114042200	Enhancers	Stomach Mucosa	stomach
22	chr2:114039800-114043600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:114040000-114042200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:114040000-114042600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:114040200-114042600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:114040400-114042000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:114040400-114042000	Enhancers	Placenta	Placenta
28	chr2:114040400-114042200	Enhancers	Fetal Heart	heart
29	chr2:114040400-114042400	Enhancers	Fetal Muscle Leg	muscle
30	chr2:114040400-114042400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr2:114040400-114042400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:114040400-114042800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:114040600-114042200	Enhancers	Left Ventricle	heart
34	chr2:114040600-114043600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:114040600-114043600	Enhancers	Colon Smooth Muscle	Colon
36	chr2:114040600-114043600	Enhancers	NHDF-Ad	bronchial
37	chr2:114040600-114047000	Enhancers	Liver	Liver
38	chr2:114040600-114047800	Weak transcription	Gastric	stomach
39	chr2:114040800-114042200	Enhancers	Fetal Muscle Trunk	muscle
40	chr2:114040800-114042400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:114040800-114042400	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:114040800-114042400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr2:114040800-114042400	Enhancers	Hela-S3	cervix
44	chr2:114040800-114043400	Enhancers	NHLF	lung
45	chr2:114041000-114042600	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr2:114041000-114043600	Enhancers	Rectal Smooth Muscle	rectum
47	chr2:114041200-114042400	Enhancers	Brain Substantia Nigra	brain
48	chr2:114041200-114042800	Enhancers	Fetal Stomach	stomach
49	chr2:114041200-114043600	Enhancers	NHEK	skin
50	chr2:114041400-114042200	Enhancers	Brain Angular Gyrus	brain

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