Variant report

Variant	rs17012677
Chromosome Location	chr2:33439240-33439241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12104905	1.00[AMR][1000 genomes]
rs12105049	1.00[AMR][1000 genomes]
rs12105569	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1454377	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012599	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012645	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012647	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17038528	1.00[AMR][1000 genomes]
rs55676641	1.00[AMR][1000 genomes]
rs56191261	1.00[AMR][1000 genomes]
rs57040194	1.00[AMR][1000 genomes]
rs58248415	1.00[AMR][1000 genomes]
rs58447746	1.00[AMR][1000 genomes]
rs59291317	1.00[AMR][1000 genomes]
rs61050968	1.00[AMR][1000 genomes]
rs61154196	1.00[AMR][1000 genomes]
rs61163843	1.00[AMR][1000 genomes]
rs6706960	1.00[AMR][1000 genomes]
rs6707278	1.00[AMR][1000 genomes]
rs6710588	1.00[AMR][1000 genomes]
rs6719885	1.00[AMR][1000 genomes]
rs6724967	1.00[AMR][1000 genomes]
rs6736870	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739497	1.00[AMR][1000 genomes]
rs6741450	1.00[AMR][1000 genomes]
rs6752263	1.00[AMR][1000 genomes]
rs73924181	1.00[AMR][1000 genomes]
rs73924183	1.00[AMR][1000 genomes]
rs73924186	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73924197	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73925003	1.00[AMR][1000 genomes]
rs73925009	1.00[AMR][1000 genomes]
rs73925011	1.00[AMR][1000 genomes]
rs73925681	1.00[AMR][1000 genomes]
rs73925695	1.00[AMR][1000 genomes]
rs73925697	1.00[AMR][1000 genomes]
rs73925698	1.00[AMR][1000 genomes]
rs73925700	1.00[AMR][1000 genomes]
rs73927363	1.00[AMR][1000 genomes]
rs73927504	1.00[AMR][1000 genomes]
rs73927505	1.00[AMR][1000 genomes]
rs73927506	1.00[AMR][1000 genomes]
rs73927507	1.00[AMR][1000 genomes]
rs73927508	1.00[AMR][1000 genomes]
rs73929408	1.00[AMR][1000 genomes]
rs73929409	1.00[AMR][1000 genomes]
rs7594149	1.00[AMR][1000 genomes]
rs957131	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv33628	chr2:33257484-33455355	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv873790	chr2:33369582-33466483	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33403800-33489800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:33409200-33441600	Weak transcription	Psoas Muscle	Psoas
3	chr2:33414600-33455400	Weak transcription	Fetal Stomach	stomach
4	chr2:33415200-33441600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:33415400-33441600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:33423000-33439400	Weak transcription	Pancreas	Pancrea
7	chr2:33423000-33439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:33434200-33439400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:33434200-33442200	Enhancers	HUVEC	blood vessel
10	chr2:33434600-33439400	Weak transcription	Lung	lung
11	chr2:33434600-33439400	Weak transcription	Right Ventricle	heart
12	chr2:33435000-33439400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:33435800-33444400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:33436000-33439400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:33436000-33441000	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:33436200-33440000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:33436400-33439600	Enhancers	Aorta	Aorta
18	chr2:33436400-33439800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:33436400-33442200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:33436600-33440200	Weak transcription	HSMM	muscle
21	chr2:33436600-33441600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:33436600-33444200	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:33436800-33440200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:33436800-33440400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:33436800-33443800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:33436800-33455000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:33437200-33443400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:33437400-33439400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:33437400-33444200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:33437600-33439400	Weak transcription	NHEK	skin
31	chr2:33437600-33441200	Weak transcription	HSMMtube	muscle
32	chr2:33437600-33441600	Weak transcription	Liver	Liver
33	chr2:33437800-33439400	Weak transcription	HMEC	breast
34	chr2:33437800-33439800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:33437800-33440000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:33437800-33442200	Enhancers	NH-A	brain
37	chr2:33437800-33444400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:33437800-33444600	Weak transcription	Hela-S3	cervix
39	chr2:33437800-33445200	Weak transcription	Fetal Kidney	kidney
40	chr2:33438000-33440000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:33438000-33443000	Enhancers	A549	lung
42	chr2:33438200-33439400	Weak transcription	Ovary	ovary
43	chr2:33438200-33439600	Weak transcription	K562	blood
44	chr2:33438200-33441600	Weak transcription	Esophagus	oesophagus
45	chr2:33438600-33440400	Enhancers	Rectal Smooth Muscle	rectum
46	chr2:33438800-33439400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:33438800-33439400	Weak transcription	Gastric	stomach
48	chr2:33438800-33439400	Enhancers	Osteobl	bone
49	chr2:33438800-33440000	Enhancers	Colon Smooth Muscle	Colon
50	chr2:33438800-33440600	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links