Variant report

Variant	rs212743
Chromosome Location	chr2:32410194-32410195
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	chr2:32405594..32407741-chr2:32408500..32410420,2	K562	blood:
2	chr2:32389125..32392352-chr2:32409870..32414228,3	K562	blood:

Variant related genes	Relation type
ENSG00000152683	Chromatin interaction
ENSG00000272716	Chromatin interaction

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

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

rs_ID	r²[population]
rs10172468	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10208246	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11124278	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11676475	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12465124	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12465351	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12474598	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12997026	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13427170	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs177083	0.85[EUR][1000 genomes]
rs212678	0.87[ASN][1000 genomes]
rs212679	0.92[ASN][1000 genomes]
rs212686	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs212687	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs212694	0.87[EUR][1000 genomes]
rs212703	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212704	0.84[EUR][1000 genomes]
rs212713	0.87[EUR][1000 genomes]
rs212738	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs212739	0.86[ASN][1000 genomes]
rs212740	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs212741	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs212744	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212745	0.97[ASN][1000 genomes]
rs212746	0.99[ASN][1000 genomes]
rs212748	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212749	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs212753	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs212755	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212757	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs212760	0.92[ASN][1000 genomes]
rs212762	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs216544	0.81[EUR][1000 genomes]
rs2280973	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2366736	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3752917	0.81[AMR][1000 genomes]
rs3851308	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4258846	0.82[ASN][1000 genomes]
rs4407291	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4519572	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4952209	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4952252	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55877106	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56208031	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62134021	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6716179	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717209	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6761417	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7581432	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7588883	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32391800-32431400	Weak transcription	Stomach Mucosa	stomach
4	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
5	chr2:32392000-32414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:32392000-32435800	Weak transcription	NHLF	lung
7	chr2:32392200-32411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
9	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:32393000-32412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:32396000-32414000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:32396200-32413600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:32398400-32412400	Strong transcription	Fetal Intestine Small	intestine
15	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:32400800-32418800	Weak transcription	NHDF-Ad	bronchial
17	chr2:32401800-32412200	Strong transcription	Fetal Stomach	stomach
18	chr2:32402800-32410400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:32403000-32411200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:32403800-32410200	Weak transcription	Fetal Lung	lung
22	chr2:32403800-32426200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:32404000-32411000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:32404200-32410200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:32404200-32410800	Weak transcription	Spleen	Spleen
26	chr2:32404200-32411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:32404200-32411000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:32404200-32412400	Weak transcription	Osteobl	bone
29	chr2:32404200-32413800	Weak transcription	GM12878-XiMat	blood
30	chr2:32404200-32417600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
32	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
33	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
35	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
36	chr2:32404400-32411200	Weak transcription	Lung	lung
37	chr2:32404400-32412000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:32404400-32413000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:32404400-32414200	Weak transcription	HMEC	breast
40	chr2:32404400-32416800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:32404400-32423800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:32404400-32427800	Weak transcription	Aorta	Aorta
43	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
44	chr2:32404400-32450800	Weak transcription	Gastric	stomach
45	chr2:32404600-32412200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:32404800-32410200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:32404800-32411000	Weak transcription	Fetal Brain Female	brain
48	chr2:32404800-32417600	Weak transcription	HSMM	muscle
49	chr2:32404800-32434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain

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