Variant report

Variant	rs212738
Chromosome Location	chr2:32403322-32403323
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32389694..32394396-chr2:32399001..32405946,7	MCF-7	breast:
2	chr2:32401411..32403653-chr2:32405930..32408293,2	K562	blood:
3	chr2:32401110..32403653-chr2:32405850..32408293,2	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10172468	0.85[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10208246	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10490360	1.00[CHB][hapmap]
rs11124274	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11124275	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11124278	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11676475	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11676938	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11678119	0.95[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs11683760	0.82[ASN][1000 genomes]
rs11683842	0.82[ASN][1000 genomes]
rs11694630	0.89[ASN][1000 genomes]
rs12465124	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12465351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12474598	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12614686	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12989936	1.00[CHB][hapmap]
rs12995952	0.86[ASN][1000 genomes]
rs12997026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13017189	1.00[CHB][hapmap]
rs13022197	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs13427170	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs177083	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs17767988	1.00[CHB][hapmap]
rs212679	0.91[JPT][hapmap]
rs212686	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs212687	1.00[CEU][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs212694	0.89[EUR][1000 genomes]
rs212703	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212704	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs212706	0.83[CEU][hapmap]
rs212707	0.80[CEU][hapmap]
rs212708	0.83[CEU][hapmap]
rs212713	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs212715	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs212716	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs212717	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs212739	1.00[CHB][hapmap];0.96[JPT][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs212740	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs212741	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212743	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs212744	1.00[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212745	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs212746	0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs212748	1.00[CEU][hapmap];0.91[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212749	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs212752	0.81[EUR][1000 genomes]
rs212753	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs212755	1.00[CEU][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212757	0.93[EUR][1000 genomes]
rs212760	0.91[JPT][hapmap]
rs212762	0.95[CEU][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs216544	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs2280967	1.00[CHB][hapmap]
rs2280973	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2365555	1.00[CHB][hapmap]
rs2366736	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2886393	0.84[ASN][1000 genomes]
rs34976640	0.84[ASN][1000 genomes]
rs3752916	1.00[CHB][hapmap];0.96[JPT][hapmap]
rs3752917	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3769602	0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs3769603	0.82[ASN][1000 genomes]
rs3769604	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3769606	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs385076	0.83[CHB][hapmap]
rs3851308	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3851310	0.82[ASN][1000 genomes]
rs4258846	0.98[ASN][1000 genomes]
rs435572	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4407291	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs443609	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4519572	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs467523	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs479333	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4952209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4952248	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4952250	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4952252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55877106	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56208031	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62134021	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs659239	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6716179	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6717209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6723154	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs6725184	0.87[CHB][hapmap]
rs6737500	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6748621	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs6752375	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs6758024	1.00[CHB][hapmap]
rs6760105	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6761417	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72863940	0.82[AMR][1000 genomes]
rs7561519	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7566162	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs7572964	1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs7573543	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7577696	1.00[CHB][hapmap]
rs7581340	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7581432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586448	1.00[CHB][hapmap]
rs7588883	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7592239	0.87[ASN][1000 genomes]
rs7592356	0.84[ASN][1000 genomes]
rs7601267	1.00[CHB][hapmap];0.88[YRI][hapmap]
rs7604289	0.82[ASN][1000 genomes]
rs7605242	1.00[CHB][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking 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	23 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32403400	Weak transcription	Aorta	Aorta
2	chr2:32391600-32406600	Weak transcription	Small Intestine	intestine
3	chr2:32391600-32409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:32391600-32426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:32391800-32409600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:32391800-32431400	Weak transcription	Stomach Mucosa	stomach
8	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
9	chr2:32392000-32403600	Weak transcription	Fetal Kidney	kidney
10	chr2:32392000-32403800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:32392000-32403800	Weak transcription	HSMMtube	muscle
12	chr2:32392000-32414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:32392000-32435800	Weak transcription	NHLF	lung
14	chr2:32392200-32403600	Weak transcription	HUVEC	blood vessel
15	chr2:32392200-32411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
17	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:32392800-32410000	Weak transcription	Hela-S3	cervix
19	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:32393000-32412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:32395400-32405600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:32396000-32403800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:32396000-32414000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:32396200-32404800	Strong transcription	Dnd41	blood
25	chr2:32396200-32405600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:32396200-32413600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:32396400-32404400	Strong transcription	HepG2	liver
28	chr2:32396800-32405200	Strong transcription	Fetal Muscle Leg	muscle
29	chr2:32397000-32404800	Strong transcription	HSMM	muscle
30	chr2:32397000-32405200	Strong transcription	Liver	Liver
31	chr2:32397000-32405200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:32397000-32405800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:32397200-32404400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:32397200-32404600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:32397200-32404800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:32397200-32404800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:32397200-32404800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:32397200-32405000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:32397200-32405200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:32397200-32405600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:32397200-32405800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr2:32397200-32408000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:32397400-32405600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:32397400-32406600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:32397600-32405400	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr2:32397800-32405200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:32398200-32406000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:32398400-32406200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:32398400-32409400	Weak transcription	NHEK	skin
50	chr2:32398400-32412400	Strong transcription	Fetal Intestine Small	intestine

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