Variant report

Variant	rs375050
Chromosome Location	chr2:32413765-32413766
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	chr2:32389125..32392352-chr2:32409870..32414228,3	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11678119	0.82[CEU][hapmap]
rs11691939	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12478134	1.00[CEU][hapmap]
rs12614686	0.82[CEU][hapmap]
rs12991444	0.87[CEU][hapmap];0.85[JPT][hapmap]
rs12996943	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13006495	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13013695	0.90[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17011801	1.00[CEU][hapmap]
rs177082	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs186135	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs212682	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs212683	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs212684	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs212689	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs212690	0.89[EUR][1000 genomes]
rs212691	0.89[EUR][1000 genomes]
rs212696	0.89[EUR][1000 genomes]
rs212710	0.85[EUR][1000 genomes]
rs212736	0.93[CEU][hapmap]
rs212742	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs212747	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs212751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs212761	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280968	1.00[CEU][hapmap]
rs2294178	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2366547	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs34197800	1.00[CEU][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35978916	0.87[EUR][1000 genomes]
rs3752916	0.83[CEU][hapmap]
rs3769602	0.82[CEU][hapmap]
rs3769605	0.93[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3851310	0.83[CEU][hapmap]
rs410469	0.93[CEU][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs462878	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs56322034	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6543648	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6723154	0.82[CEU][hapmap]
rs6756085	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs686005	0.85[EUR][1000 genomes]
rs7562653	0.93[CEU][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7572964	0.83[CEU][hapmap]
rs7574000	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs805831	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9789593	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]

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	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
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 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	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
8	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:32396000-32414000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:32400800-32418800	Weak transcription	NHDF-Ad	bronchial
13	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:32403800-32426200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:32404200-32413800	Weak transcription	GM12878-XiMat	blood
16	chr2:32404200-32417600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
18	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
19	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
21	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
22	chr2:32404400-32414200	Weak transcription	HMEC	breast
23	chr2:32404400-32416800	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:32404400-32423800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr2:32404400-32427800	Weak transcription	Aorta	Aorta
26	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
27	chr2:32404400-32450800	Weak transcription	Gastric	stomach
28	chr2:32404800-32417600	Weak transcription	HSMM	muscle
29	chr2:32404800-32434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:32405200-32418200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:32405400-32413800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:32405800-32414200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:32405800-32420600	Weak transcription	Left Ventricle	heart
35	chr2:32405800-32423800	Weak transcription	Ovary	ovary
36	chr2:32407200-32421600	Weak transcription	Small Intestine	intestine
37	chr2:32407400-32414400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:32408000-32418400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:32408000-32424000	Weak transcription	Brain Anterior Caudate	brain
40	chr2:32408000-32426000	Weak transcription	HSMMtube	muscle
41	chr2:32408000-32428000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:32408000-32435800	Weak transcription	Psoas Muscle	Psoas
43	chr2:32408400-32423800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:32408800-32414200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:32409400-32421000	Strong transcription	HepG2	liver
46	chr2:32409600-32413800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:32409800-32413800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:32410000-32413800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:32410000-32413800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:32410000-32414000	Strong transcription	Primary B cells from peripheral blood	blood

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