Variant report

Variant	rs212754
Chromosome Location	chr2:32421628-32421629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32389104..32394341-chr2:32415587..32422183,9	K562	blood:
2	chr2:32421283..32424261-chr2:32426990..32429162,2	MCF-7	breast:
3	chr2:32389478..32392429-chr2:32419800..32422403,2	MCF-7	breast:
4	chr2:32419509..32422064-chr2:32580659..32583571,2	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000115760	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11678119	0.84[CEU][hapmap]
rs11691939	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12478134	1.00[CEU][hapmap]
rs12614686	0.84[CEU][hapmap]
rs12991444	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs12996943	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13006495	1.00[CEU][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13013695	0.89[JPT][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17011801	1.00[CEU][hapmap]
rs177082	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs186135	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs212682	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212683	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs212684	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	1.00[CEU][hapmap]
rs212742	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs212747	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212761	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280968	1.00[CEU][hapmap]
rs2294178	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2366547	0.84[CEU][hapmap];0.84[JPT][hapmap]
rs34197800	1.00[CEU][hapmap];0.89[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35978916	0.89[EUR][1000 genomes]
rs375050	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]
rs3752916	0.85[CEU][hapmap]
rs3769602	0.84[CEU][hapmap]
rs3769605	0.92[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3851310	0.85[CEU][hapmap]
rs410469	1.00[CEU][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4530415	0.80[ASN][1000 genomes]
rs462878	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4952207	0.80[ASN][1000 genomes]
rs56322034	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6543648	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6723154	0.84[CEU][hapmap]
rs6756085	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs686005	0.85[EUR][1000 genomes]
rs7562653	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7572964	0.85[CEU][hapmap]
rs7574000	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs805831	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9789593	0.91[AFR][1000 genomes];0.83[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: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	chr2:32392000-32435800	Weak transcription	NHLF	lung
6	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
7	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:32403800-32426200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
14	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
16	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
17	chr2:32404400-32423800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:32404400-32427800	Weak transcription	Aorta	Aorta
19	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
20	chr2:32404400-32450800	Weak transcription	Gastric	stomach
21	chr2:32404800-32434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:32405800-32423800	Weak transcription	Ovary	ovary
24	chr2:32408000-32424000	Weak transcription	Brain Anterior Caudate	brain
25	chr2:32408000-32426000	Weak transcription	HSMMtube	muscle
26	chr2:32408000-32428000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:32408000-32435800	Weak transcription	Psoas Muscle	Psoas
28	chr2:32408400-32423800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:32410200-32422400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:32410400-32436000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:32410400-32445200	Weak transcription	Fetal Kidney	kidney
32	chr2:32410600-32445200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:32411400-32422600	Weak transcription	NH-A	brain
34	chr2:32411400-32445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr2:32411600-32423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:32411600-32447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:32412000-32422000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:32412000-32426400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
40	chr2:32412200-32444200	Weak transcription	Fetal Brain Female	brain
41	chr2:32412600-32426600	Weak transcription	Lung	lung
42	chr2:32412800-32422200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:32412800-32445200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:32413000-32422400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:32413000-32422800	Weak transcription	Brain Germinal Matrix	brain
46	chr2:32413000-32426000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:32413200-32422600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:32413200-32426000	Weak transcription	Hela-S3	cervix
49	chr2:32413200-32433600	Weak transcription	Fetal Lung	lung
50	chr2:32413400-32422200	Weak transcription	K562	blood

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