Variant report

Variant	rs2683477
Chromosome Location	chr12:32165075-32165076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2442064	0.90[ASN][1000 genomes]
rs2442065	0.90[ASN][1000 genomes]
rs2442066	0.90[ASN][1000 genomes]
rs2460870	0.90[ASN][1000 genomes]
rs61931417	0.87[ASN][1000 genomes]
rs7299419	0.85[ASN][1000 genomes]
rs7961746	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32152800-32165600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:32152800-32165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:32154000-32165400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:32154200-32165400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:32154400-32165400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:32154400-32177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:32154400-32178400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:32154800-32165600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:32154800-32167800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:32154800-32178000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:32154800-32179400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:32155000-32165400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:32155800-32173600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:32156200-32177800	Weak transcription	Primary T cells from cord blood	blood
15	chr12:32156200-32179000	Weak transcription	Primary B cells from cord blood	blood
16	chr12:32156600-32168000	Weak transcription	Thymus	Thymus
17	chr12:32159000-32165600	Weak transcription	Right Atrium	heart
18	chr12:32163400-32165800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:32163600-32166600	Enhancers	K562	blood
20	chr12:32163800-32165200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:32163800-32165400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:32163800-32165600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:32164000-32165400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:32164400-32165400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:32164800-32165200	Weak transcription	Ovary	ovary

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