Variant report

Variant	rs12612655
Chromosome Location	chr2:152588150-152588151
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152561165..152563453-chr2:152587104..152589381,2	K562	blood:
2	chr2:152575075..152576644-chr2:152586756..152588663,2	K562	blood:

Variant related genes	Relation type
ENSG00000183091	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10189865	1.00[EUR][1000 genomes]
rs1022388	1.00[EUR][1000 genomes]
rs10930834	1.00[EUR][1000 genomes]
rs12612539	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12618365	1.00[ASN][1000 genomes]
rs12619249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12621850	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12623646	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13025115	1.00[EUR][1000 genomes]
rs13030833	1.00[EUR][1000 genomes]
rs13413290	1.00[EUR][1000 genomes]
rs1356734	1.00[EUR][1000 genomes]
rs1401779	1.00[EUR][1000 genomes]
rs1519705	1.00[EUR][1000 genomes]
rs1519706	1.00[EUR][1000 genomes]
rs1519707	1.00[EUR][1000 genomes]
rs16830140	1.00[EUR][1000 genomes]
rs16830170	1.00[EUR][1000 genomes]
rs16830173	1.00[EUR][1000 genomes]
rs16830174	1.00[EUR][1000 genomes]
rs16830189	1.00[EUR][1000 genomes]
rs16830216	1.00[EUR][1000 genomes]
rs16830236	1.00[EUR][1000 genomes]
rs1980227	1.00[EUR][1000 genomes]
rs2176739	1.00[EUR][1000 genomes]
rs2460440	1.00[EUR][1000 genomes]
rs3213817	1.00[EUR][1000 genomes]
rs35967764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41525550	1.00[EUR][1000 genomes]
rs4549085	1.00[EUR][1000 genomes]
rs4603764	1.00[EUR][1000 genomes]
rs59471708	1.00[EUR][1000 genomes]
rs6730990	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7569133	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7608502	0.89[ASN][1000 genomes]
rs939238	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv933357	chr2:152526786-152591138	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152584000-152588400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:152584000-152588600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:152584000-152591000	Enhancers	Fetal Lung	lung
4	chr2:152584200-152588200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:152584200-152588200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:152584200-152588400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:152584600-152588400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:152584800-152588200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:152584800-152610400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:152586400-152588600	Weak transcription	Psoas Muscle	Psoas
11	chr2:152586400-152588600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr2:152586800-152588200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:152587000-152596000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:152587200-152588200	Enhancers	HSMM	muscle
15	chr2:152587400-152588400	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr2:152587600-152590400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:152587600-152591200	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:152587800-152588600	Weak transcription	HSMMtube	muscle
19	chr2:152587800-152591000	Active TSS	Fetal Muscle Leg	muscle
20	chr2:152588000-152588600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:152588000-152590400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:152588000-152595600	Weak transcription	Primary B cells from cord blood	blood

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