Variant report

Variant	rs12615584
Chromosome Location	chr2:173397690-173397691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173383730..173386228-chr2:173396798..173398654,2	MCF-7	breast:
2	chr2:173396346..173398375-chr2:173419813..173422307,2	MCF-7	breast:
3	chr2:173396696..173398537-chr2:173419418..173421031,2	K562	blood:

Variant related genes	Relation type
ENSG00000225205	Chromatin interaction
ENSG00000152256	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1001926	1.00[AFR][1000 genomes]
rs10187564	0.85[EUR][1000 genomes]
rs10207640	0.85[EUR][1000 genomes]
rs10207654	0.85[EUR][1000 genomes]
rs10930559	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12052253	0.85[EUR][1000 genomes]
rs12052385	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12053442	1.00[AFR][1000 genomes]
rs12613307	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12615596	0.82[EUR][1000 genomes]
rs12621278	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12622724	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13410475	0.85[EUR][1000 genomes]
rs13414928	0.82[EUR][1000 genomes]
rs1574256	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1574259	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16860397	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16860419	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16860426	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16860438	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16860478	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860513	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16860515	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16860634	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16860643	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2008518	1.00[AFR][1000 genomes]
rs2178476	1.00[AFR][1000 genomes]
rs2272496	1.00[AFR][1000 genomes]
rs2293645	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293647	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2293648	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762618	0.85[EUR][1000 genomes]
rs4405725	0.82[EUR][1000 genomes]
rs55867175	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56882727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57244773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57404607	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57587465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59300838	0.81[ASN][1000 genomes]
rs59374567	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59454075	0.85[EUR][1000 genomes]
rs59476799	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59970483	1.00[EUR][1000 genomes]
rs60096331	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6730284	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741759	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743174	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591769	0.82[ASN][1000 genomes]
rs9636257	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173392000-173398200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:173392000-173400000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr2:173392600-173419600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:173393600-173398600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:173395600-173398200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:173395600-173398400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:173395800-173398800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:173396000-173398600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:173397200-173397800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr2:173397400-173398200	Weak transcription	Left Ventricle	heart
11	chr2:173397600-173397800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:173397600-173399800	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr2:173397600-173400400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr2:173397600-173400600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:173397600-173401000	ZNF genes & repeats	Primary B cells from cord blood	blood

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