Variant report

Variant	rs2501344
Chromosome Location	chr1:159793915-159793916
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:159785033..159789161-chr1:159789776..159794459,5	K562	blood:
2	chr1:159793598..159795124-chr1:159893329..159895732,2	K562	blood:
3	chr1:159791951..159794341-chr1:159795509..159798284,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158714	Chromatin interaction
ENSG00000158710	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11584071	1.00[EUR][1000 genomes]
rs11585055	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11585210	1.00[EUR][1000 genomes]
rs11585323	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs11586456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11586557	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs11586788	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs11587247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12077947	1.00[EUR][1000 genomes]
rs2494495	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2501343	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs74124721	1.00[EUR][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	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv521503	chr1:159762120-159795478	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159774800-159796000	Weak transcription	Right Atrium	heart
2	chr1:159779600-159794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:159791000-159795800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:159791000-159796600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:159792000-159796000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:159792400-159794200	Enhancers	Esophagus	oesophagus
7	chr1:159792400-159794200	Enhancers	Fetal Intestine Small	intestine
8	chr1:159792400-159796600	Enhancers	Placenta	Placenta
9	chr1:159792600-159794000	Enhancers	Fetal Brain Male	brain
10	chr1:159792600-159794200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:159792800-159794000	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:159793000-159794000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:159793000-159794000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:159793000-159799000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:159793400-159795600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:159793400-159796000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:159793400-159799800	Weak transcription	Lung	lung
18	chr1:159793600-159794000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:159793600-159794600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:159793600-159795200	Weak transcription	Spleen	Spleen
21	chr1:159793600-159797000	Weak transcription	Gastric	stomach
22	chr1:159793800-159795000	Weak transcription	HSMMtube	muscle
23	chr1:159793800-159796800	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:159793800-159798800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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