Variant report

Variant	rs12645871
Chromosome Location	chr4:151614445-151614446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151613809..151616560-chr4:151617047..151618911,2	K562	blood:
2	chr4:151612569..151616883-chr4:151617047..151619015,4	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10003857	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10012460	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10857250	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1148655	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11737590	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1201204	0.81[ASN][1000 genomes]
rs12499833	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12648430	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13126388	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1451634	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17027030	0.94[AFR][1000 genomes]
rs17027155	0.83[EUR][1000 genomes]
rs1782360	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs186080	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1947314	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2198191	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2198192	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2218899	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs294530	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs294532	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs294533	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs294535	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4416458	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696220	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696222	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4696630	0.95[ASN][1000 genomes]
rs4696632	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4696634	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57003564	0.83[EUR][1000 genomes]
rs62346268	0.91[AFR][1000 genomes]
rs62346294	0.94[AFR][1000 genomes]
rs62346297	0.94[AFR][1000 genomes]
rs6535749	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6535750	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6811016	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6817726	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6820819	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6831200	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6836017	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6838286	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6841158	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6851019	0.90[ASN][1000 genomes]
rs6852035	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6854740	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6855472	0.84[EUR][1000 genomes]
rs7655761	0.95[ASN][1000 genomes]
rs7656796	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7663641	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7665652	0.82[AFR][1000 genomes]
rs7671635	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7682370	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7698142	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs971640	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv869051	chr4:151347901-151737781	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024820	chr4:151364078-151943561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1032070	chr4:151514664-151775259	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830113	chr4:151538184-151691942	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1029861	chr4:151556384-151720601	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034948	chr4:151590115-152202687	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv537302	chr4:151590115-152202687	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr4:151487200-151655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:151577600-151637000	Weak transcription	Primary T cells from cord blood	blood
3	chr4:151582200-151642800	Weak transcription	Left Ventricle	heart
4	chr4:151595000-151654800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:151601600-151644400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:151602000-151615800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:151602000-151617000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:151602200-151643800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:151602400-151621800	Weak transcription	Fetal Intestine Large	intestine
10	chr4:151604800-151644600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:151605000-151622800	Weak transcription	Primary B cells from cord blood	blood
12	chr4:151605200-151616400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:151605400-151619400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:151605400-151629000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr4:151605600-151644200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:151606000-151615200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:151606000-151643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:151606200-151615000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:151606200-151616600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:151606400-151615600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:151609000-151615600	Weak transcription	Liver	Liver
22	chr4:151611000-151620200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:151611800-151619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:151612800-151615200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:151612800-151615600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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