Variant report

Variant	rs2570805
Chromosome Location	chr15:100127875-100127876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:100126180..100128744-chr15:100133300..100136114,2	K562	blood:
2	chr15:100124558..100126222-chr15:100127468..100129405,2	MCF-7	breast:
3	chr15:100104968..100106924-chr15:100126083..100127916,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11633385	0.87[CHB][hapmap]
rs11636728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2123930	0.87[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2439248	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2570799	0.91[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2570804	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570806	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2570813	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2570817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2570821	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2570822	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2570927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2570930	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2570934	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2581464	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2581465	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2581466	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2581474	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2862871	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2863274	0.94[CHB][hapmap]
rs2863278	0.82[CHB][hapmap]
rs325384	0.85[ASN][1000 genomes]
rs325386	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs325389	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs325393	0.83[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs325396	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs325397	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs325398	0.91[CEU][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs325412	0.85[ASN][1000 genomes]
rs325415	0.86[ASN][1000 genomes]
rs34937961	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35376034	0.86[ASN][1000 genomes]
rs4408523	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56248519	0.86[ASN][1000 genomes]
rs72760522	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72760533	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8029296	0.87[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8034889	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][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	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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
4	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv904558	chr15:100019382-100171684	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv1798883	chr15:100124483-100153969	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100107400-100134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:100107400-100134200	Weak transcription	Pancreas	Pancrea
3	chr15:100108000-100142000	Weak transcription	Thymus	Thymus
4	chr15:100109000-100140200	Weak transcription	Hela-S3	cervix
5	chr15:100109600-100132200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr15:100115000-100138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:100118800-100132200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:100118800-100139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:100120400-100134200	Weak transcription	Aorta	Aorta
10	chr15:100120600-100128400	Weak transcription	Fetal Thymus	thymus
11	chr15:100120600-100132800	Weak transcription	Left Ventricle	heart
12	chr15:100120800-100131200	Weak transcription	Right Ventricle	heart
13	chr15:100120800-100140200	Weak transcription	HSMM	muscle
14	chr15:100120800-100142600	Weak transcription	Ovary	ovary
15	chr15:100121000-100131200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:100122000-100136400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr15:100123000-100131600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:100123200-100136800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:100123800-100131400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:100124000-100128400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:100124400-100129000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:100124400-100129000	Weak transcription	Fetal Heart	heart
23	chr15:100124600-100132200	Weak transcription	NHEK	skin
24	chr15:100124600-100142200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:100125000-100128200	Weak transcription	Fetal Stomach	stomach
26	chr15:100126600-100131200	Weak transcription	Liver	Liver
27	chr15:100126600-100131200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:100126600-100134200	Weak transcription	Brain Angular Gyrus	brain
29	chr15:100126800-100128800	Weak transcription	Dnd41	blood
30	chr15:100126800-100131200	Weak transcription	NHDF-Ad	bronchial
31	chr15:100126800-100132600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:100126800-100136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:100127000-100128200	Weak transcription	Fetal Lung	lung
34	chr15:100127000-100129200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr15:100127000-100129600	Weak transcription	Primary B cells from cord blood	blood
36	chr15:100127000-100130200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:100127000-100132200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:100127000-100132600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:100127000-100139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:100127200-100128200	Weak transcription	Primary B cells from peripheral blood	blood
41	chr15:100127200-100132400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:100127200-100132600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:100127400-100129200	Weak transcription	Primary T cells from cord blood	blood

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