Variant report

Variant	rs12910580
Chromosome Location	chr15:59272053-59272054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59271260..59274887-chr15:59397313..59399336,3	K562	blood:
2	chr15:59245090..59247424-chr15:59270731..59272689,2	MCF-7	breast:
3	chr15:59270453..59272806-chr15:59287808..59289576,2	K562	blood:
4	chr15:59271482..59274101-chr15:59428986..59430660,2	MCF-7	breast:
5	chr15:59270904..59273461-chr15:59278790..59281623,2	MCF-7	breast:
6	chr15:59264832..59268316-chr15:59270514..59274227,3	K562	blood:
7	chr15:59271834..59273496-chr15:59277776..59280062,2	K562	blood:

Variant related genes	Relation type
ENSG00000157456	Chromatin interaction
ENSG00000157450	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10518991	0.90[CEU][hapmap];0.83[GIH][hapmap]
rs10518992	0.90[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap]
rs11071401	0.89[CEU][hapmap]
rs11630160	0.90[CEU][hapmap];0.84[TSI][hapmap]
rs11631540	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11636723	0.90[CEU][hapmap]
rs11637077	0.90[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap]
rs11856640	0.90[CEU][hapmap]
rs11858989	0.90[CEU][hapmap];0.84[GIH][hapmap];0.84[TSI][hapmap]
rs12595482	0.85[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap]
rs12914723	0.90[CEU][hapmap]
rs1446240	0.95[CEU][hapmap]
rs17302045	0.90[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap]
rs173214	0.90[CEU][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap]
rs28641638	0.90[CEU][hapmap];0.84[TSI][hapmap]
rs34629633	0.83[AFR][1000 genomes]
rs431414	0.83[CEU][hapmap]
rs677933	0.84[CEU][hapmap]
rs8026474	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8035628	0.84[GIH][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr15:59265600-59279200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:59266000-59274400	Enhancers	Primary B cells from peripheral blood	blood
3	chr15:59268000-59273800	Weak transcription	Adipose Nuclei	Adipose
4	chr15:59268400-59272400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:59268600-59273000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:59268600-59274000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr15:59268600-59279000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:59268800-59272800	Weak transcription	Primary T cells from cord blood	blood
9	chr15:59268800-59272800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:59268800-59273000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr15:59268800-59273000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr15:59268800-59273000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:59268800-59273000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr15:59268800-59273200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:59269000-59272800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:59269000-59272800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:59269000-59273000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:59269000-59273400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr15:59269600-59274400	Enhancers	Primary B cells from cord blood	blood
20	chr15:59270000-59274000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:59271400-59274200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:59271600-59272200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:59271600-59272200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:59271600-59272400	Enhancers	NHEK	skin
25	chr15:59271600-59272600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr15:59271600-59272600	Enhancers	Osteobl	bone
27	chr15:59271600-59273400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:59271800-59272200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:59271800-59272400	Enhancers	Fetal Stomach	stomach
30	chr15:59271800-59272400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr15:59271800-59272600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr15:59271800-59272800	Enhancers	NHDF-Ad	bronchial
33	chr15:59271800-59273200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr15:59271800-59273600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr15:59271800-59273600	Enhancers	Duodenum Mucosa	Duodenum
36	chr15:59272000-59272200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr15:59272000-59272200	Active TSS	GM12878-XiMat	blood
38	chr15:59272000-59272400	Active TSS	Esophagus	oesophagus
39	chr15:59272000-59272400	Enhancers	HSMM	muscle
40	chr15:59272000-59272600	Enhancers	Colon Smooth Muscle	Colon
41	chr15:59272000-59272600	Enhancers	Rectal Smooth Muscle	rectum
42	chr15:59272000-59273000	Weak transcription	NHLF	lung
43	chr15:59272000-59273800	Enhancers	Monocytes-CD14+_RO01746	blood

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