Variant report

Variant	rs9920114
Chromosome Location	chr15:55543895-55543896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55542658..55546534-chr15:55547557..55552018,8	K562	blood:
2	chr15:55542912..55546349-chr15:55547649..55552018,4	K562	blood:
3	chr15:55536038..55538706-chr15:55541637..55544470,3	K562	blood:
4	chr15:55536038..55538985-chr15:55542222..55544123,2	K562	blood:
5	chr15:55538333..55540219-chr15:55542009..55544600,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11634479	0.89[ASN][1000 genomes]
rs12910930	0.82[CHD][hapmap];0.81[GIH][hapmap];0.80[ASN][1000 genomes]
rs16976194	0.83[GIH][hapmap]
rs17819042	0.84[JPT][hapmap]
rs2444039	1.00[CEU][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2444043	0.85[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs3784547	0.82[AMR][1000 genomes]
rs3985771	0.85[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs4774756	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs517707	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs521544	0.83[ASN][1000 genomes]
rs526213	0.83[ASN][1000 genomes]
rs540476	0.85[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs549774	0.83[ASN][1000 genomes]
rs562794	0.83[ASN][1000 genomes]
rs62018087	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9920645	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv1049977	chr15:55502508-55555694	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036924	chr15:55527874-55616480	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv569522	chr15:55532211-55611126	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv904241	chr15:55534342-55611126	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55490000-55562800	Weak transcription	Ovary	ovary
2	chr15:55514200-55545200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:55514800-55560400	Weak transcription	Spleen	Spleen
4	chr15:55516000-55559600	Weak transcription	Fetal Stomach	stomach
5	chr15:55520800-55574800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr15:55522800-55547000	Weak transcription	GM12878-XiMat	blood
7	chr15:55527000-55544200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:55534400-55545600	Weak transcription	Osteobl	bone
9	chr15:55538600-55544200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:55538600-55549000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:55538800-55544600	Genic enhancers	K562	blood
12	chr15:55539000-55544600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr15:55539400-55544600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr15:55539600-55544400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:55539800-55545000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr15:55540000-55544400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:55540600-55545000	Enhancers	Liver	Liver
18	chr15:55540600-55561200	Weak transcription	Esophagus	oesophagus
19	chr15:55541000-55544200	Enhancers	Placenta	Placenta
20	chr15:55541200-55549000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:55541400-55544800	Enhancers	Stomach Mucosa	stomach
22	chr15:55541400-55547200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:55541600-55544200	Enhancers	Primary hematopoietic stem cells	blood
24	chr15:55541600-55544800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr15:55541600-55545600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:55541600-55545800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr15:55541800-55544200	Enhancers	Primary B cells from cord blood	blood
28	chr15:55541800-55544600	Enhancers	Primary T cells from cord blood	blood
29	chr15:55541800-55547800	Weak transcription	Left Ventricle	heart
30	chr15:55542000-55544200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr15:55542000-55545800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:55542200-55544400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:55542200-55544600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr15:55542400-55544000	Weak transcription	Lung	lung
35	chr15:55542400-55544400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:55542400-55545200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:55542400-55547200	Weak transcription	Aorta	Aorta
38	chr15:55542400-55581000	Weak transcription	Fetal Intestine Small	intestine
39	chr15:55542600-55544600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:55542800-55544400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr15:55542800-55544400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:55543200-55544200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:55543200-55544800	Enhancers	Gastric	stomach
44	chr15:55543200-55544800	Enhancers	Pancreas	Pancrea
45	chr15:55543200-55545400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:55543200-55545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:55543400-55545000	Weak transcription	Adipose Nuclei	Adipose
48	chr15:55543400-55545000	Weak transcription	HMEC	breast
49	chr15:55543400-55545600	Weak transcription	HepG2	liver
50	chr15:55543400-55545600	Weak transcription	NHDF-Ad	bronchial

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