Variant report

Variant	rs1427281
Chromosome Location	chr15:58959273-58959274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58953177..58955880-chr15:58958454..58961862,3	K562	blood:
2	chr15:58958405..58960158-chr15:58960218..58962844,2	MCF-7	breast:
3	chr15:58957306..58961861-chr15:58967060..58970416,4	K562	blood:
4	chr15:58950082..58952311-chr15:58956735..58959470,2	K562	blood:
5	chr15:58949134..58952311-chr15:58956735..58961509,4	K562	blood:
6	chr15:58959008..58961763-chr15:58963675..58966633,2	K562	blood:

Variant related genes	Relation type
ENSG00000270986	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10152558	0.83[CHB][hapmap]
rs11854073	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.80[ASN][1000 genomes]
rs12439457	0.88[ASN][1000 genomes]
rs12911832	0.82[ASN][1000 genomes]
rs12912003	0.90[ASN][1000 genomes]
rs1427282	0.85[GIH][hapmap];0.80[MEX][hapmap]
rs1648532	1.00[CHB][hapmap]
rs17269397	0.83[CHB][hapmap]
rs1834747	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2555356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs28864995	0.87[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.99[ASN][1000 genomes]
rs347115	1.00[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap]
rs347117	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]
rs383902	0.92[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs4275799	0.83[GIH][hapmap]
rs442495	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs474875	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap]
rs4774310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4775086	0.83[GIH][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4775087	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.99[ASN][1000 genomes]
rs4775094	1.00[CHB][hapmap];0.89[GIH][hapmap]
rs507801	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs593742	0.89[GIH][hapmap]
rs605928	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs610877	1.00[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap]
rs6494035	0.90[ASN][1000 genomes]
rs6494036	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6494037	0.81[ASN][1000 genomes]
rs653765	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs673813	1.00[CHB][hapmap]
rs714696	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7161889	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs7163162	0.88[ASN][1000 genomes]
rs7171818	0.81[CHB][hapmap]
rs7177678	0.95[CEU][hapmap];0.87[GIH][hapmap];0.84[MEX][hapmap];0.80[AMR][1000 genomes]
rs7183336	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8043406	0.85[GIH][hapmap];0.84[MEX][hapmap]
rs972801	0.87[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.94[ASN][1000 genomes]

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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv904269	chr15:58906145-58992591	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv569602	chr15:58914326-58964437	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	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
6	nsv518097	chr15:58959273-58964931	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58891400-58959600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:58905000-58983200	Weak transcription	Esophagus	oesophagus
3	chr15:58905400-58971800	Weak transcription	Spleen	Spleen
4	chr15:58905600-58976400	Weak transcription	Gastric	stomach
5	chr15:58906400-58976400	Weak transcription	Small Intestine	intestine
6	chr15:58917000-58959600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:58921200-58959600	Weak transcription	Aorta	Aorta
8	chr15:58921200-58968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr15:58921600-58976600	Weak transcription	Right Ventricle	heart
10	chr15:58921800-58970400	Weak transcription	Stomach Mucosa	stomach
11	chr15:58923400-58971800	Weak transcription	Pancreas	Pancrea
12	chr15:58923400-58982800	Weak transcription	Lung	lung
13	chr15:58924000-58960000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:58933000-58987000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:58934200-58976400	Weak transcription	Psoas Muscle	Psoas
16	chr15:58936000-58977000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:58936200-58991400	Weak transcription	HMEC	breast
18	chr15:58945600-58959400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:58947200-58959600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:58947800-58971800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:58947800-58976400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:58948000-58959400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:58949400-58976400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:58951000-58959600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:58951200-58987000	Weak transcription	NHEK	skin
26	chr15:58951400-58959400	Strong transcription	Fetal Thymus	thymus
27	chr15:58951600-58961400	Weak transcription	Fetal Lung	lung
28	chr15:58951600-58976400	Weak transcription	GM12878-XiMat	blood
29	chr15:58951600-58981800	Weak transcription	Fetal Brain Male	brain
30	chr15:58951800-58960200	Weak transcription	Fetal Heart	heart
31	chr15:58952600-58959400	Weak transcription	HSMMtube	muscle
32	chr15:58952600-58960600	Weak transcription	Fetal Intestine Small	intestine
33	chr15:58955000-58971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:58955200-58971800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:58955200-58971800	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:58955200-58971800	Weak transcription	Fetal Stomach	stomach
37	chr15:58955200-58971800	Weak transcription	Left Ventricle	heart
38	chr15:58955200-58976400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:58955200-58988400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:58955400-58971200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:58955400-58976200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr15:58955800-58970800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr15:58955800-58972000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:58956400-58959400	Weak transcription	Osteobl	bone
45	chr15:58956400-58960800	Weak transcription	Fetal Intestine Large	intestine
46	chr15:58956400-58967800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:58956600-58960000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:58956600-58961400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:58956600-58967800	Weak transcription	Fetal Kidney	kidney
50	chr15:58956600-58974800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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