Variant report

Variant	rs714696
Chromosome Location	chr15:58962987-58962988
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11071398	0.95[YRI][hapmap]
rs11638244	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs11854073	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12439457	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12899638	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12911832	0.81[ASN][1000 genomes]
rs12912003	0.88[ASN][1000 genomes]
rs12912699	0.90[AFR][1000 genomes]
rs1427281	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1427282	0.80[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1648532	0.90[CHB][hapmap];0.87[YRI][hapmap]
rs17269397	0.83[CHB][hapmap]
rs1834747	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2555356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2657125	1.00[YRI][hapmap]
rs28864995	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs347115	1.00[CHB][hapmap];0.94[YRI][hapmap]
rs347117	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs383902	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs387812	0.94[YRI][hapmap]
rs442495	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs474875	1.00[CHB][hapmap];0.94[YRI][hapmap]
rs4774310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4775086	0.80[AMR][1000 genomes]
rs4775087	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4775094	1.00[CHB][hapmap]
rs507801	1.00[JPT][hapmap]
rs605928	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs610877	1.00[CHB][hapmap];0.94[YRI][hapmap]
rs6494029	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs6494035	0.88[ASN][1000 genomes]
rs6494036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs653765	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs673813	1.00[CHB][hapmap]
rs7161889	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7163162	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7168776	0.81[AFR][1000 genomes]
rs7177678	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7183336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8032140	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs972801	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58905000-58983200	Weak transcription	Esophagus	oesophagus
2	chr15:58905400-58971800	Weak transcription	Spleen	Spleen
3	chr15:58905600-58976400	Weak transcription	Gastric	stomach
4	chr15:58906400-58976400	Weak transcription	Small Intestine	intestine
5	chr15:58921200-58968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr15:58921600-58976600	Weak transcription	Right Ventricle	heart
7	chr15:58921800-58970400	Weak transcription	Stomach Mucosa	stomach
8	chr15:58923400-58971800	Weak transcription	Pancreas	Pancrea
9	chr15:58923400-58982800	Weak transcription	Lung	lung
10	chr15:58933000-58987000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:58934200-58976400	Weak transcription	Psoas Muscle	Psoas
12	chr15:58936000-58977000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:58936200-58991400	Weak transcription	HMEC	breast
14	chr15:58947800-58971800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:58947800-58976400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr15:58949400-58976400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:58951200-58987000	Weak transcription	NHEK	skin
18	chr15:58951600-58976400	Weak transcription	GM12878-XiMat	blood
19	chr15:58951600-58981800	Weak transcription	Fetal Brain Male	brain
20	chr15:58955000-58971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:58955200-58971800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:58955200-58971800	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:58955200-58971800	Weak transcription	Fetal Stomach	stomach
24	chr15:58955200-58971800	Weak transcription	Left Ventricle	heart
25	chr15:58955200-58976400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:58955200-58988400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr15:58955400-58971200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:58955400-58976200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:58955800-58970800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr15:58955800-58972000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:58956400-58967800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:58956600-58967800	Weak transcription	Fetal Kidney	kidney
33	chr15:58956600-58974800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:58956600-58974800	Weak transcription	Adipose Nuclei	Adipose
35	chr15:58956600-58984400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr15:58956600-58984600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:58956600-58987400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:58956800-58974200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr15:58956800-58980000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:58956800-58982000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr15:58957000-58966400	Weak transcription	HepG2	liver
42	chr15:58957000-58972400	Weak transcription	Placenta	Placenta
43	chr15:58957000-58976600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:58957400-58964400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr15:58957400-58966600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr15:58957400-58984400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr15:58957600-58966400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:58957600-58966600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:58957600-58968200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr15:58957600-58989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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