Variant report

Variant	rs8043334
Chromosome Location	chr15:45895758-45895759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1153829	0.83[YRI][hapmap]
rs1153831	0.83[YRI][hapmap]
rs11632553	0.93[CEU][hapmap]
rs11637984	0.93[CEU][hapmap]
rs16944629	0.80[YRI][hapmap]
rs16945097	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16946621	0.86[CEU][hapmap]
rs17627219	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1966763	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083728	1.00[CEU][hapmap]
rs353099	0.81[CEU][hapmap]
rs55755923	0.91[EUR][1000 genomes]
rs55806911	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55913172	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55997350	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56081351	0.92[EUR][1000 genomes]
rs56179992	0.86[ASN][1000 genomes]
rs56190351	0.92[EUR][1000 genomes]
rs56259807	0.92[EUR][1000 genomes]
rs56304405	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56375332	0.92[EUR][1000 genomes]
rs56395216	0.92[EUR][1000 genomes]
rs57291883	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59593563	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60351453	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60378269	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60992352	0.86[ASN][1000 genomes]
rs61209164	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6493154	0.82[YRI][hapmap]
rs6493157	0.91[YRI][hapmap]
rs68044128	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685812	1.00[CEU][hapmap]
rs7164956	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7165827	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7175288	1.00[CEU][hapmap]
rs7178395	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7178879	0.98[ASN][1000 genomes]
rs7179265	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179903	0.98[ASN][1000 genomes]
rs7181436	1.00[CEU][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711301	0.86[ASN][1000 genomes]
rs72713103	0.86[ASN][1000 genomes]
rs72713104	0.86[ASN][1000 genomes]
rs72713105	0.86[ASN][1000 genomes]
rs72713106	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713107	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713168	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713169	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713171	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713172	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713175	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713178	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72713180	0.81[EUR][1000 genomes]
rs72713182	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713185	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72713191	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72713197	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72713199	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72713201	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715003	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72715005	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72715008	0.91[EUR][1000 genomes]
rs72715010	0.92[EUR][1000 genomes]
rs72715014	0.92[EUR][1000 genomes]
rs72715019	0.92[EUR][1000 genomes]
rs72715020	0.92[EUR][1000 genomes]
rs72715077	0.92[EUR][1000 genomes]
rs8025407	0.86[ASN][1000 genomes]
rs8039784	0.93[CEU][hapmap]
rs8041902	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904188	chr15:45801035-45941689	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv904190	chr15:45892672-45960897	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	27 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45880400-45900400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:45881000-45900200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:45881000-45908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:45881000-45908800	Weak transcription	Esophagus	oesophagus
5	chr15:45881200-45895800	Weak transcription	Spleen	Spleen
6	chr15:45881200-45898000	Weak transcription	Pancreas	Pancrea
7	chr15:45881200-45899800	Weak transcription	Small Intestine	intestine
8	chr15:45881200-45900200	Weak transcription	Colonic Mucosa	Colon
9	chr15:45881200-45900200	Weak transcription	Gastric	stomach
10	chr15:45881200-45909000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:45881400-45898200	Weak transcription	HSMMtube	muscle
12	chr15:45881600-45901800	Weak transcription	Psoas Muscle	Psoas
13	chr15:45881800-45896400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:45881800-45896800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:45881800-45898000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:45881800-45898200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:45881800-45903400	Weak transcription	Brain Substantia Nigra	brain
18	chr15:45881800-45904800	Weak transcription	NHEK	skin
19	chr15:45882000-45908600	Weak transcription	NHLF	lung
20	chr15:45882200-45898200	Weak transcription	HSMM	muscle
21	chr15:45883000-45898600	Weak transcription	NHDF-Ad	bronchial
22	chr15:45883000-45899000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr15:45883400-45898000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:45884000-45896400	Weak transcription	Brain Angular Gyrus	brain
25	chr15:45884000-45898600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr15:45884400-45901200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr15:45884600-45900800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:45884800-45902200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr15:45885000-45899000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:45885000-45902400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:45885200-45896600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:45885200-45898600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:45886000-45897800	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:45886200-45898200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:45886200-45898600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:45886800-45898000	Weak transcription	HUVEC	blood vessel
37	chr15:45886800-45898200	Weak transcription	Osteobl	bone
38	chr15:45887400-45902200	Weak transcription	Fetal Brain Male	brain
39	chr15:45887600-45896200	Weak transcription	NH-A	brain
40	chr15:45887600-45898000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:45887600-45898200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:45887600-45900600	Weak transcription	HMEC	breast
43	chr15:45888600-45898000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:45888600-45898200	Weak transcription	Lung	lung
45	chr15:45888600-45899400	Weak transcription	Right Ventricle	heart
46	chr15:45888800-45896800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:45888800-45904800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr15:45889000-45901000	Weak transcription	Aorta	Aorta
49	chr15:45889000-45903600	Weak transcription	Thymus	Thymus
50	chr15:45889400-45895800	Weak transcription	Brain Hippocampus Middle	brain

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