Variant report

Variant	rs2680350
Chromosome Location	chr15:73569722-73569723
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1017809	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1029	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11852881	1.00[CEU][hapmap]
rs11853109	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11856383	0.82[EUR][1000 genomes]
rs11856433	0.82[EUR][1000 genomes]
rs11857053	0.82[EUR][1000 genomes]
rs12101540	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12101734	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13329282	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1382780	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1648248	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1678245	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1714529	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1714530	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1714532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1812363	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1842164	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1895842	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979410	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2169952	0.82[EUR][1000 genomes]
rs2254390	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2254818	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2619259	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2623990	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2623994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2623996	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2624002	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2660823	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2680347	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2680348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2680351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28547177	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28582318	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28676873	0.82[EUR][1000 genomes]
rs28808999	0.82[EUR][1000 genomes]
rs28828370	0.82[EUR][1000 genomes]
rs4238459	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4287530	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4325518	0.82[EUR][1000 genomes]
rs4635304	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4776626	0.82[EUR][1000 genomes]
rs4777584	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs490567	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs492448	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs514632	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs524457	1.00[CEU][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs533460	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs550212	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs576414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495054	0.82[EUR][1000 genomes]
rs7176908	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7180017	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7403367	0.82[EUR][1000 genomes]
rs7497831	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8031718	0.82[EUR][1000 genomes]
rs8035717	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8038411	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs899480	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9920152	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9920459	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9920675	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73520600-73579600	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:73523000-73572200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:73527000-73579400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:73535200-73588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:73536200-73602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:73537600-73572200	Weak transcription	Fetal Heart	heart
7	chr15:73538000-73593400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:73540000-73584800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:73544400-73583000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:73546800-73583000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr15:73546800-73588600	Weak transcription	Spleen	Spleen
12	chr15:73547600-73576600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:73547800-73584600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:73548200-73575000	Weak transcription	Gastric	stomach
15	chr15:73548200-73575200	Weak transcription	Pancreas	Pancrea
16	chr15:73548200-73575600	Weak transcription	Esophagus	oesophagus
17	chr15:73549200-73575200	Weak transcription	Brain Germinal Matrix	brain
18	chr15:73549200-73575200	Weak transcription	Lung	lung
19	chr15:73550800-73581400	Weak transcription	HMEC	breast
20	chr15:73552000-73577800	Weak transcription	Psoas Muscle	Psoas
21	chr15:73552400-73588200	Weak transcription	Hela-S3	cervix
22	chr15:73552800-73598400	Weak transcription	Small Intestine	intestine
23	chr15:73553800-73581200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr15:73555000-73570600	Weak transcription	Liver	Liver
25	chr15:73555200-73575600	Weak transcription	Colonic Mucosa	Colon
26	chr15:73560800-73597200	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr15:73561600-73570400	Weak transcription	Left Ventricle	heart
28	chr15:73562800-73583000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:73563000-73570800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:73563000-73574600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr15:73563200-73570200	Weak transcription	Fetal Kidney	kidney
32	chr15:73563200-73578000	Weak transcription	Aorta	Aorta
33	chr15:73563200-73578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:73563200-73598600	Weak transcription	Stomach Mucosa	stomach
35	chr15:73563400-73570400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:73563400-73574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:73563400-73575000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr15:73563400-73575000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:73563400-73575200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:73563400-73575400	Weak transcription	Adipose Nuclei	Adipose
41	chr15:73563400-73575600	Weak transcription	Right Ventricle	heart
42	chr15:73563400-73581000	Weak transcription	Fetal Brain Male	brain
43	chr15:73563400-73581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:73563400-73585600	Strong transcription	Fetal Intestine Large	intestine
45	chr15:73563600-73570400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:73563600-73574800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:73563600-73578800	Weak transcription	A549	lung
48	chr15:73563600-73593600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr15:73563800-73575000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:73563800-73575600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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