Variant report

Variant	rs28417785
Chromosome Location	chr15:78330014-78330015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78324962..78326777-chr15:78328172..78330506,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10519182	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11629761	0.83[AFR][1000 genomes]
rs11639164	0.91[AFR][1000 genomes]
rs11854491	0.87[AMR][1000 genomes]
rs12102130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969447	0.86[AFR][1000 genomes]
rs1985487	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28394000	0.91[AFR][1000 genomes]
rs28441175	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28470811	0.87[AMR][1000 genomes]
rs28485414	0.83[AFR][1000 genomes]
rs28491609	0.88[AFR][1000 genomes]
rs28491820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28519575	0.91[AFR][1000 genomes]
rs28526757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28579273	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28581571	0.93[AFR][1000 genomes]
rs28590577	0.86[AFR][1000 genomes]
rs28591625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28647720	0.93[AFR][1000 genomes]
rs28674965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58247186	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7167778	0.87[AMR][1000 genomes]
rs74027705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74029754	0.87[AMR][1000 genomes]
rs7495639	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9920647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1051558	chr15:78315542-78364947	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:78301400-78342200	Weak transcription	HMEC	breast
3	chr15:78303200-78342400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:78307200-78342000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:78309200-78330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:78309200-78330800	Weak transcription	A549	lung
7	chr15:78309200-78354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:78316000-78332400	Weak transcription	Hela-S3	cervix
9	chr15:78317000-78344400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:78317400-78342600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:78317800-78331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:78317800-78344400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:78317800-78344400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:78320200-78334400	Weak transcription	Aorta	Aorta
15	chr15:78320400-78331800	Weak transcription	Esophagus	oesophagus
16	chr15:78321200-78343800	Weak transcription	NHEK	skin
17	chr15:78322200-78336600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:78322200-78341000	Weak transcription	Brain Germinal Matrix	brain
19	chr15:78322400-78336600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:78324000-78332200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr15:78324400-78330400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:78324600-78334400	Weak transcription	Ovary	ovary
23	chr15:78325600-78337800	Genic enhancers	Fetal Thymus	thymus
24	chr15:78325800-78333600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr15:78326000-78331600	Enhancers	HUVEC	blood vessel
26	chr15:78326200-78332000	Genic enhancers	Fetal Intestine Small	intestine
27	chr15:78326200-78332800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:78326400-78331600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr15:78326400-78332000	Genic enhancers	Fetal Muscle Leg	muscle
30	chr15:78326600-78331200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:78326600-78331200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:78326600-78331400	Enhancers	Spleen	Spleen
33	chr15:78326600-78332000	Genic enhancers	Placenta	Placenta
34	chr15:78326600-78332000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
35	chr15:78327200-78330400	Enhancers	Brain Anterior Caudate	brain
36	chr15:78327400-78330200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr15:78327400-78330400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:78327400-78330800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:78327400-78339600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:78327600-78330400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:78327600-78331000	Enhancers	Thymus	Thymus
42	chr15:78327600-78331600	Genic enhancers	Rectal Mucosa Donor 29	rectum
43	chr15:78327600-78332000	Enhancers	Primary hematopoietic stem cells	blood
44	chr15:78327600-78333600	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr15:78327600-78351400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr15:78327800-78342000	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr15:78328000-78330200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr15:78328000-78330200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr15:78328000-78332200	Enhancers	Small Intestine	intestine
50	chr15:78328000-78334600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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