Variant report

Variant	rs12917500
Chromosome Location	chr15:58949676-58949677
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58949134..58952311-chr15:58956735..58961509,4	K562	blood:
2	chr15:58938038..58940430-chr15:58949050..58951838,2	K562	blood:
3	chr15:58941689..58944037-chr15:58949556..58952654,3	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs11071391	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11071392	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11071393	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12437457	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12437998	0.83[AMR][1000 genomes]
rs12438487	0.81[EUR][1000 genomes]
rs12438810	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12440246	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12440267	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12441313	0.86[AMR][1000 genomes]
rs12441912	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12442451	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12591291	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12591543	0.88[EUR][1000 genomes]
rs12592332	0.86[EUR][1000 genomes]
rs12592750	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12708455	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12901989	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12905173	0.81[EUR][1000 genomes]
rs12906705	0.86[EUR][1000 genomes]
rs12906714	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12907237	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12908261	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12908449	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12912286	0.84[EUR][1000 genomes]
rs12912327	0.83[AMR][1000 genomes]
rs12915950	0.86[EUR][1000 genomes]
rs12916010	0.86[EUR][1000 genomes]
rs12917577	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16940587	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16940589	0.85[EUR][1000 genomes]
rs16940647	0.85[EUR][1000 genomes]
rs16940651	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17236194	0.83[AMR][1000 genomes]
rs17301905	0.87[EUR][1000 genomes]
rs17301954	0.88[AMR][1000 genomes]
rs1820548	0.85[EUR][1000 genomes]
rs2052805	0.81[AMR][1000 genomes]
rs2303532	0.82[EUR][1000 genomes]
rs2305421	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28417700	0.85[EUR][1000 genomes]
rs28455654	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28457680	0.82[EUR][1000 genomes]
rs28489732	0.86[AMR][1000 genomes]
rs28542491	0.87[EUR][1000 genomes]
rs28573205	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28584993	0.82[EUR][1000 genomes]
rs28600144	0.86[EUR][1000 genomes]
rs28609304	0.87[EUR][1000 genomes]
rs28637832	0.83[EUR][1000 genomes]
rs28639679	0.84[EUR][1000 genomes]
rs28678478	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28722857	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28724298	0.86[EUR][1000 genomes]
rs28818840	0.88[AMR][1000 genomes]
rs28852159	0.82[EUR][1000 genomes]
rs34793995	0.85[EUR][1000 genomes]
rs35499736	0.88[EUR][1000 genomes]
rs35956992	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6494030	0.87[EUR][1000 genomes]
rs6494031	0.84[EUR][1000 genomes]
rs6494032	0.86[EUR][1000 genomes]
rs7163733	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7163939	0.80[ASN][1000 genomes]
rs7164620	0.85[EUR][1000 genomes]
rs7165035	0.85[EUR][1000 genomes]
rs7165402	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7166076	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7166325	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7167528	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7174175	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7174386	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7174414	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7178954	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7180550	0.86[EUR][1000 genomes]
rs8026668	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8029805	0.81[AMR][1000 genomes]
rs8033565	0.81[EUR][1000 genomes]
rs8033691	0.81[AMR][1000 genomes]
rs8035960	0.86[EUR][1000 genomes]
rs8036005	0.87[EUR][1000 genomes]
rs8039791	0.87[EUR][1000 genomes]
rs8040358	0.84[EUR][1000 genomes]
rs9302203	0.87[EUR][1000 genomes]
rs9635351	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9744518	0.88[EUR][1000 genomes]
rs9920042	0.85[EUR][1000 genomes]
rs9920310	0.84[EUR][1000 genomes]
rs9920720	0.87[EUR][1000 genomes]
rs9921024	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:119 , 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	chr15:58907800-58952000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:58911600-58951200	Weak transcription	Fetal Brain Male	brain
8	chr15:58911600-58958000	Weak transcription	Fetal Brain Female	brain
9	chr15:58914200-58957600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:58914600-58957000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:58917000-58959600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:58919800-58959200	Weak transcription	Brain Germinal Matrix	brain
13	chr15:58920200-58957200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:58921000-58957600	Weak transcription	Colonic Mucosa	Colon
15	chr15:58921200-58959600	Weak transcription	Aorta	Aorta
16	chr15:58921200-58968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:58921600-58959200	Weak transcription	NHLF	lung
18	chr15:58921600-58976600	Weak transcription	Right Ventricle	heart
19	chr15:58921800-58970400	Weak transcription	Stomach Mucosa	stomach
20	chr15:58922200-58959000	Weak transcription	HUVEC	blood vessel
21	chr15:58923400-58971800	Weak transcription	Pancreas	Pancrea
22	chr15:58923400-58982800	Weak transcription	Lung	lung
23	chr15:58924000-58960000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:58926400-58957600	Weak transcription	Brain Substantia Nigra	brain
25	chr15:58927000-58956600	Weak transcription	Ovary	ovary
26	chr15:58933000-58987000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:58933200-58952400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:58933400-58949800	Weak transcription	Hela-S3	cervix
29	chr15:58933400-58954800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:58933400-58955600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:58933400-58956000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:58933600-58959000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:58934200-58954800	Weak transcription	Osteobl	bone
34	chr15:58934200-58957600	Weak transcription	Brain Angular Gyrus	brain
35	chr15:58934200-58957800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:58934200-58958200	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:58934200-58976400	Weak transcription	Psoas Muscle	Psoas
38	chr15:58935000-58949800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:58936000-58977000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:58936200-58949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr15:58936200-58949800	Weak transcription	NHEK	skin
42	chr15:58936200-58952800	Weak transcription	NHDF-Ad	bronchial
43	chr15:58936200-58953000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:58936200-58954200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr15:58936200-58991400	Weak transcription	HMEC	breast
46	chr15:58936800-58951000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:58937800-58949800	Weak transcription	GM12878-XiMat	blood
48	chr15:58941200-58949800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:58942800-58951000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr15:58942800-58956000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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