Variant report

Variant	rs12441313
Chromosome Location	chr15:59015488-59015489
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59006673..59008255-chr15:59014528..59016960,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11071391	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes]
rs11071393	0.94[CEU][hapmap];0.81[AMR][1000 genomes]
rs11071397	0.88[CEU][hapmap];0.94[CHB][hapmap]
rs12437457	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes]
rs12437952	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12437955	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12437998	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12438487	0.83[CEU][hapmap]
rs12439231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12439632	0.87[CEU][hapmap];0.95[CHB][hapmap]
rs12440091	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12440267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12442451	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs12442956	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12591310	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap]
rs12592332	0.94[CEU][hapmap];0.82[AMR][1000 genomes]
rs12594742	0.88[CEU][hapmap]
rs12708455	0.94[CEU][hapmap]
rs12900343	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12901989	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs12905110	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12906705	0.94[CEU][hapmap]
rs12906714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs12907237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs12908165	0.80[CEU][hapmap]
rs12908261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12908449	0.81[AMR][1000 genomes]
rs12912286	0.94[CEU][hapmap]
rs12912327	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12913383	0.83[CEU][hapmap]
rs12917083	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12917500	0.86[AMR][1000 genomes]
rs12917577	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs1426652	0.88[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1551445	0.88[CEU][hapmap];0.89[CHB][hapmap]
rs16940587	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs16940589	0.88[CEU][hapmap]
rs16940647	0.83[CEU][hapmap]
rs16940651	0.88[CEU][hapmap]
rs17236194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17301954	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2052804	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2052805	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2305421	0.94[CEU][hapmap];0.82[AMR][1000 genomes]
rs2414608	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28455654	0.93[CEU][hapmap];0.90[AMR][1000 genomes]
rs28470809	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28489732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28536555	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28549001	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28576281	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28637832	0.82[AMR][1000 genomes]
rs28722857	0.84[AMR][1000 genomes]
rs28724298	0.82[AMR][1000 genomes]
rs28818840	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35499736	0.87[AMR][1000 genomes]
rs35956992	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6074	0.82[CEU][hapmap]
rs6494030	0.88[CEU][hapmap]
rs6494031	0.94[CEU][hapmap]
rs6494032	0.80[AMR][1000 genomes]
rs6494033	0.83[CEU][hapmap]
rs6494034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6494038	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs7163733	0.94[CEU][hapmap]
rs7163939	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7165035	0.83[CEU][hapmap]
rs7165402	0.88[CEU][hapmap]
rs7166076	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs7166325	0.88[CEU][hapmap]
rs7167528	0.94[CEU][hapmap];0.90[AMR][1000 genomes]
rs7169205	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap]
rs7170314	0.83[CEU][hapmap]
rs7174386	0.87[CEU][hapmap]
rs7174414	0.87[CEU][hapmap];0.81[AMR][1000 genomes]
rs8029301	0.94[CHB][hapmap]
rs8029805	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033691	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036005	0.88[CEU][hapmap]
rs8036448	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8039791	0.83[CEU][hapmap]
rs9302203	0.83[CEU][hapmap]
rs9635351	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs9920720	0.83[CEU][hapmap]
rs9921024	0.88[CEU][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58977200-59039200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:58983200-59016600	Weak transcription	Small Intestine	intestine
3	chr15:58986600-59016600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:58989800-59016800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:58990000-59023400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:58992000-59015800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr15:58992000-59023000	Weak transcription	Esophagus	oesophagus
8	chr15:58992000-59023800	Weak transcription	Aorta	Aorta
9	chr15:58992600-59016600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr15:58992600-59021000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:58994400-59016400	Weak transcription	Adipose Nuclei	Adipose
12	chr15:58996000-59016600	Weak transcription	Colonic Mucosa	Colon
13	chr15:58996200-59016800	Weak transcription	Psoas Muscle	Psoas
14	chr15:58996600-59016600	Weak transcription	NHLF	lung
15	chr15:58996600-59016800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:58998400-59016600	Weak transcription	Osteobl	bone
17	chr15:58998600-59016600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr15:58998600-59016800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:58999000-59023800	Weak transcription	Gastric	stomach
20	chr15:59002400-59016200	Weak transcription	Left Ventricle	heart
21	chr15:59003400-59016400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:59003800-59016600	Weak transcription	NH-A	brain
23	chr15:59004200-59015600	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:59005200-59022400	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:59005600-59021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:59005600-59023000	Weak transcription	Spleen	Spleen
27	chr15:59005600-59023600	Weak transcription	NHEK	skin
28	chr15:59005800-59022800	Weak transcription	HMEC	breast
29	chr15:59005800-59025200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:59006200-59023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:59006200-59024000	Weak transcription	Pancreas	Pancrea
32	chr15:59006400-59016200	Weak transcription	Lung	lung
33	chr15:59006400-59016600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:59006400-59016800	Weak transcription	HSMMtube	muscle
35	chr15:59006400-59017000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:59006400-59017000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:59006400-59021600	Weak transcription	Fetal Stomach	stomach
38	chr15:59006400-59022800	Weak transcription	Fetal Intestine Small	intestine
39	chr15:59007400-59026400	Weak transcription	Fetal Intestine Large	intestine
40	chr15:59008200-59016200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:59008600-59028400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:59009400-59016600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:59009600-59016800	Weak transcription	Stomach Mucosa	stomach
44	chr15:59009600-59029600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr15:59009800-59016400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr15:59009800-59016600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:59009800-59016600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr15:59009800-59016600	Weak transcription	Placenta	Placenta
49	chr15:59009800-59016800	Weak transcription	Fetal Kidney	kidney
50	chr15:59009800-59018000	Weak transcription	Liver	Liver

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