Variant report

Variant	rs12593843
Chromosome Location	chr15:57447374-57447375
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57431669..57434658-chr15:57445246..57447900,2	K562	blood:
2	chr15:57445851..57448628-chr15:57452801..57454618,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1015967	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs10438332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs11071302	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11071307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11071310	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs11632502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs11632526	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs11636655	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11856338	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12324235	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs12591367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs12595074	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs1346880	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs1625176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1631079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs1642927	1.00[CEU][hapmap]
rs1642929	1.00[CEU][hapmap]
rs1642936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs1642940	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1652732	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1652738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1652739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1652740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1652741	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs17239222	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17239459	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17819940	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17820018	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes]
rs17820095	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1820996	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1867638	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1870870	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2126402	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2169468	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2248534	0.81[AFR][1000 genomes]
rs2248620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2252289	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2290939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2431032	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2435905	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2440972	0.93[AFR][1000 genomes]
rs2464427	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2464428	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2470080	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2470081	0.95[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2470083	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2470084	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2470085	1.00[YRI][hapmap]
rs2566844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2566856	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs2585076	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs2585116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2591062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2591066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2593217	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs2593221	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2593223	0.90[EUR][1000 genomes]
rs2593233	0.83[EUR][1000 genomes]
rs2593234	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2593236	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2615228	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2703588	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2703599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2703600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes]
rs2733187	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2733304	0.86[EUR][1000 genomes]
rs2733309	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2733318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2733320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2733330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2920270	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2920272	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2921430	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2951900	0.95[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2951902	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2957573	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2957576	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2957578	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2957592	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2962988	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs2962994	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2962995	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3794617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56151428	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6493909	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7165729	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7167268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes]
rs7168945	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs7180513	0.90[EUR][1000 genomes]
rs7182038	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7182188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs7183392	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs72731924	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72731934	0.91[EUR][1000 genomes]
rs72731958	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72731960	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72731964	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72731970	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72731974	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72731986	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs734033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7359192	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs8023315	1.00[YRI][hapmap]
rs8024830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs8029445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs8035097	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8037987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8042190	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs8042322	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8043103	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9806712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]

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	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57439000-57463400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:57439400-57456000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:57440800-57450400	Weak transcription	Aorta	Aorta
5	chr15:57441200-57448600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:57441200-57450800	Weak transcription	Esophagus	oesophagus
7	chr15:57441600-57447600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr15:57442400-57448000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:57442400-57450400	Weak transcription	Ovary	ovary
10	chr15:57442600-57450600	Weak transcription	Gastric	stomach
11	chr15:57442800-57447800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:57442800-57448200	Weak transcription	Brain Substantia Nigra	brain
13	chr15:57443200-57447800	Weak transcription	Fetal Brain Male	brain
14	chr15:57444200-57456600	Strong transcription	Fetal Thymus	thymus
15	chr15:57444400-57448600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:57444400-57449800	Weak transcription	Left Ventricle	heart
17	chr15:57444400-57450400	Weak transcription	Thymus	Thymus
18	chr15:57444400-57450800	Weak transcription	Fetal Stomach	stomach
19	chr15:57444400-57459000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:57444400-57459200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:57444400-57485600	Weak transcription	Placenta	Placenta
22	chr15:57444400-57507400	Weak transcription	K562	blood
23	chr15:57444600-57447600	Weak transcription	Psoas Muscle	Psoas
24	chr15:57444600-57448600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:57444600-57448600	Weak transcription	NHDF-Ad	bronchial
26	chr15:57444600-57450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:57444600-57450600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:57444600-57450600	Weak transcription	NH-A	brain
29	chr15:57444600-57451400	Weak transcription	Fetal Intestine Small	intestine
30	chr15:57444600-57452800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:57444600-57455600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:57444600-57458000	Weak transcription	Dnd41	blood
33	chr15:57444600-57458400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:57444600-57459000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr15:57444600-57459600	Weak transcription	Liver	Liver
36	chr15:57444600-57490200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr15:57444800-57447400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:57444800-57447400	Weak transcription	HSMMtube	muscle
39	chr15:57444800-57450400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:57444800-57458600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr15:57444800-57458800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:57444800-57458800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr15:57444800-57484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:57444800-57484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:57445000-57447400	Weak transcription	Fetal Kidney	kidney
46	chr15:57445000-57450800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:57445000-57455600	Weak transcription	Primary T cells from cord blood	blood
48	chr15:57445000-57461600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr15:57445200-57447800	Weak transcription	Brain Hippocampus Middle	brain
50	chr15:57445200-57450600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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