Variant report

Variant	rs12912071
Chromosome Location	chr15:59443150-59443151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10431791	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs10518996	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10851643	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11635820	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11852461	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12438111	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs12438208	0.87[CHB][hapmap]
rs12440692	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12906212	0.87[CHB][hapmap]
rs12913177	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs1345116	0.86[CHB][hapmap]
rs1374155	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1446237	0.82[CHB][hapmap]
rs1446239	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1665049	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs1665050	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs1665051	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs1693532	0.82[CHB][hapmap]
rs17236369	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs17236383	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1867757	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2084161	0.90[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2121236	0.82[CHB][hapmap]
rs2414619	0.82[ASN][1000 genomes]
rs4218	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs4531679	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4774320	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4774321	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4775110	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs4775111	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6494054	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs6494064	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs6494065	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs6494069	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs7173135	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7174277	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7175490	0.82[CHB][hapmap]
rs7178935	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs8028752	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs8028764	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs8030246	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs8037569	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs8040456	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs8041221	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs8042516	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs9302206	0.86[CHB][hapmap];0.86[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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59397800-59450000	Weak transcription	Small Intestine	intestine
2	chr15:59398000-59462000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:59421400-59453400	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:59422200-59451200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:59422600-59447600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr15:59422600-59451000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr15:59424400-59461400	Strong transcription	Hela-S3	cervix
8	chr15:59425200-59455200	Strong transcription	Fetal Intestine Small	intestine
9	chr15:59425400-59455200	Strong transcription	Fetal Intestine Large	intestine
10	chr15:59425800-59459600	Strong transcription	Liver	Liver
11	chr15:59426200-59451000	Weak transcription	Psoas Muscle	Psoas
12	chr15:59427000-59449200	Weak transcription	Brain Angular Gyrus	brain
13	chr15:59428000-59443200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:59428000-59444800	Weak transcription	Fetal Heart	heart
15	chr15:59428200-59451600	Weak transcription	Fetal Lung	lung
16	chr15:59431800-59467200	Weak transcription	Fetal Brain Female	brain
17	chr15:59432000-59465600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:59432600-59457400	Strong transcription	Placenta	Placenta
19	chr15:59432800-59444600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:59433400-59444800	Weak transcription	Stomach Mucosa	stomach
21	chr15:59433400-59456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:59433600-59444400	Weak transcription	Fetal Kidney	kidney
23	chr15:59434000-59447800	Strong transcription	NHEK	skin
24	chr15:59434000-59457600	Strong transcription	GM12878-XiMat	blood
25	chr15:59434200-59444600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:59434200-59467000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr15:59434400-59448800	Strong transcription	Lung	lung
28	chr15:59434400-59455600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:59434600-59455400	Strong transcription	Adipose Nuclei	Adipose
30	chr15:59434600-59455600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr15:59434600-59455800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr15:59434800-59444400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr15:59436000-59473000	Weak transcription	Brain Germinal Matrix	brain
34	chr15:59436200-59444400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:59436200-59444600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr15:59436200-59444600	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:59436200-59446200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:59436200-59456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:59436400-59444400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:59436400-59451000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:59437800-59484400	Weak transcription	Fetal Brain Male	brain
42	chr15:59438000-59447200	Strong transcription	Colonic Mucosa	Colon
43	chr15:59438000-59447800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:59438000-59451400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:59438000-59458400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr15:59438400-59447600	Weak transcription	Fetal Thymus	thymus
47	chr15:59440800-59444000	Strong transcription	NHDF-Ad	bronchial
48	chr15:59440800-59446400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:59441000-59444400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:59441000-59455400	Strong transcription	Muscle Satellite Cultured Cells	--

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