Variant report

Variant	rs1062905
Chromosome Location	chr12:46317004-46317005
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10161306	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10880867	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10880873	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880874	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880883	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11183192	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs11183208	0.94[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap]
rs11183210	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs11183211	0.82[CEU][hapmap]
rs11183217	0.94[CEU][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.82[EUR][1000 genomes]
rs11183219	0.82[CEU][hapmap]
rs11183223	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183226	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183228	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183229	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11183234	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183251	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183272	0.86[JPT][hapmap]
rs11183273	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11183275	0.82[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs11574964	0.90[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs12318248	0.99[ASN][1000 genomes]
rs1366024	0.82[JPT][hapmap]
rs1427750	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17096308	0.91[ASN][1000 genomes]
rs17096361	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1896539	0.94[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2408437	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs4144983	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4768098	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4768099	0.90[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs4768100	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768667	0.83[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4768670	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768672	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4768673	0.92[ASN][1000 genomes]
rs4768674	0.83[ASN][1000 genomes]
rs4768675	0.83[ASN][1000 genomes]
rs56146240	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56176440	0.81[EUR][1000 genomes]
rs61924070	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67136007	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs735351	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	esv2758306	chr12:46149338-46349891	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759897	chr12:46149338-46349891	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46245400-46318600	Weak transcription	Small Intestine	intestine
2	chr12:46269000-46319200	Weak transcription	Spleen	Spleen
3	chr12:46281400-46328800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:46286000-46321200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:46286200-46318000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:46287200-46322000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:46290200-46320400	Weak transcription	Fetal Brain Male	brain
8	chr12:46290200-46320600	Weak transcription	Psoas Muscle	Psoas
9	chr12:46290200-46322200	Weak transcription	Esophagus	oesophagus
10	chr12:46290400-46318000	Weak transcription	Brain Anterior Caudate	brain
11	chr12:46290400-46325800	Weak transcription	Aorta	Aorta
12	chr12:46290600-46318000	Weak transcription	Ovary	ovary
13	chr12:46291400-46320600	Weak transcription	Fetal Brain Female	brain
14	chr12:46291400-46321600	Weak transcription	Colonic Mucosa	Colon
15	chr12:46299000-46320200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:46299000-46381000	Weak transcription	Brain Germinal Matrix	brain
17	chr12:46302000-46318000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:46305200-46321600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:46307000-46320400	Weak transcription	Fetal Heart	heart
20	chr12:46307000-46322200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:46308000-46322000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:46309400-46317800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:46309400-46327400	Strong transcription	HSMM	muscle
24	chr12:46310200-46322600	Strong transcription	HSMMtube	muscle
25	chr12:46310400-46327200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:46310600-46327600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:46311000-46329000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:46311000-46329000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:46311200-46319000	Strong transcription	Left Ventricle	heart
30	chr12:46311200-46325200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:46311200-46328200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:46311200-46328600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:46311400-46322000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:46311400-46327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:46311400-46329000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:46311400-46329000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:46312000-46327800	Strong transcription	Osteobl	bone
38	chr12:46312000-46328800	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr12:46312000-46329800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr12:46312000-46330000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:46312000-46330000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:46312200-46348600	Strong transcription	Dnd41	blood
43	chr12:46312400-46318400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:46312400-46322800	Strong transcription	Primary B cells from cord blood	blood
45	chr12:46312400-46327400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr12:46312400-46327800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:46312400-46328200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:46312400-46329200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:46312600-46327000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:46312600-46327800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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