Variant report

Variant	rs10840630
Chromosome Location	chr12:122352445-122352446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122344264..122346519-chr12:122351285..122352840,2	K562	blood:

Variant related genes	Relation type
ENSG00000239082	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10840631	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840632	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840633	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840637	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs11043220	1.00[YRI][hapmap]
rs11043223	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs11043225	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11043233	0.96[CEU][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043242	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs11043243	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11043244	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043246	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043251	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043271	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043278	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043280	1.00[ASN][1000 genomes]
rs11043288	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1154514	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612028	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615980	0.90[EUR][1000 genomes]
rs1169070	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1169071	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369331	1.00[ASN][1000 genomes]
rs12809676	1.00[ASN][1000 genomes]
rs12817066	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12822775	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12823194	1.00[ASN][1000 genomes]
rs12824593	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825161	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12827452	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1720033	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720037	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167067	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34159444	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906460	1.00[ASN][1000 genomes]
rs3847694	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs3887885	0.90[EUR][1000 genomes]
rs61954311	0.86[EUR][1000 genomes]
rs66751701	1.00[ASN][1000 genomes]
rs7132055	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137218	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs7309024	0.90[EUR][1000 genomes]
rs7313252	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs73217776	1.00[ASN][1000 genomes]
rs7970565	0.86[EUR][1000 genomes]
rs9739381	1.00[ASN][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122328200-122355600	Weak transcription	Fetal Brain Male	brain
2	chr12:122328400-122355600	Strong transcription	Fetal Stomach	stomach
3	chr12:122329600-122355800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:122329600-122355800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:122329800-122355000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:122330400-122355800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr12:122330600-122353800	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:122331000-122355000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:122331600-122355600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:122332000-122354600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:122332000-122356600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:122332400-122355600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:122332400-122355600	Strong transcription	Fetal Intestine Small	intestine
14	chr12:122332400-122355800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:122332600-122352600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:122332600-122355400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:122332600-122355600	Strong transcription	Fetal Intestine Large	intestine
18	chr12:122332800-122355000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:122332800-122355400	Strong transcription	Liver	Liver
20	chr12:122332800-122355600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr12:122333000-122353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:122333000-122356000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:122336400-122356000	Strong transcription	Adipose Nuclei	Adipose
24	chr12:122338000-122356000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:122340800-122353600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:122341000-122356000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:122341400-122355800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:122341600-122353400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:122341600-122356000	Weak transcription	Fetal Heart	heart
30	chr12:122341600-122356600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:122341800-122355600	Weak transcription	Stomach Mucosa	stomach
32	chr12:122342000-122353400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:122342000-122353400	Weak transcription	HUVEC	blood vessel
34	chr12:122342200-122353400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:122342200-122356000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:122343200-122353800	Weak transcription	Small Intestine	intestine
37	chr12:122344000-122355800	Strong transcription	Brain Germinal Matrix	brain
38	chr12:122344200-122353600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:122344200-122355800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:122344400-122353400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:122344400-122353600	Weak transcription	Brain Substantia Nigra	brain
42	chr12:122344400-122356400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:122344600-122353400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr12:122345400-122353800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:122345400-122356000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:122345600-122355600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:122345600-122355800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr12:122345800-122353800	Strong transcription	Fetal Lung	lung
49	chr12:122346200-122355800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:122346600-122356000	Strong transcription	Stomach Smooth Muscle	stomach

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