Variant report

Variant	rs12417890
Chromosome Location	chr11:73240764-73240765
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10898921	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235736	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235772	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235783	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235784	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235786	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235787	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235789	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235791	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235792	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235802	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235803	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235807	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235810	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235811	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235816	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417351	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417977	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418558	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420228	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421012	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132126	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244589	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808095	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1939383	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087498	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34493385	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885773	0.81[EUR][1000 genomes]
rs56277844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56375530	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56394842	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs57225667	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60203229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61018857	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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 target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
2	chr11:73219200-73241400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr11:73232600-73249400	Weak transcription	Brain Germinal Matrix	brain
4	chr11:73233000-73241400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:73236600-73244200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:73237800-73244200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:73238000-73241000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr11:73238000-73241000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:73238000-73241600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:73238400-73243600	Weak transcription	Aorta	Aorta
11	chr11:73238600-73244000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:73239000-73245800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:73239400-73241200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:73239600-73240800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr11:73239600-73240800	Enhancers	Right Ventricle	heart
16	chr11:73239600-73242800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:73240000-73240800	Enhancers	Colon Smooth Muscle	Colon
18	chr11:73240000-73240800	Enhancers	Hela-S3	cervix
19	chr11:73240000-73242000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:73240000-73242200	Weak transcription	Fetal Stomach	stomach
21	chr11:73240000-73242200	Weak transcription	Osteobl	bone
22	chr11:73240000-73242600	Weak transcription	Ovary	ovary
23	chr11:73240000-73243800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:73240000-73244000	Enhancers	Brain Angular Gyrus	brain
25	chr11:73240000-73244200	Enhancers	Small Intestine	intestine
26	chr11:73240200-73241000	Enhancers	Stomach Smooth Muscle	stomach
27	chr11:73240200-73241400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:73240200-73241600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:73240200-73241600	Enhancers	Liver	Liver
30	chr11:73240200-73242600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:73240200-73242800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:73240200-73243200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:73240200-73243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:73240200-73243400	Enhancers	Duodenum Mucosa	Duodenum
35	chr11:73240200-73243800	Enhancers	Brain Cingulate Gyrus	brain
36	chr11:73240200-73244400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:73240200-73245000	Weak transcription	Fetal Kidney	kidney
38	chr11:73240200-73249600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:73240200-73252600	Weak transcription	Placenta	Placenta
40	chr11:73240400-73241200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:73240400-73241200	Weak transcription	HepG2	liver
42	chr11:73240400-73241400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:73240400-73241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:73240400-73241400	Weak transcription	Brain Substantia Nigra	brain
45	chr11:73240400-73241400	Weak transcription	Fetal Thymus	thymus
46	chr11:73240400-73241400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:73240400-73241400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:73240400-73241800	Weak transcription	Brain Anterior Caudate	brain
49	chr11:73240400-73242200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:73240400-73242200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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