Variant report

Variant	rs4939131
Chromosome Location	chr11:57051835-57051836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10732882	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10792083	0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10792085	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10896596	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896599	0.87[EUR][1000 genomes]
rs10896601	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10896602	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10896609	0.81[ASN][1000 genomes]
rs11228971	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11228988	0.91[ASN][1000 genomes]
rs11602501	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11604373	0.88[ASN][1000 genomes]
rs17573746	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939496	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155231	0.80[EUR][1000 genomes]
rs2282623	1.00[YRI][hapmap]
rs2511029	0.83[EUR][1000 genomes]
rs2846051	0.84[EUR][1000 genomes]
rs3935069	0.98[ASN][1000 genomes]
rs4939129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939134	0.85[ASN][1000 genomes]
rs5012051	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs522656	0.82[EUR][1000 genomes]
rs55637147	0.82[ASN][1000 genomes]
rs590240	0.83[EUR][1000 genomes]
rs7130020	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746886	1.00[YRI][hapmap]
rs7928905	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7931298	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7936545	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7943761	0.91[ASN][1000 genomes]
rs7943915	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7948723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57045800-57054200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:57046000-57062000	Weak transcription	Right Atrium	heart
3	chr11:57046600-57056000	Weak transcription	Adipose Nuclei	Adipose
4	chr11:57048200-57055200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:57048200-57055600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:57048200-57056400	Weak transcription	Gastric	stomach
7	chr11:57050200-57053800	Enhancers	Placenta	Placenta
8	chr11:57050400-57052200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:57050400-57052400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr11:57050400-57052400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr11:57050400-57052600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:57050600-57052000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:57050600-57052000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:57050600-57052200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:57050800-57052400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:57051000-57052000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:57051000-57052000	Enhancers	Duodenum Mucosa	Duodenum
18	chr11:57051000-57052200	Enhancers	HSMMtube	muscle
19	chr11:57051000-57052400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr11:57051200-57052000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:57051200-57052400	Enhancers	Fetal Intestine Large	intestine
22	chr11:57051400-57052000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:57051400-57052000	Enhancers	Fetal Intestine Small	intestine
24	chr11:57051400-57052800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:57051400-57055000	Weak transcription	HMEC	breast
26	chr11:57051400-57055200	Weak transcription	NHEK	skin
27	chr11:57051400-57055800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:57051400-57056200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:57051600-57052000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:57051600-57052200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:57051600-57052400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:57051600-57054200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:57051600-57055600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:57051600-57055600	Weak transcription	HSMM	muscle
35	chr11:57051600-57056200	Weak transcription	Stomach Mucosa	stomach
36	chr11:57051600-57056600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:57051800-57052200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:57051800-57052200	Weak transcription	Osteobl	bone
39	chr11:57051800-57052400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr11:57051800-57054400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:57051800-57055400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:57051800-57055600	Weak transcription	NHDF-Ad	bronchial
43	chr11:57051800-57055800	Weak transcription	Small Intestine	intestine
44	chr11:57051800-57056200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:57051800-57056400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:57051800-57056400	Weak transcription	Esophagus	oesophagus
47	chr11:57051800-57062000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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