Variant report

Variant	rs7117590
Chromosome Location	chr11:47005633-47005634
allele	A/G
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:32)

rs_ID	r²[population]
rs10838638	0.80[AMR][1000 genomes]
rs11039048	0.80[AMR][1000 genomes]
rs11488791	0.89[AMR][1000 genomes]
rs12224831	0.80[AMR][1000 genomes]
rs12273333	0.81[YRI][hapmap];0.89[AMR][1000 genomes]
rs12274845	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12280455	0.83[ASW][hapmap];0.82[LWK][hapmap];0.87[MKK][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12288724	1.00[MEX][hapmap]
rs12290283	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs12291377	0.84[AMR][1000 genomes]
rs2035067	0.80[AMR][1000 genomes]
rs4752814	0.82[ASW][hapmap];0.80[AMR][1000 genomes]
rs57683872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59520560	0.89[AMR][1000 genomes]
rs60741480	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6485713	0.87[MKK][hapmap];0.89[AMR][1000 genomes]
rs6485718	0.83[ASW][hapmap];0.87[MKK][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7112945	0.82[ASW][hapmap]
rs7117243	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7123059	0.89[AMR][1000 genomes]
rs7125807	0.82[YRI][hapmap]
rs7130989	0.82[ASW][hapmap];0.86[YRI][hapmap]
rs73460086	0.82[AMR][1000 genomes]
rs73462027	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs752849	0.88[ASW][hapmap];0.89[YRI][hapmap]
rs7930293	0.82[AMR][1000 genomes]
rs7935192	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7940468	0.89[AMR][1000 genomes]
rs7944021	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7945052	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9804415	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9971621	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46971600-47006600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:46974200-47008400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:46980600-47014000	Weak transcription	Aorta	Aorta
4	chr11:46980600-47021000	Weak transcription	Ovary	ovary
5	chr11:46980600-47026000	Weak transcription	HSMM	muscle
6	chr11:46981200-47023400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:46983000-47024000	Weak transcription	Primary B cells from cord blood	blood
8	chr11:46989200-47026000	Weak transcription	Dnd41	blood
9	chr11:46994000-47026000	Weak transcription	Colonic Mucosa	Colon
10	chr11:46994200-47021000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:46994400-47014800	Weak transcription	Esophagus	oesophagus
12	chr11:46996000-47006600	Weak transcription	Fetal Intestine Small	intestine
13	chr11:46996000-47011400	Weak transcription	Pancreas	Pancrea
14	chr11:46996000-47025800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:46998800-47023200	Weak transcription	Fetal Brain Male	brain
16	chr11:46999000-47010600	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:46999000-47019400	Weak transcription	Fetal Stomach	stomach
18	chr11:46999200-47010000	Weak transcription	Fetal Brain Female	brain
19	chr11:46999600-47011000	Weak transcription	Fetal Lung	lung
20	chr11:46999600-47013000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:46999600-47023600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:47000000-47008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:47000000-47008400	Weak transcription	Brain Germinal Matrix	brain
24	chr11:47000000-47008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:47000000-47010800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:47000000-47011200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:47000000-47012800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:47000000-47024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:47000200-47008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:47000200-47025200	Weak transcription	NH-A	brain
31	chr11:47000200-47026400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:47000400-47006200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:47000400-47012000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:47000400-47012600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:47000400-47012800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:47000400-47023400	Weak transcription	Osteobl	bone
37	chr11:47000400-47024600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:47000400-47026600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:47000600-47012600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr11:47000800-47006600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:47000800-47008400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:47000800-47010800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:47001000-47008400	Weak transcription	Hela-S3	cervix
44	chr11:47001000-47013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:47001800-47009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:47002000-47012600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:47002000-47017600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:47002200-47005800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:47002200-47008800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:47002200-47010000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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