Variant report

Variant	rs7130923
Chromosome Location	chr11:9934355-9934356
allele	C/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:41)

rs_ID	r²[population]
rs10770070	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs10770072	0.93[CHB][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10770073	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs10770074	0.92[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840320	0.86[AFR][1000 genomes]
rs10840321	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs11042527	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs11042541	1.00[CHB][hapmap]
rs11042549	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs12360818	0.86[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs12365540	0.91[ASN][1000 genomes]
rs12796169	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4334006	0.94[ASN][1000 genomes]
rs4466826	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4498988	0.92[JPT][hapmap]
rs4616018	0.92[JPT][hapmap]
rs4910074	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs4910076	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4910082	0.82[CEU][hapmap];0.92[JPT][hapmap]
rs4910083	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs6483805	0.81[YRI][hapmap];0.85[AFR][1000 genomes]
rs6483809	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6483811	0.91[ASN][1000 genomes]
rs7102482	0.91[JPT][hapmap]
rs7105337	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7125054	0.92[JPT][hapmap]
rs7126063	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7130681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs7925651	0.92[ASN][1000 genomes]
rs7930281	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7931062	0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs7936793	0.89[YRI][hapmap];0.86[AFR][1000 genomes]
rs7948688	0.94[ASN][1000 genomes]
rs7949582	0.87[YRI][hapmap];0.84[AFR][1000 genomes]
rs7950655	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9300099	0.85[AFR][1000 genomes]
rs9919605	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9919608	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9919609	0.98[ASN][1000 genomes]
rs9919617	0.98[ASN][1000 genomes]
rs9919633	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats 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	nsv896988	chr11:9912052-10012511	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1041148	chr11:9927980-9954537	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv976477	chr11:9929222-9945590	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9878800-9952200	Weak transcription	Aorta	Aorta
2	chr11:9894400-9978600	Weak transcription	Left Ventricle	heart
3	chr11:9904000-9937000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:9910000-9954600	Weak transcription	Pancreas	Pancrea
5	chr11:9915000-9937200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:9916800-9944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:9916800-9944400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:9917000-9937200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:9917600-9951800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:9917600-9952400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:9917800-9952600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:9921400-9934400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:9923400-9943600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:9923400-9952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:9924000-9944400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:9925200-9944400	Weak transcription	Ovary	ovary
17	chr11:9925400-9951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:9925400-9952200	Weak transcription	Lung	lung
19	chr11:9927800-9944400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:9928000-9944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:9928000-9944400	Weak transcription	Brain Anterior Caudate	brain
22	chr11:9928400-9944200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:9928600-9938200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:9928600-9944200	Weak transcription	Adipose Nuclei	Adipose
25	chr11:9929000-9935600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:9929000-9944200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:9929000-9944400	Weak transcription	Liver	Liver
28	chr11:9929000-9952000	Weak transcription	Fetal Lung	lung
29	chr11:9929200-9941000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:9929200-9966800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:9929400-9936000	Weak transcription	NHEK	skin
32	chr11:9929400-9944400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:9929600-9935400	Weak transcription	NHLF	lung
34	chr11:9929600-9936200	Weak transcription	NH-A	brain
35	chr11:9929600-9944200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:9929600-9944400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:9929600-9944400	Weak transcription	HSMM	muscle
38	chr11:9929600-9944400	Weak transcription	Osteobl	bone
39	chr11:9929600-9953000	Weak transcription	HSMMtube	muscle
40	chr11:9929800-9935400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:9930000-9938600	Weak transcription	Fetal Kidney	kidney
42	chr11:9930600-9935400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:9930600-9944200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:9931000-9944400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:9932000-9944400	Weak transcription	A549	lung
46	chr11:9932200-9935400	Weak transcription	NHDF-Ad	bronchial
47	chr11:9933200-9934600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:9933200-9934800	Strong transcription	Fetal Stomach	stomach
49	chr11:9933400-9936200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:9933600-9935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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