Variant report

Variant	rs7125054
Chromosome Location	chr11:9945257-9945258
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10770074	1.00[JPT][hapmap]
rs10840328	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042549	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12360818	0.92[JPT][hapmap]
rs12796169	0.91[JPT][hapmap]
rs1913159	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35396321	0.90[AMR][1000 genomes]
rs4445629	0.81[AMR][1000 genomes]
rs4498988	1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs4616018	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4910076	1.00[JPT][hapmap]
rs4910082	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4910083	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6483809	0.91[JPT][hapmap]
rs7102482	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105337	0.91[JPT][hapmap]
rs7125856	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7126063	0.92[JPT][hapmap]
rs7130681	0.91[JPT][hapmap]
rs7130923	0.92[JPT][hapmap]
rs7930281	0.91[JPT][hapmap]
rs7942000	0.82[ASN][1000 genomes]
rs7945547	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9919605	0.91[JPT][hapmap]

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:59 , 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	chr11:9910000-9954600	Weak transcription	Pancreas	Pancrea
4	chr11:9917600-9951800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:9917600-9952400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9917800-9952600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:9923400-9952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:9925400-9951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr11:9925400-9952200	Weak transcription	Lung	lung
10	chr11:9929000-9952000	Weak transcription	Fetal Lung	lung
11	chr11:9929200-9966800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:9929600-9953000	Weak transcription	HSMMtube	muscle
13	chr11:9933600-9946200	Weak transcription	Fetal Intestine Small	intestine
14	chr11:9934800-9952200	Weak transcription	Fetal Stomach	stomach
15	chr11:9935800-9952000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:9936200-9951800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr11:9936200-9952000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:9941600-9952400	Weak transcription	Fetal Brain Female	brain
19	chr11:9942200-9952200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:9942800-9947400	Weak transcription	Right Atrium	heart
21	chr11:9943000-9945400	Enhancers	NHEK	skin
22	chr11:9943400-9980600	Weak transcription	Primary T cells from cord blood	blood
23	chr11:9943600-9946400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:9943600-9952200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:9943800-9946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:9944200-9945400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:9944200-9945600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:9944200-9945600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:9944200-9945800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:9944200-9945800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:9944200-9946000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:9944400-9945400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:9944400-9945600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:9944400-9945600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:9944400-9945600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:9944400-9945800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr11:9944400-9945800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:9944400-9945800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr11:9944600-9945600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:9944600-9945600	Enhancers	NHDF-Ad	bronchial
41	chr11:9944600-9945800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr11:9944600-9945800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr11:9944600-9952800	Weak transcription	Liver	Liver
44	chr11:9944800-9945600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr11:9944800-9951200	Weak transcription	Adipose Nuclei	Adipose
46	chr11:9944800-9951600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:9944800-9952000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:9944800-9952000	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:9944800-9952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:9944800-9952400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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