Variant report

Variant	rs7930157
Chromosome Location	chr11:100611171-100611172
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10128687	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10431108	0.90[ASN][1000 genomes]
rs10895009	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10895011	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224403	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11224412	0.82[AFR][1000 genomes]
rs11224417	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11224435	0.84[ASN][1000 genomes]
rs1216743	0.82[ASN][1000 genomes]
rs12269905	0.83[ASN][1000 genomes]
rs12286062	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288075	0.83[ASN][1000 genomes]
rs12291493	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1502284	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1847149	0.89[ASN][1000 genomes]
rs1847150	0.89[ASN][1000 genomes]
rs2298609	0.91[ASN][1000 genomes]
rs4495864	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4753982	0.82[AFR][1000 genomes]
rs4753984	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754695	0.90[ASN][1000 genomes]
rs4754696	0.82[AFR][1000 genomes]
rs4754697	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754698	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs486023	0.87[ASN][1000 genomes]
rs492237	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs604723	1.00[ASN][1000 genomes]
rs607562	0.93[ASN][1000 genomes]
rs633185	0.99[ASN][1000 genomes]
rs653320	0.81[ASN][1000 genomes]
rs6590810	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6590811	0.89[ASN][1000 genomes]
rs6590812	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6590813	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6590814	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6590816	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6590817	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667575	0.89[ASN][1000 genomes]
rs670401	0.81[ASN][1000 genomes]
rs67143028	0.81[ASN][1000 genomes]
rs7103397	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7105451	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7106603	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7112041	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7114867	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7125452	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7130275	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7926526	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7928576	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938194	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7946913	0.94[AFR][1000 genomes]
rs7952055	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919648	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100591000-100611200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:100598800-100611800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:100598800-100620000	Weak transcription	Gastric	stomach
4	chr11:100599800-100619800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:100605400-100614400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr11:100606800-100611400	Weak transcription	Primary B cells from cord blood	blood
7	chr11:100607200-100611800	Weak transcription	Left Ventricle	heart
8	chr11:100607400-100611200	Weak transcription	GM12878-XiMat	blood
9	chr11:100607400-100612200	Weak transcription	Small Intestine	intestine
10	chr11:100607400-100615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:100608200-100613000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:100608200-100614800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:100608400-100611800	Enhancers	NHDF-Ad	bronchial
14	chr11:100609000-100612400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:100609000-100613000	Enhancers	Liver	Liver
16	chr11:100609000-100613200	Enhancers	Fetal Kidney	kidney
17	chr11:100609000-100613600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:100609200-100612400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:100609200-100612400	Enhancers	Fetal Lung	lung
20	chr11:100609200-100612400	Enhancers	HSMM	muscle
21	chr11:100609200-100612800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:100609400-100613400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:100609400-100613800	Enhancers	Fetal Heart	heart
24	chr11:100609600-100611200	Enhancers	Osteobl	bone
25	chr11:100609600-100611600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:100609600-100611800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:100609600-100612200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr11:100609600-100612400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:100609600-100612400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr11:100609600-100613000	Enhancers	Fetal Muscle Leg	muscle
31	chr11:100609600-100613600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr11:100610000-100612800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr11:100610000-100614200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:100610200-100611800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:100610200-100611800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:100610200-100612400	Enhancers	Fetal Intestine Large	intestine
37	chr11:100610200-100613000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:100610200-100613000	Enhancers	Fetal Intestine Small	intestine
39	chr11:100610200-100614400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr11:100610200-100614800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:100610400-100611400	Enhancers	HepG2	liver
42	chr11:100610400-100611600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:100610400-100611600	Enhancers	Fetal Stomach	stomach
44	chr11:100610400-100611600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:100610400-100611600	Enhancers	Stomach Mucosa	stomach
46	chr11:100610400-100611600	Enhancers	Stomach Smooth Muscle	stomach
47	chr11:100610400-100611600	Enhancers	HUVEC	blood vessel
48	chr11:100610400-100612400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr11:100610400-100612400	Enhancers	HMEC	breast
50	chr11:100610400-100613000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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