Variant report

Variant	rs4754698
Chromosome Location	chr11:100631908-100631909
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10128687	0.94[ASN][1000 genomes]
rs10431108	0.85[ASN][1000 genomes]
rs10895009	0.88[ASN][1000 genomes]
rs10895011	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11224403	0.88[ASN][1000 genomes]
rs11224417	0.93[ASN][1000 genomes]
rs11224435	0.89[ASN][1000 genomes]
rs12286062	0.94[ASN][1000 genomes]
rs12291493	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12419937	0.82[ASN][1000 genomes]
rs1502284	0.88[ASN][1000 genomes]
rs1847149	0.84[ASN][1000 genomes]
rs1847150	0.84[ASN][1000 genomes]
rs2298609	0.86[ASN][1000 genomes]
rs3858410	0.82[ASN][1000 genomes]
rs4312035	0.86[CHB][hapmap]
rs4495864	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4753984	0.94[ASN][1000 genomes]
rs4754695	0.85[ASN][1000 genomes]
rs4754697	0.94[ASN][1000 genomes]
rs486023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs492237	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs604723	0.94[ASN][1000 genomes]
rs607562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs633185	0.94[ASN][1000 genomes]
rs6590810	0.85[ASN][1000 genomes]
rs6590811	0.84[ASN][1000 genomes]
rs6590812	0.83[ASN][1000 genomes]
rs6590813	0.88[ASN][1000 genomes]
rs6590814	0.90[ASN][1000 genomes]
rs6590816	0.84[ASN][1000 genomes]
rs6590817	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6590820	0.83[ASN][1000 genomes]
rs667575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs67143028	0.87[ASN][1000 genomes]
rs7103397	0.94[ASN][1000 genomes]
rs7105451	0.94[ASN][1000 genomes]
rs7106603	0.88[ASN][1000 genomes]
rs7112041	0.94[ASN][1000 genomes]
rs7114867	0.94[ASN][1000 genomes]
rs7125452	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130275	0.94[ASN][1000 genomes]
rs7926526	0.88[ASN][1000 genomes]
rs7928576	0.94[ASN][1000 genomes]
rs7930157	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7938194	0.80[ASN][1000 genomes]
rs7952055	0.94[ASN][1000 genomes]
rs9919648	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	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
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100621000-100642400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:100623400-100632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:100624600-100635000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
5	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
6	chr11:100624800-100634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:100625000-100637600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:100625200-100632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:100626000-100639600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:100627400-100632000	Weak transcription	HSMMtube	muscle
11	chr11:100627600-100632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:100628200-100642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:100628600-100632000	Weak transcription	Brain Anterior Caudate	brain
14	chr11:100628600-100632600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:100629000-100632200	Enhancers	Fetal Intestine Large	intestine
16	chr11:100629000-100632200	Enhancers	Fetal Intestine Small	intestine
17	chr11:100629200-100632800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:100629200-100642800	Weak transcription	Liver	Liver
19	chr11:100629400-100632200	Weak transcription	Fetal Lung	lung
20	chr11:100629600-100633200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:100630000-100632800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr11:100630400-100634200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:100630600-100632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:100630600-100635400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:100630800-100632000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:100630800-100632000	Enhancers	Fetal Heart	heart
27	chr11:100630800-100635000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:100630800-100635200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:100630800-100635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:100631000-100632200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:100631000-100632800	Weak transcription	Small Intestine	intestine
32	chr11:100631000-100637800	Weak transcription	Placenta	Placenta
33	chr11:100631000-100639000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:100631000-100639600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:100631200-100632800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:100631400-100633200	Enhancers	Right Atrium	heart
37	chr11:100631600-100632000	Enhancers	Stomach Mucosa	stomach
38	chr11:100631600-100632200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:100631600-100632200	Enhancers	Colonic Mucosa	Colon
40	chr11:100631600-100633000	Enhancers	Brain Hippocampus Middle	brain
41	chr11:100631600-100633200	Enhancers	Adipose Nuclei	Adipose
42	chr11:100631800-100632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:100631800-100632400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:100631800-100632600	Weak transcription	Psoas Muscle	Psoas
45	chr11:100631800-100632800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:100631800-100633000	Enhancers	NHDF-Ad	bronchial
47	chr11:100631800-100633000	Enhancers	NHLF	lung
48	chr11:100631800-100635000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:100631800-100638600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:100631800-100645000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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