Variant report

Variant	rs12226782
Chromosome Location	chr11:100631139-100631140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10431109	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10488786	1.00[AFR][1000 genomes]
rs11224348	1.00[CEU][hapmap]
rs11224350	1.00[CEU][hapmap]
rs11224351	1.00[CEU][hapmap]
rs11224367	1.00[ASW][hapmap]
rs11224368	1.00[ASW][hapmap]
rs11224390	1.00[CEU][hapmap]
rs11224400	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11224402	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11224406	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224407	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224408	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224411	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11224430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224442	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224443	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224445	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11224446	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11224447	0.94[ASN][1000 genomes]
rs11224450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11224457	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11224464	0.82[ASN][1000 genomes]
rs11224467	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11224471	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11224472	0.82[ASN][1000 genomes]
rs11224473	0.82[ASN][1000 genomes]
rs11224493	1.00[AFR][1000 genomes]
rs11224494	1.00[AFR][1000 genomes]
rs11224495	1.00[AFR][1000 genomes]
rs12221887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12225108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1502283	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17095481	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17652307	0.82[AMR][1000 genomes]
rs2897755	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs517349	1.00[AFR][1000 genomes]
rs581773	1.00[AFR][1000 genomes]
rs58232316	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59240226	0.96[ASN][1000 genomes]
rs60799929	0.96[ASN][1000 genomes]
rs61890769	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61890770	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61890783	0.91[ASN][1000 genomes]
rs61890784	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs61890786	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61890788	0.82[ASN][1000 genomes]
rs61890789	0.82[ASN][1000 genomes]
rs61890806	1.00[AFR][1000 genomes]
rs61890815	1.00[AFR][1000 genomes]
rs61890817	1.00[AFR][1000 genomes]
rs61890819	1.00[AFR][1000 genomes]
rs61890820	1.00[AFR][1000 genomes]
rs61890821	1.00[AFR][1000 genomes]
rs61910470	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61910471	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61910472	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61910473	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61910474	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61910475	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61910477	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61910479	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61910503	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61910504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs679012	1.00[AFR][1000 genomes]
rs7117419	1.00[ASW][hapmap]

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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100613000-100631600	Weak transcription	Ovary	ovary
2	chr11:100621000-100642400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:100621400-100631600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:100623400-100632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:100624600-100631600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:100624600-100631600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:100624600-100631600	Weak transcription	Adipose Nuclei	Adipose
8	chr11:100624600-100635000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
10	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
11	chr11:100624800-100634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:100625000-100637600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:100625200-100632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:100626000-100639600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:100626200-100631600	Weak transcription	Psoas Muscle	Psoas
16	chr11:100626400-100631400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:100627400-100632000	Weak transcription	HSMMtube	muscle
18	chr11:100627600-100632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:100628200-100642800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:100628600-100631600	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:100628600-100632000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:100628600-100632600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:100628800-100631800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:100629000-100632200	Enhancers	Fetal Intestine Large	intestine
25	chr11:100629000-100632200	Enhancers	Fetal Intestine Small	intestine
26	chr11:100629200-100632800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:100629200-100642800	Weak transcription	Liver	Liver
28	chr11:100629400-100632200	Weak transcription	Fetal Lung	lung
29	chr11:100629600-100633200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:100629800-100631200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr11:100629800-100631800	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:100630000-100632800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:100630200-100631800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:100630400-100634200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:100630600-100631600	Weak transcription	Stomach Mucosa	stomach
36	chr11:100630600-100631800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:100630600-100632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:100630600-100635400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr11:100630800-100631800	Enhancers	K562	blood
40	chr11:100630800-100632000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:100630800-100632000	Enhancers	Fetal Heart	heart
42	chr11:100630800-100635000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:100630800-100635200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:100630800-100635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:100631000-100631400	Weak transcription	Right Atrium	heart
46	chr11:100631000-100631600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:100631000-100632200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:100631000-100632800	Weak transcription	Small Intestine	intestine
49	chr11:100631000-100637800	Weak transcription	Placenta	Placenta
50	chr11:100631000-100639000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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