Variant report

Variant	rs11224430
Chromosome Location	chr11:100624096-100624097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
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]
rs11224436	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224442	0.92[CHB][hapmap];0.85[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]
rs12226782	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];0.88[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: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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100612400-100630800	Weak transcription	Right Atrium	heart
2	chr11:100613000-100631600	Weak transcription	Ovary	ovary
3	chr11:100613200-100628400	Weak transcription	Fetal Kidney	kidney
4	chr11:100620800-100626800	Weak transcription	Liver	Liver
5	chr11:100620800-100628400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:100621000-100642400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:100621400-100624400	Weak transcription	Fetal Lung	lung
8	chr11:100621400-100631600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:100622200-100625800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:100622800-100624600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:100622800-100624600	Enhancers	Placenta	Placenta
12	chr11:100622800-100624800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:100622800-100624800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:100622800-100624800	Enhancers	HMEC	breast
15	chr11:100622800-100624800	Enhancers	NHEK	skin
16	chr11:100622800-100625200	Enhancers	Fetal Heart	heart
17	chr11:100623000-100624200	Enhancers	Spleen	Spleen
18	chr11:100623000-100624400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:100623000-100624600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:100623000-100624600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:100623000-100624600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:100623000-100624800	Enhancers	Stomach Mucosa	stomach
23	chr11:100623000-100625000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:100623000-100625200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:100623000-100625200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:100623000-100625200	Enhancers	A549	lung
27	chr11:100623000-100626000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:100623000-100626400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:100623200-100624400	Enhancers	Gastric	stomach
30	chr11:100623200-100624600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:100623200-100624600	Enhancers	Left Ventricle	heart
32	chr11:100623200-100624600	Enhancers	Right Ventricle	heart
33	chr11:100623200-100624800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr11:100623200-100625000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:100623200-100625400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:100623200-100626000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:100623200-100626400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr11:100623400-100624600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:100623400-100624800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:100623400-100624800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:100623400-100625000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:100623400-100625400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr11:100623400-100632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:100623600-100624400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:100623600-100624400	Enhancers	Fetal Muscle Trunk	muscle
46	chr11:100623600-100624600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:100623600-100624600	Enhancers	Hela-S3	cervix
48	chr11:100623600-100624800	Enhancers	Fetal Muscle Leg	muscle
49	chr11:100623600-100625000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:100623600-100625400	Enhancers	Duodenum Mucosa	Duodenum

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