Variant report

Variant	rs7130855
Chromosome Location	chr11:100627329-100627330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11224405	0.82[ASN][1000 genomes]
rs11824393	0.82[ASN][1000 genomes]
rs11824432	0.82[ASN][1000 genomes]
rs12284151	0.82[ASN][1000 genomes]
rs17095405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095409	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17095428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17095429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17095438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17095439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2088953	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407750	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3901516	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4087602	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4121392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4337001	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4469852	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4517481	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753983	0.82[ASN][1000 genomes]
rs4754702	1.00[CHB][hapmap]
rs499241	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs507695	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs58727919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60708905	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890760	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61890763	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61890764	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61890765	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61890766	0.88[ASN][1000 genomes]
rs61892334	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892355	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61910476	0.88[ASN][1000 genomes]
rs61910478	0.82[ASN][1000 genomes]
rs61910480	0.82[ASN][1000 genomes]
rs61910505	0.82[ASN][1000 genomes]
rs61910508	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6590818	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7102634	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7105842	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7110872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7112228	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7112366	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7116153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117515	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126015	0.82[ASN][1000 genomes]
rs7126324	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003836	0.82[ASN][1000 genomes]
rs73005729	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7942588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7944598	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7945336	0.88[ASN][1000 genomes]
rs7947761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	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
6	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
7	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
8	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:54 , 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	chr11:100620800-100628400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:100621000-100642400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:100621400-100631600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:100623400-100632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:100624400-100630800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:100624600-100628000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:100624600-100629000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:100624600-100630800	Weak transcription	Placenta	Placenta
12	chr11:100624600-100631600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:100624600-100631600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:100624600-100631600	Weak transcription	Adipose Nuclei	Adipose
15	chr11:100624600-100635000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:100624600-100655600	Weak transcription	Left Ventricle	heart
17	chr11:100624600-100655600	Weak transcription	Right Ventricle	heart
18	chr11:100624800-100627400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:100624800-100629000	Weak transcription	Fetal Intestine Large	intestine
20	chr11:100624800-100629000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:100624800-100629800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:100624800-100630000	Weak transcription	Stomach Mucosa	stomach
23	chr11:100624800-100630600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:100624800-100634800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:100625000-100629000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:100625000-100637600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:100625200-100627400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:100625200-100629000	Weak transcription	Fetal Intestine Small	intestine
29	chr11:100625200-100632200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:100625400-100629400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:100625400-100629800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:100625600-100630200	Enhancers	Fetal Heart	heart
33	chr11:100625800-100630200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:100626000-100627400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:100626000-100629800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:100626000-100630600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:100626000-100639600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:100626200-100631600	Weak transcription	Psoas Muscle	Psoas
39	chr11:100626400-100628400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:100626400-100629000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:100626400-100629200	Weak transcription	Small Intestine	intestine
42	chr11:100626400-100629800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:100626400-100630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:100626400-100631400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:100626800-100629200	Enhancers	Liver	Liver
46	chr11:100627000-100628800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr11:100627000-100629400	Enhancers	Fetal Lung	lung
48	chr11:100627200-100627400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:100627200-100627400	Enhancers	A549	lung
50	chr11:100627200-100627400	Enhancers	HSMMtube	muscle

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