Variant report

Variant	rs7950974
Chromosome Location	chr11:105482279-105482280
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1037089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10791765	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11226826	0.85[JPT][hapmap]
rs11226850	0.85[JPT][hapmap]
rs1348676	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1373923	1.00[ASW][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104532	0.85[JPT][hapmap]
rs17104549	0.85[JPT][hapmap]
rs1822984	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1822988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1838666	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1942968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1942969	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1942970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1942976	1.00[ASN][1000 genomes]
rs2121062	0.85[JPT][hapmap]
rs561015	0.85[JPT][hapmap]
rs57833328	0.89[ASN][1000 genomes]
rs635980	0.85[JPT][hapmap]
rs6591139	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6591140	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs667713	0.85[JPT][hapmap]
rs7119216	0.85[JPT][hapmap]
rs7124769	0.85[JPT][hapmap]
rs7130919	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7929601	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7940036	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7947803	0.85[JPT][hapmap]
rs7948845	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949337	chr11:104950007-105510193	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr11:105479200-105484400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr11:105479400-105485800	Active TSS	Brain Angular Gyrus	brain
3	chr11:105479800-105484200	Active TSS	Brain Substantia Nigra	brain
4	chr11:105479800-105488600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:105480200-105482400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:105480200-105482400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:105480200-105482600	Active TSS	Fetal Brain Male	brain
8	chr11:105480200-105482800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:105480200-105483000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:105480200-105483000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:105480400-105482600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr11:105480400-105482600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:105480400-105482600	Active TSS	Brain Cingulate Gyrus	brain
14	chr11:105480400-105482800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
15	chr11:105480400-105483200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr11:105480400-105483200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:105480400-105484000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:105480400-105484200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:105480600-105482400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr11:105480600-105482400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr11:105480600-105482400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:105480600-105482400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:105480600-105482600	Active TSS	Brain Germinal Matrix	brain
24	chr11:105480600-105484000	Active TSS	Brain Anterior Caudate	brain
25	chr11:105480600-105485400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:105480800-105482400	Active TSS	Fetal Brain Female	brain
27	chr11:105480800-105482600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
28	chr11:105480800-105483000	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr11:105480800-105485400	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr11:105481200-105482400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:105481200-105482600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:105481200-105482600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
33	chr11:105481400-105482400	Active TSS	Right Atrium	heart
34	chr11:105481400-105482600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:105481400-105484400	Active TSS	Brain Hippocampus Middle	brain
36	chr11:105481600-105482400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
37	chr11:105481600-105482600	Bivalent Enhancer	Fetal Heart	heart
38	chr11:105481800-105482400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr11:105481800-105482800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr11:105481800-105482800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
41	chr11:105481800-105483600	Bivalent/Poised TSS	NHDF-Ad	bronchial
42	chr11:105482000-105482400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:105482000-105482400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr11:105482000-105482600	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:105482000-105482800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:105482000-105482800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:105482000-105482800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr11:105482000-105482800	Bivalent Enhancer	Fetal Lung	lung
49	chr11:105482000-105483000	Bivalent Enhancer	Fetal Kidney	kidney
50	chr11:105482000-105483200	Active TSS	Fetal Muscle Trunk	muscle

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