Variant report

Variant	rs11977933
Chromosome Location	chr7:80520468-80520469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80516470..80518143-chr7:80520013..80522013,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1002372	0.92[YRI][hapmap]
rs12666421	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12670659	1.00[ASN][1000 genomes]
rs12671203	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12673546	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16886865	1.00[ASN][1000 genomes]
rs4731944	1.00[CHB][hapmap]
rs57764212	1.00[AMR][1000 genomes]
rs61513924	1.00[AMR][1000 genomes]
rs73374868	1.00[AMR][1000 genomes]
rs73374880	1.00[AMR][1000 genomes]
rs73374893	1.00[AMR][1000 genomes]
rs73374896	1.00[AMR][1000 genomes]
rs73374898	1.00[AMR][1000 genomes]
rs767185	1.00[CHB][hapmap]
rs853059	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80471800-80532600	Weak transcription	Fetal Stomach	stomach
2	chr7:80500200-80526200	Weak transcription	Psoas Muscle	Psoas
3	chr7:80500200-80534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:80506600-80524200	Weak transcription	Fetal Brain Male	brain
5	chr7:80510000-80526000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:80510000-80526000	Weak transcription	Right Ventricle	heart
7	chr7:80512800-80526000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:80513400-80533400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:80513800-80530200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:80514600-80529800	Weak transcription	Hela-S3	cervix
11	chr7:80514800-80529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:80515000-80525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:80515000-80546400	Weak transcription	Left Ventricle	heart
14	chr7:80515400-80526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:80516800-80520800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:80517800-80524400	Weak transcription	NH-A	brain
17	chr7:80517800-80531200	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:80517800-80544600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:80518400-80522000	Weak transcription	HSMM	muscle
20	chr7:80518400-80531200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:80519400-80520600	Enhancers	Colon Smooth Muscle	Colon
22	chr7:80519400-80520800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr7:80519400-80526200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:80519600-80520800	Enhancers	Fetal Intestine Large	intestine
25	chr7:80519600-80520800	Enhancers	Fetal Intestine Small	intestine
26	chr7:80519800-80520600	Enhancers	Small Intestine	intestine
27	chr7:80519800-80520800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:80519800-80520800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:80519800-80520800	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:80519800-80522200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:80519800-80526000	Strong transcription	HMEC	breast
32	chr7:80520000-80520600	Enhancers	Fetal Lung	lung
33	chr7:80520000-80520600	Flanking Active TSS	A549	lung
34	chr7:80520000-80520800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:80520000-80520800	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:80520000-80520800	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:80520000-80520800	Active TSS	Stomach Smooth Muscle	stomach
38	chr7:80520000-80520800	Enhancers	Osteobl	bone
39	chr7:80520200-80520600	Enhancers	Brain Hippocampus Middle	brain
40	chr7:80520200-80520600	Enhancers	Fetal Kidney	kidney
41	chr7:80520200-80520600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr7:80520200-80520600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr7:80520200-80520800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:80520200-80520800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:80520200-80520800	Enhancers	Adipose Nuclei	Adipose
46	chr7:80520200-80520800	Enhancers	Ovary	ovary
47	chr7:80520200-80520800	Enhancers	NHEK	skin
48	chr7:80520200-80521000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:80520200-80521000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:80520400-80520600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links