Variant report

Variant	rs7793487
Chromosome Location	chr7:50729128-50729129
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1007702	1.00[ASW][hapmap]
rs11575506	1.00[ASW][hapmap]
rs17665398	1.00[ASW][hapmap]
rs17665588	1.00[ASW][hapmap]
rs61734187	1.00[AMR][1000 genomes]
rs6593203	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50694200-50729200	Weak transcription	Hela-S3	cervix
2	chr7:50701000-50733600	Weak transcription	A549	lung
3	chr7:50701200-50731200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:50701200-50733600	Weak transcription	K562	blood
5	chr7:50706400-50744000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:50707200-50748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:50708200-50729400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:50710000-50733200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:50710000-50743600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:50710000-50758200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:50710200-50729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:50715600-50740600	Weak transcription	Brain Germinal Matrix	brain
13	chr7:50716600-50740200	Weak transcription	Fetal Intestine Large	intestine
14	chr7:50717200-50729400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:50718600-50729200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:50720600-50739400	Enhancers	Right Atrium	heart
17	chr7:50721400-50729200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:50722000-50737600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:50723000-50732400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:50723600-50735200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:50724200-50742800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:50725400-50737600	Enhancers	Psoas Muscle	Psoas
23	chr7:50726000-50729800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:50726000-50729800	Weak transcription	Osteobl	bone
25	chr7:50726000-50731000	Weak transcription	Aorta	Aorta
26	chr7:50726000-50734200	Weak transcription	Fetal Heart	heart
27	chr7:50726000-50734600	Strong transcription	Fetal Stomach	stomach
28	chr7:50726000-50741000	Weak transcription	Fetal Brain Female	brain
29	chr7:50726200-50729200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:50726200-50729200	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:50726200-50729400	Weak transcription	Brain Angular Gyrus	brain
32	chr7:50726200-50729400	Weak transcription	Brain Anterior Caudate	brain
33	chr7:50726200-50729400	Weak transcription	NHLF	lung
34	chr7:50726200-50729600	Weak transcription	HSMM	muscle
35	chr7:50726200-50730000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:50726200-50731000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:50726200-50731000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:50726200-50731000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:50726200-50732000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:50726400-50730000	Weak transcription	Brain Substantia Nigra	brain
41	chr7:50726600-50729200	Weak transcription	Placenta	Placenta
42	chr7:50726600-50733600	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:50726600-50734800	Weak transcription	Fetal Lung	lung
44	chr7:50726800-50729400	Enhancers	Left Ventricle	heart
45	chr7:50727200-50729400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:50727200-50729600	Weak transcription	Small Intestine	intestine
47	chr7:50727200-50729600	Strong transcription	HUVEC	blood vessel
48	chr7:50727200-50732200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:50727200-50734600	Genic enhancers	Pancreas	Pancrea
50	chr7:50727400-50730600	Genic enhancers	Right Ventricle	heart

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