Variant report

Variant	rs58730747
Chromosome Location	chr7:99512028-99512029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99510583..99513699-chr7:99647342..99649461,3	MCF-7	breast:
2	chr7:99510858..99512845-chr7:99666922..99668822,2	K562	blood:
3	chr2:165360557..165361413-chr7:99511775..99512648,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166529	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17161888	1.00[AMR][1000 genomes]
rs57028043	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57128906	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57263854	1.00[AMR][1000 genomes]
rs57403878	1.00[AMR][1000 genomes]
rs58602971	1.00[AMR][1000 genomes]
rs58604532	1.00[AMR][1000 genomes]
rs59053341	1.00[AMR][1000 genomes]
rs59687495	1.00[AMR][1000 genomes]
rs59900957	1.00[AMR][1000 genomes]
rs60305755	1.00[AMR][1000 genomes]
rs60684015	1.00[AMR][1000 genomes]
rs60692359	1.00[AMR][1000 genomes]
rs61628190	1.00[AMR][1000 genomes]
rs61648592	1.00[AMR][1000 genomes]
rs61687460	1.00[AMR][1000 genomes]
rs61742750	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73393662	1.00[AMR][1000 genomes]
rs73395957	1.00[AMR][1000 genomes]
rs73403599	1.00[AMR][1000 genomes]
rs73405419	1.00[AMR][1000 genomes]
rs73405431	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405465	1.00[AMR][1000 genomes]
rs73405469	1.00[AMR][1000 genomes]
rs73405474	1.00[AMR][1000 genomes]
rs73405480	1.00[AMR][1000 genomes]
rs73405481	1.00[AMR][1000 genomes]
rs73409503	1.00[AMR][1000 genomes]
rs73409509	1.00[AMR][1000 genomes]
rs73409513	1.00[AMR][1000 genomes]
rs73409528	1.00[AMR][1000 genomes]
rs73409529	1.00[AMR][1000 genomes]
rs73409546	1.00[AMR][1000 genomes]
rs73409549	1.00[AMR][1000 genomes]
rs73409550	1.00[AMR][1000 genomes]
rs73409552	1.00[AMR][1000 genomes]
rs73411424	1.00[AMR][1000 genomes]
rs73411425	1.00[AMR][1000 genomes]

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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99492600-99516600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:99495400-99514400	Weak transcription	Stomach Mucosa	stomach
3	chr7:99503000-99516400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:99506400-99515800	Weak transcription	Fetal Heart	heart
5	chr7:99507000-99512200	Weak transcription	Right Ventricle	heart
6	chr7:99507000-99515000	Weak transcription	Psoas Muscle	Psoas
7	chr7:99507000-99515600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:99507200-99512200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:99507200-99512200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:99507200-99512400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:99507200-99512800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:99507200-99512800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr7:99507200-99512800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:99507200-99513200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:99507200-99513200	Weak transcription	Placenta	Placenta
16	chr7:99507200-99513400	Weak transcription	Aorta	Aorta
17	chr7:99507200-99513400	Weak transcription	Hela-S3	cervix
18	chr7:99507200-99513800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:99507200-99514600	Weak transcription	NHDF-Ad	bronchial
20	chr7:99507200-99516000	Weak transcription	Esophagus	oesophagus
21	chr7:99507200-99516400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:99507200-99516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:99507400-99512400	Weak transcription	Brain Germinal Matrix	brain
24	chr7:99507400-99512800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:99507400-99512800	Weak transcription	Adipose Nuclei	Adipose
26	chr7:99507400-99512800	Weak transcription	Fetal Intestine Large	intestine
27	chr7:99507400-99513000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:99507400-99513200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:99507400-99513200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:99507400-99513400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:99507400-99513400	Weak transcription	Brain Anterior Caudate	brain
32	chr7:99507400-99513800	Weak transcription	GM12878-XiMat	blood
33	chr7:99507400-99513800	Weak transcription	NHLF	lung
34	chr7:99507400-99514000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:99507400-99514000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:99507400-99514000	Weak transcription	Ovary	ovary
37	chr7:99507400-99514000	Weak transcription	Pancreas	Pancrea
38	chr7:99507400-99514000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:99507400-99514400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:99507400-99514400	Weak transcription	HUVEC	blood vessel
41	chr7:99507400-99514600	Weak transcription	Fetal Brain Male	brain
42	chr7:99507400-99514600	Weak transcription	Fetal Kidney	kidney
43	chr7:99507400-99515800	Weak transcription	Colonic Mucosa	Colon
44	chr7:99507600-99512400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:99507600-99514200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:99507800-99513200	Weak transcription	Small Intestine	intestine
47	chr7:99507800-99515600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:99508600-99512800	Weak transcription	NH-A	brain
49	chr7:99508800-99512800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:99508800-99512800	Weak transcription	Brain Cingulate Gyrus	brain

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