Variant report

Variant	rs28431976
Chromosome Location	chr7:120918340-120918341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:117822911..117825721-chr7:120917974..120920146,2	K562	blood:
2	chr7:120878568..120880747-chr7:120916933..120919501,2	K562	blood:

Variant related genes	Relation type
ENSG00000128534	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10244847	0.82[AFR][1000 genomes]
rs1357754	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1027619	chr7:120906437-120976630	Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	esv2757237	chr7:120908459-120993326	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	esv2759558	chr7:120908459-120993326	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
2	chr7:120888800-120937800	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:120895800-120923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:120909000-120919600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:120909000-120923600	Weak transcription	Fetal Stomach	stomach
6	chr7:120909000-120923600	Weak transcription	Right Ventricle	heart
7	chr7:120909000-120933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:120909200-120923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:120909600-120920600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:120910200-120923600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:120910200-120930000	Weak transcription	Fetal Lung	lung
12	chr7:120910200-120933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:120913000-120920400	Weak transcription	Left Ventricle	heart
14	chr7:120913000-120923600	Weak transcription	Aorta	Aorta
15	chr7:120914400-120922800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:120914800-120919400	Enhancers	Hela-S3	cervix
17	chr7:120915200-120918400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:120915800-120920400	Weak transcription	Liver	Liver
19	chr7:120916600-120918600	Genic enhancers	K562	blood
20	chr7:120916800-120918800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:120917200-120918400	Enhancers	GM12878-XiMat	blood
22	chr7:120917400-120921000	Strong transcription	Ovary	ovary
23	chr7:120917600-120924000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:120917800-120919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:120917800-120919400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:120917800-120919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:120917800-120919800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:120918000-120919000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:120918000-120920200	Weak transcription	Adipose Nuclei	Adipose
30	chr7:120918000-120920600	Genic enhancers	HSMM	muscle
31	chr7:120918200-120918400	Enhancers	Osteobl	bone
32	chr7:120918200-120918600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:120918200-120918600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:120918200-120918600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:120918200-120918600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:120918200-120918600	Enhancers	NH-A	brain
37	chr7:120918200-120919000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:120918200-120919000	Flanking Active TSS	HSMMtube	muscle
39	chr7:120918200-120919400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:120918200-120920000	Enhancers	NHLF	lung
41	chr7:120918200-120920400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:120918200-120921400	Enhancers	NHDF-Ad	bronchial

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