Variant report

Variant	rs12539587
Chromosome Location	chr7:101178955-101178956
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	chr7:100481636..100484025-chr7:101177700..101179371,2	K562	blood:

Variant related genes	Relation type
ENSG00000087087	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1476655	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465094	0.88[AFR][1000 genomes]
rs73173918	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1796652	chr7:101156017-101219459	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv3390292	chr7:101175732-101179930	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101151000-101181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:101159600-101188200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:101160400-101186000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:101160600-101190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:101161800-101186000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:101167200-101184200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:101170000-101183800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:101171800-101187800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:101176200-101181400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:101176400-101190800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:101177000-101180800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:101177400-101180800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:101177400-101181400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:101177800-101179000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:101178000-101182200	Enhancers	Liver	Liver
16	chr7:101178200-101179000	Enhancers	Pancreas	Pancrea
17	chr7:101178200-101179200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:101178200-101179800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:101178200-101182600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr7:101178200-101182600	Enhancers	Fetal Muscle Leg	muscle
21	chr7:101178400-101179200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:101178400-101179400	Enhancers	HSMMtube	muscle
23	chr7:101178400-101181000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:101178400-101181800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr7:101178400-101185800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:101178600-101179000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:101178600-101179000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:101178600-101179000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:101178600-101179000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:101178600-101179000	Enhancers	Aorta	Aorta
31	chr7:101178600-101179000	Enhancers	Right Ventricle	heart
32	chr7:101178600-101179000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr7:101178600-101179200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:101178600-101179200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr7:101178600-101179800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:101178600-101179800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:101178600-101179800	Enhancers	Right Atrium	heart
38	chr7:101178600-101180200	Enhancers	HepG2	liver
39	chr7:101178600-101180400	Enhancers	Adipose Nuclei	Adipose
40	chr7:101178600-101180800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:101178600-101181200	Enhancers	HSMM	muscle
42	chr7:101178600-101181400	Enhancers	Spleen	Spleen
43	chr7:101178600-101183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:101178800-101179000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:101178800-101179000	Enhancers	Hela-S3	cervix
46	chr7:101178800-101179200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:101178800-101179200	Bivalent Enhancer	NH-A	brain
48	chr7:101178800-101179200	Enhancers	Osteobl	bone
49	chr7:101178800-101179600	Enhancers	Gastric	stomach
50	chr7:101178800-101179800	Enhancers	Fetal Lung	lung

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