Variant report

Variant	rs1871213
Chromosome Location	chr7:137530583-137530584
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	chr7:137521731..137523551-chr7:137529090..137530870,2	K562	blood:
2	chr7:137527969..137530649-chr7:137533553..137535061,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10230788	0.86[EUR][1000 genomes]
rs10256707	0.83[EUR][1000 genomes]
rs10257218	0.85[EUR][1000 genomes]
rs10260637	0.92[EUR][1000 genomes]
rs1109272	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28408194	0.80[EUR][1000 genomes]
rs28634434	0.83[EUR][1000 genomes]
rs34309725	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3823554	0.83[EUR][1000 genomes]
rs6974718	0.92[EUR][1000 genomes]
rs6978230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7796821	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv3406613	chr7:137530437-137532985	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	esv3342190	chr7:137530512-137532910	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137521800-137530800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:137527200-137532600	Active TSS	Brain Anterior Caudate	brain
3	chr7:137527600-137530600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:137528600-137530800	Flanking Active TSS	Fetal Brain Female	brain
5	chr7:137528600-137532800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:137528800-137530600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr7:137528800-137530600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:137528800-137532800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr7:137529400-137530800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:137529400-137531200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:137529600-137531200	Flanking Active TSS	Fetal Brain Male	brain
12	chr7:137529800-137530600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr7:137529800-137530600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:137529800-137531000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:137530000-137530600	Bivalent Enhancer	HepG2	liver
16	chr7:137530200-137530800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
17	chr7:137530200-137530800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:137530200-137530800	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr7:137530200-137530800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr7:137530400-137530600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
21	chr7:137530400-137530600	Flanking Active TSS	HSMM	muscle
22	chr7:137530400-137530800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr7:137530400-137530800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr7:137530400-137530800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:137530400-137530800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:137530400-137530800	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr7:137530400-137531000	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr7:137530400-137531000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr7:137530400-137531000	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr7:137530400-137531000	Enhancers	Gastric	stomach
31	chr7:137530400-137531000	Flanking Active TSS	HSMMtube	muscle
32	chr7:137530400-137531200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:137530400-137531200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:137530400-137531200	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr7:137530400-137531200	Flanking Active TSS	Osteobl	bone
36	chr7:137530400-137531800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr7:137530400-137531800	Active TSS	NH-A	brain
38	chr7:137530400-137532800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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