Variant report

Variant	rs57315427
Chromosome Location	chr2:10118488-10118489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10116985..10119097-chr2:10121014..10124029,3	MCF-7	breast:
2	chr2:10113040..10115115-chr2:10116343..10118491,3	MCF-7	breast:
3	chr2:10118472..10120283-chr2:10181291..10183170,2	MCF-7	breast:
4	chr2:10116612..10118624-chr2:10184791..10186448,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10929626	0.82[AFR][1000 genomes]
rs11684500	1.00[AFR][1000 genomes]
rs16867271	0.82[AFR][1000 genomes]
rs16867278	0.82[AFR][1000 genomes]
rs35792405	1.00[AFR][1000 genomes]
rs73162258	0.82[AFR][1000 genomes]
rs73162261	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1002769	chr2:10064511-10157028	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10094800-10124400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:10101400-10144800	Weak transcription	Brain Germinal Matrix	brain
3	chr2:10101600-10136400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:10102200-10136400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:10104600-10130200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:10106000-10119800	Weak transcription	Dnd41	blood
7	chr2:10113400-10124200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:10113400-10130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:10113400-10136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:10113400-10141200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:10113800-10124600	Weak transcription	Fetal Kidney	kidney
12	chr2:10114200-10124200	Weak transcription	K562	blood
13	chr2:10115000-10148000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:10116400-10118800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:10116400-10120200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:10116600-10118600	Strong transcription	Placenta	Placenta
17	chr2:10116600-10120200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:10116800-10119600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:10116800-10120600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:10116800-10121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10116800-10124400	Weak transcription	Right Ventricle	heart
22	chr2:10116800-10125000	Weak transcription	Right Atrium	heart
23	chr2:10116800-10126200	Weak transcription	Esophagus	oesophagus
24	chr2:10117000-10119400	Weak transcription	Osteobl	bone
25	chr2:10117000-10120000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:10117000-10120400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:10117000-10121000	Weak transcription	NHLF	lung
28	chr2:10117000-10122600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:10117000-10123200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:10117000-10123800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:10117000-10124200	Weak transcription	Lung	lung
32	chr2:10117000-10124200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:10117200-10119400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:10117200-10119600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:10117200-10119800	Weak transcription	NHDF-Ad	bronchial
36	chr2:10117200-10122200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:10117200-10122600	Weak transcription	Adipose Nuclei	Adipose
38	chr2:10117200-10124200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:10117800-10119600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:10118200-10118600	Strong transcription	HepG2	liver
41	chr2:10118200-10118800	Strong transcription	Liver	Liver

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