Variant report

Variant	rs1515863
Chromosome Location	chr2:190086786-190086787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190012942..190018195-chr2:190085147..190088368,4	MCF-7	breast:
2	chr2:190086028..190087990-chr2:190129145..190131338,2	MCF-7	breast:
3	chr2:190077868..190079394-chr2:190086183..190089052,2	MCF-7	breast:
4	chr2:190043908..190047710-chr2:190084994..190089422,4	MCF-7	breast:
5	chr2:190081246..190084128-chr2:190084434..190087476,3	K562	blood:
6	chr2:190085609..190089806-chr2:190139492..190143052,4	MCF-7	breast:
7	chr2:189957884..189960424-chr2:190085225..190088535,3	MCF-7	breast:
8	chr17:57922578..57924225-chr2:190085832..190088174,2	MCF-7	breast:
9	chr2:190074579..190076225-chr2:190085427..190087119,2	MCF-7	breast:
10	chr2:190010189..190015498-chr2:190084856..190090227,6	MCF-7	breast:
11	chr2:190086588..190088332-chr2:190150217..190152218,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204262	Chromatin interaction
ENSG00000228073	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10190073	1.00[AMR][1000 genomes]
rs10210890	1.00[AMR][1000 genomes]
rs10211173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10931399	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs12693529	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs1399990	1.00[AMR][1000 genomes]
rs1519180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1818585	1.00[AMR][1000 genomes]
rs2037170	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs2037171	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs34556340	1.00[AMR][1000 genomes]
rs34606082	1.00[AMR][1000 genomes]
rs3914569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57449412	1.00[AMR][1000 genomes]
rs57484527	1.00[AMR][1000 genomes]
rs58082189	1.00[AMR][1000 genomes]
rs58148508	1.00[AMR][1000 genomes]
rs58624621	1.00[AMR][1000 genomes]
rs59784139	1.00[AMR][1000 genomes]
rs61325916	1.00[AMR][1000 genomes]
rs61621835	1.00[AMR][1000 genomes]
rs6434329	1.00[AMR][1000 genomes]
rs6434331	1.00[AMR][1000 genomes]
rs6434332	1.00[AMR][1000 genomes]
rs6434333	1.00[AMR][1000 genomes]
rs6434336	1.00[AMR][1000 genomes]
rs6706066	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs73978807	1.00[AMR][1000 genomes]
rs73978813	1.00[AMR][1000 genomes]
rs73978814	1.00[AMR][1000 genomes]
rs73978816	1.00[AMR][1000 genomes]
rs73978826	1.00[AMR][1000 genomes]
rs73978829	1.00[AMR][1000 genomes]
rs73981483	1.00[AMR][1000 genomes]
rs7578627	1.00[AMR][1000 genomes]
rs7594988	1.00[AMR][1000 genomes]
rs7606163	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs939156	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190076000-190087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:190076000-190096800	Weak transcription	Aorta	Aorta
3	chr2:190078400-190087800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:190078600-190086800	Weak transcription	NHLF	lung
5	chr2:190082600-190086800	Weak transcription	HSMMtube	muscle
6	chr2:190082800-190087200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:190082800-190087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:190082800-190087200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:190082800-190087200	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:190083200-190086800	Weak transcription	NH-A	brain
11	chr2:190083600-190087200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:190083600-190087400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:190084000-190087200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:190084000-190087200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:190084200-190087200	Weak transcription	Pancreas	Pancrea
16	chr2:190084800-190088600	Enhancers	Hela-S3	cervix
17	chr2:190085600-190087000	Flanking Active TSS	A549	lung
18	chr2:190085800-190087200	Enhancers	HUVEC	blood vessel
19	chr2:190085800-190087600	Enhancers	HMEC	breast
20	chr2:190085800-190087600	Enhancers	NHEK	skin
21	chr2:190086000-190087600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:190086000-190087600	Enhancers	Fetal Intestine Large	intestine
23	chr2:190086000-190087600	Enhancers	Stomach Mucosa	stomach
24	chr2:190086000-190087600	Enhancers	NHDF-Ad	bronchial
25	chr2:190086000-190087800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:190086000-190088200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:190086200-190087400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr2:190086200-190087600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:190086200-190087600	Enhancers	HSMM	muscle
30	chr2:190086200-190087800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:190086200-190087800	Enhancers	Osteobl	bone
32	chr2:190086200-190088200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:190086400-190087400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:190086400-190087600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:190086400-190087600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:190086400-190087800	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:190086600-190087000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:190086600-190087000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:190086600-190087600	Enhancers	Fetal Stomach	stomach
40	chr2:190086600-190087600	Enhancers	Rectal Mucosa Donor 31	rectum

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