Variant report

Variant	rs2198712
Chromosome Location	chr5:114713171-114713172
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114712822..114713353-chr5:114921928..114922705,2	MCF-7	breast:
2	chr5:114711869..114714907-chr5:114878578..114880723,3	MCF-7	breast:
3	chr5:114712072..114714398-chr5:114878860..114881275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10477531	0.89[CEU][hapmap];0.84[EUR][1000 genomes]
rs11241322	0.96[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11740600	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11745205	0.88[EUR][1000 genomes]
rs13162208	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17137667	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17137708	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17383865	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2016888	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2925170	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2925172	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs2963747	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2963749	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2963758	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs35389100	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6887728	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs751485	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7714928	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs897478	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882731	chr5:114702503-114721081	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv882732	chr5:114702503-114722599	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv882733	chr5:114702503-114726351	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3470654	chr5:114706116-114721234	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3470655	chr5:114706116-114721234	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv1025594	chr5:114706443-114721081	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv441963	chr5:114706443-114721085	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	esv34270	chr5:114709101-114721101	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv34634	chr5:114709137-114723044	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	esv34713	chr5:114709137-114723044	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
2	chr5:114702000-114717800	Weak transcription	Right Atrium	heart
3	chr5:114706400-114713200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:114708200-114713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:114708200-114713600	Weak transcription	Psoas Muscle	Psoas
6	chr5:114708200-114720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:114710600-114713200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:114710800-114713200	Enhancers	Hela-S3	cervix
9	chr5:114711400-114713600	Enhancers	Fetal Heart	heart
10	chr5:114711400-114714600	Enhancers	Fetal Muscle Leg	muscle
11	chr5:114711600-114713200	Enhancers	HSMM	muscle
12	chr5:114711600-114713800	Enhancers	Adipose Nuclei	Adipose
13	chr5:114711800-114713200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:114712000-114713200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:114712000-114713200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:114712000-114713200	Weak transcription	Stomach Mucosa	stomach
17	chr5:114712000-114713600	Weak transcription	Left Ventricle	heart
18	chr5:114712200-114713200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:114712200-114713400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:114712400-114713600	Weak transcription	Fetal Intestine Small	intestine
21	chr5:114712800-114713200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:114712800-114713200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:114712800-114713200	Enhancers	HSMMtube	muscle
24	chr5:114712800-114713200	Enhancers	NHLF	lung
25	chr5:114712800-114713200	Enhancers	Osteobl	bone
26	chr5:114712800-114713800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:114712800-114713800	Active TSS	Stomach Smooth Muscle	stomach
28	chr5:114712800-114714000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:114712800-114714000	Enhancers	Fetal Intestine Large	intestine
30	chr5:114712800-114714200	Enhancers	NHEK	skin
31	chr5:114712800-114715400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr5:114712800-114717400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:114713000-114713200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:114713000-114713200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:114713000-114713200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:114713000-114713200	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr5:114713000-114713200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:114713000-114713200	Enhancers	Duodenum Mucosa	Duodenum
39	chr5:114713000-114713200	Enhancers	NH-A	brain
40	chr5:114713000-114713400	Weak transcription	Small Intestine	intestine
41	chr5:114713000-114713400	Flanking Active TSS	NHDF-Ad	bronchial
42	chr5:114713000-114713800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr5:114713000-114713800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:114713000-114713800	Enhancers	HMEC	breast
45	chr5:114713000-114716200	Enhancers	GM12878-XiMat	blood

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