Variant report

Variant	rs31456
Chromosome Location	chr5:16931377-16931378
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	chr5:16843726..16846155-chr5:16931255..16933740,2	MCF-7	breast:
2	chr5:16930256..16932203-chr5:16934873..16936431,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10068690	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs31457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31458	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31459	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31461	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31462	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31463	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73066810	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16904400-16933200	Weak transcription	Fetal Stomach	stomach
2	chr5:16914000-16931600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:16914000-16933200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:16914600-16934400	Weak transcription	Psoas Muscle	Psoas
5	chr5:16919200-16931600	Weak transcription	HMEC	breast
6	chr5:16922000-16931400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:16922000-16931600	Weak transcription	Osteobl	bone
8	chr5:16923200-16932400	Weak transcription	Gastric	stomach
9	chr5:16924600-16931600	Weak transcription	Fetal Intestine Small	intestine
10	chr5:16926200-16933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:16928200-16931600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:16929600-16933400	Enhancers	Stomach Mucosa	stomach
13	chr5:16929600-16933600	Enhancers	Pancreas	Pancrea
14	chr5:16929800-16933200	Enhancers	Fetal Lung	lung
15	chr5:16929800-16933800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:16930000-16931600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:16930000-16931600	Enhancers	HUVEC	blood vessel
18	chr5:16930200-16931600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:16930200-16931800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:16930200-16932600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:16930200-16932800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:16930200-16932800	Enhancers	NHDF-Ad	bronchial
23	chr5:16930200-16933400	Enhancers	Ovary	ovary
24	chr5:16930200-16934000	Enhancers	Fetal Intestine Large	intestine
25	chr5:16930200-16934000	Enhancers	Fetal Muscle Leg	muscle
26	chr5:16930400-16931400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:16930400-16931600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:16930400-16931600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:16930400-16931800	Enhancers	HSMMtube	muscle
30	chr5:16930400-16931800	Genic enhancers	NHEK	skin
31	chr5:16930400-16933000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:16930400-16933000	Enhancers	HSMM	muscle
33	chr5:16930400-16933200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:16930400-16933200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:16930600-16931400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:16930600-16931800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr5:16930600-16931800	Enhancers	Spleen	Spleen
38	chr5:16930600-16932000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:16930600-16932000	Enhancers	Small Intestine	intestine
40	chr5:16930600-16932200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:16930600-16932400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:16930600-16932400	Enhancers	NH-A	brain
43	chr5:16930600-16932400	Enhancers	NHLF	lung
44	chr5:16930600-16932600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:16930600-16932600	Enhancers	Duodenum Mucosa	Duodenum
46	chr5:16930800-16931400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:16930800-16931800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:16930800-16931800	Enhancers	Esophagus	oesophagus
49	chr5:16930800-16931800	Enhancers	Fetal Muscle Trunk	muscle
50	chr5:16930800-16931800	Enhancers	Placenta	Placenta

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