Variant report

Variant	rs2625175
Chromosome Location	chr5:16900757-16900758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16876341..16879051-chr5:16898950..16901260,2	MCF-7	breast:
2	chr5:16899974..16902321-chr5:16904564..16907062,3	MCF-7	breast:
3	chr5:16892933..16897070-chr5:16897498..16901971,5	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs253483	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs253484	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs253485	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2560842	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2560843	0.86[ASN][1000 genomes]
rs2560844	0.86[ASN][1000 genomes]
rs2560846	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560848	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2560850	0.86[AMR][1000 genomes]
rs2562343	0.86[AMR][1000 genomes]
rs2562347	0.85[AMR][1000 genomes]
rs2562350	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2562352	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2562353	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562354	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2562356	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2562357	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2562358	0.85[ASN][1000 genomes]
rs2625172	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2625174	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62371016	0.83[AMR][1000 genomes];0.84[EUR][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	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	nsv1034844	chr5:16854341-16903100	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	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
7	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16895000-16903000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr5:16895600-16902000	Enhancers	Hela-S3	cervix
3	chr5:16896000-16901200	Weak transcription	Spleen	Spleen
4	chr5:16896000-16912400	Weak transcription	Esophagus	oesophagus
5	chr5:16896400-16901200	Weak transcription	Left Ventricle	heart
6	chr5:16897000-16901200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:16897000-16902800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:16897600-16902000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:16898000-16901800	Weak transcription	HSMMtube	muscle
10	chr5:16898000-16902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:16898000-16902800	Weak transcription	HSMM	muscle
12	chr5:16898200-16901200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:16898200-16901200	Weak transcription	Gastric	stomach
14	chr5:16898200-16901200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:16898200-16901400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:16898200-16901400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:16898200-16901600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:16898200-16901600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:16898200-16902600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:16898200-16902800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:16898200-16903000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:16898200-16903400	Weak transcription	Placenta	Placenta
23	chr5:16898200-16903800	Weak transcription	Osteobl	bone
24	chr5:16898200-16904000	Weak transcription	NHLF	lung
25	chr5:16898200-16906200	Weak transcription	Psoas Muscle	Psoas
26	chr5:16898200-16912600	Weak transcription	NH-A	brain
27	chr5:16898400-16901200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:16898400-16901200	Weak transcription	Fetal Intestine Large	intestine
29	chr5:16898400-16901200	Weak transcription	Fetal Lung	lung
30	chr5:16898400-16901200	Weak transcription	Lung	lung
31	chr5:16898400-16901200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:16898400-16901400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:16898400-16903000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:16898400-16903000	Weak transcription	Fetal Stomach	stomach
35	chr5:16898400-16903000	Weak transcription	Ovary	ovary
36	chr5:16898400-16903800	Weak transcription	Small Intestine	intestine
37	chr5:16898400-16904600	Weak transcription	Fetal Intestine Small	intestine
38	chr5:16898800-16901200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:16899000-16901200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:16899200-16902000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:16899400-16902200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:16899400-16907000	Enhancers	Pancreas	Pancrea
43	chr5:16899600-16902000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr5:16899600-16902000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:16899800-16905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:16899800-16910000	Weak transcription	HUVEC	blood vessel
47	chr5:16899800-16910800	Weak transcription	HMEC	breast
48	chr5:16900000-16900800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:16900000-16901400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:16900000-16901400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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