Variant report

Variant	rs727675
Chromosome Location	chr14:31733642-31733643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31731560..31733729-chr14:31736950..31739890,3	K562	blood:
2	chr14:31732131..31735050-chr14:31739245..31741338,2	K562	blood:
3	chr14:31675532..31678117-chr14:31730710..31734144,6	MCF-7	breast:
4	chr14:31673985..31677853-chr14:31730006..31735257,8	MCF-7	breast:
5	chr14:31674477..31677310-chr14:31731984..31734716,2	K562	blood:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10135213	0.82[EUR][1000 genomes]
rs10138200	0.82[EUR][1000 genomes]
rs10151563	0.82[EUR][1000 genomes]
rs1041088	0.87[MEX][hapmap];0.82[EUR][1000 genomes]
rs10872849	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11156660	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11156661	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12588620	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12889162	0.82[EUR][1000 genomes]
rs1812760	0.92[ASN][1000 genomes]
rs2378848	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5024655	0.82[EUR][1000 genomes]
rs61995523	0.81[EUR][1000 genomes]
rs6571403	0.82[EUR][1000 genomes]
rs6571404	0.82[EUR][1000 genomes]
rs7146274	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7147686	0.89[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156178	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7493691	0.91[ASN][1000 genomes]
rs7494025	0.82[EUR][1000 genomes]
rs9788563	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31726400-31736000	Enhancers	Liver	Liver
2	chr14:31727200-31735000	Weak transcription	Gastric	stomach
3	chr14:31729400-31736200	Enhancers	Stomach Mucosa	stomach
4	chr14:31730400-31735800	Enhancers	NHLF	lung
5	chr14:31730600-31733800	Enhancers	Fetal Lung	lung
6	chr14:31730600-31734000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:31730600-31734200	Enhancers	Hela-S3	cervix
8	chr14:31730800-31734000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:31731000-31733800	Enhancers	Osteobl	bone
10	chr14:31731000-31734000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr14:31731000-31734000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr14:31731000-31734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:31731000-31735400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:31731000-31735600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:31731000-31735800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:31731000-31735800	Enhancers	HMEC	breast
17	chr14:31731000-31736000	Enhancers	NHEK	skin
18	chr14:31731400-31733800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr14:31731400-31735200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr14:31731600-31734000	Enhancers	HUVEC	blood vessel
21	chr14:31731600-31735000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:31731600-31735000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:31731800-31734000	Enhancers	Colon Smooth Muscle	Colon
24	chr14:31732200-31733800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:31732200-31734800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:31732200-31735000	Weak transcription	Brain Anterior Caudate	brain
27	chr14:31732200-31735000	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:31732200-31735200	Weak transcription	Fetal Kidney	kidney
29	chr14:31732200-31736000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:31732600-31736000	Enhancers	Fetal Intestine Large	intestine
31	chr14:31732800-31733800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:31732800-31733800	Enhancers	Stomach Smooth Muscle	stomach
33	chr14:31732800-31734000	Enhancers	Ovary	ovary
34	chr14:31732800-31735600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:31732800-31736000	Enhancers	Fetal Intestine Small	intestine
36	chr14:31733000-31733800	Flanking Active TSS	HepG2	liver
37	chr14:31733000-31733800	Enhancers	HSMM	muscle
38	chr14:31733000-31734000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:31733000-31734600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr14:31733200-31733800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:31733200-31734000	Enhancers	Small Intestine	intestine
42	chr14:31733200-31735200	Weak transcription	Right Atrium	heart
43	chr14:31733200-31735400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr14:31733400-31734000	Enhancers	A549	lung
45	chr14:31733400-31734400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:31733400-31734800	Weak transcription	K562	blood
47	chr14:31733400-31735000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr14:31733400-31736200	Enhancers	NHDF-Ad	bronchial
49	chr14:31733400-31737000	Weak transcription	HSMMtube	muscle
50	chr14:31733400-31739400	Weak transcription	Esophagus	oesophagus

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