Variant report

Variant	rs247134
Chromosome Location	chr5:14337460-14337461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs154150	0.85[CEU][hapmap]
rs154152	0.84[EUR][1000 genomes]
rs154153	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs154154	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs154155	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs154161	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs165083	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1664507	0.88[EUR][1000 genomes]
rs16903338	0.85[CEU][hapmap]
rs187432	0.83[ASN][1000 genomes]
rs247139	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs247140	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs247141	0.95[CHB][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs247142	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247143	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247144	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs247145	0.82[ASN][1000 genomes]
rs256417	0.88[EUR][1000 genomes]
rs256423	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs30618	1.00[YRI][hapmap]
rs30622	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs30623	0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs30624	0.81[JPT][hapmap]
rs30633	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs30634	0.84[ASN][1000 genomes]
rs30769	0.84[EUR][1000 genomes]
rs30770	0.84[EUR][1000 genomes]
rs30771	0.84[EUR][1000 genomes]
rs30782	0.88[EUR][1000 genomes]
rs30783	0.95[CEU][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs30784	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs30792	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs39857	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40275	0.91[ASN][1000 genomes]
rs409214	0.88[EUR][1000 genomes]
rs40971	0.82[ASN][1000 genomes]
rs415341	0.83[EUR][1000 genomes]
rs42203	0.80[ASN][1000 genomes]
rs42204	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs42259	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs42405	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs42407	0.92[EUR][1000 genomes]
rs42551	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7380307	1.00[YRI][hapmap]
rs7700787	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14310400-14342000	Weak transcription	Stomach Mucosa	stomach
3	chr5:14310600-14344600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14313800-14337600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:14314200-14342200	Weak transcription	Small Intestine	intestine
6	chr5:14314600-14338200	Strong transcription	HSMM	muscle
7	chr5:14314800-14342200	Strong transcription	Osteobl	bone
8	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:14321600-14340200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:14323600-14342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:14323800-14339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:14326600-14342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:14326800-14346400	Weak transcription	Fetal Kidney	kidney
14	chr5:14328000-14338800	Strong transcription	NHLF	lung
15	chr5:14328000-14339200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:14328000-14344400	Strong transcription	HMEC	breast
17	chr5:14328200-14338800	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr5:14328200-14342200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:14328400-14338200	Strong transcription	NH-A	brain
20	chr5:14329800-14340200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:14330000-14339600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:14330400-14338600	Strong transcription	HUVEC	blood vessel
23	chr5:14330400-14340000	Strong transcription	Liver	Liver
24	chr5:14330600-14344600	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr5:14330600-14345000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr5:14330800-14339800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr5:14330800-14340000	Strong transcription	HepG2	liver
28	chr5:14330800-14341600	Strong transcription	Placenta	Placenta
29	chr5:14330800-14343400	Strong transcription	Fetal Muscle Leg	muscle
30	chr5:14331000-14340200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:14331000-14341800	Strong transcription	Fetal Intestine Large	intestine
32	chr5:14331000-14348000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:14331400-14350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:14331600-14341200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:14331600-14342000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:14332200-14337600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:14332200-14341800	Strong transcription	GM12878-XiMat	blood
38	chr5:14332400-14337600	Strong transcription	Adipose Nuclei	Adipose
39	chr5:14332400-14338200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:14332400-14340000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:14332600-14344400	Strong transcription	NHEK	skin
42	chr5:14332800-14338200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:14332800-14338200	Strong transcription	Hela-S3	cervix
44	chr5:14332800-14339800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:14332800-14340000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:14332800-14340000	Strong transcription	Fetal Stomach	stomach
47	chr5:14333000-14337600	Strong transcription	Lung	lung
48	chr5:14333000-14338800	Strong transcription	Esophagus	oesophagus
49	chr5:14333000-14340000	Strong transcription	Fetal Intestine Small	intestine
50	chr5:14333000-14343400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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