Variant report

Variant	rs28497144
Chromosome Location	chr5:107713922-107713923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107705544..107707049-chr5:107712715..107714654,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10036343	0.90[EUR][1000 genomes]
rs10041907	0.90[EUR][1000 genomes]
rs10063449	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10071595	0.90[EUR][1000 genomes]
rs10072270	0.92[EUR][1000 genomes]
rs10075907	0.87[EUR][1000 genomes]
rs11743651	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11744374	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13178456	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1849011	0.86[EUR][1000 genomes]
rs2029104	0.88[EUR][1000 genomes]
rs2044709	0.83[EUR][1000 genomes]
rs2044710	0.87[EUR][1000 genomes]
rs2112306	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2122158	0.88[EUR][1000 genomes]
rs2167001	0.88[EUR][1000 genomes]
rs2416188	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2922423	0.87[EUR][1000 genomes]
rs2922424	0.88[EUR][1000 genomes]
rs2922426	0.88[EUR][1000 genomes]
rs2922427	0.88[EUR][1000 genomes]
rs2922428	0.88[EUR][1000 genomes]
rs2922429	0.88[EUR][1000 genomes]
rs2922430	0.80[EUR][1000 genomes]
rs2922433	0.85[EUR][1000 genomes]
rs2966795	0.88[EUR][1000 genomes]
rs2966797	0.88[EUR][1000 genomes]
rs2966799	0.88[EUR][1000 genomes]
rs34298471	0.90[EUR][1000 genomes]
rs4541643	0.90[EUR][1000 genomes]
rs4957553	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4957751	0.89[EUR][1000 genomes]
rs4957753	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55896795	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57222565	0.90[EUR][1000 genomes]
rs6596777	0.86[EUR][1000 genomes]
rs6875297	0.94[EUR][1000 genomes]
rs7708996	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7717747	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7726298	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9326725	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs962680	0.87[EUR][1000 genomes]
rs989001	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882688	chr5:107595383-107715746	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107697200-107715200	Weak transcription	HSMM	muscle
2	chr5:107698200-107715600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:107706400-107714200	Weak transcription	Left Ventricle	heart
4	chr5:107708600-107716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:107709600-107714200	Weak transcription	Gastric	stomach
6	chr5:107709600-107715600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:107709600-107715600	Weak transcription	Thymus	Thymus
8	chr5:107709600-107716000	Weak transcription	Ovary	ovary
9	chr5:107709800-107715200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:107710000-107715600	Weak transcription	HSMMtube	muscle
11	chr5:107710200-107714400	Weak transcription	Primary T cells from cord blood	blood
12	chr5:107711000-107715600	Weak transcription	Fetal Thymus	thymus
13	chr5:107711400-107714200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:107711400-107715600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:107711600-107714200	Weak transcription	Psoas Muscle	Psoas
16	chr5:107711600-107715200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:107711800-107714200	Weak transcription	Small Intestine	intestine
18	chr5:107711800-107714800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:107712000-107714600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:107712000-107715000	Weak transcription	Fetal Lung	lung
21	chr5:107712000-107715400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:107712200-107714000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:107712200-107714400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:107712200-107715000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:107712200-107715000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:107712200-107715000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:107712200-107715600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:107712400-107714800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:107712400-107715400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:107712800-107714000	Enhancers	Fetal Heart	heart
31	chr5:107713000-107714200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:107713000-107715000	Weak transcription	Primary B cells from cord blood	blood
33	chr5:107713200-107714200	Weak transcription	Right Ventricle	heart
34	chr5:107713200-107714400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:107713200-107714600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:107713200-107715200	Weak transcription	A549	lung
37	chr5:107713400-107714200	Weak transcription	GM12878-XiMat	blood
38	chr5:107713400-107714400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:107713600-107714000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:107713800-107714000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr5:107713800-107714800	Enhancers	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links