Variant report

Variant	rs2914152
Chromosome Location	chr5:112895674-112895675
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10037429	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072577	1.00[ASN][1000 genomes]
rs1035409	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11739848	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11744737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11745445	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746529	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11746565	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11747062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11948413	0.80[YRI][hapmap]
rs11950791	0.94[YRI][hapmap]
rs11953034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11955591	1.00[YRI][hapmap]
rs13153791	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160021	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13161610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161969	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162970	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs13166822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167659	1.00[ASN][1000 genomes]
rs13170908	0.91[ASN][1000 genomes]
rs13171273	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171389	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13172774	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13180262	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13182359	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs1318772	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13187776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs17327139	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17332053	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17333442	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs182988	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs255857	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26962	1.00[CEU][hapmap]
rs26965	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26980	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26982	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26984	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs26989	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26990	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2860483	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2910017	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34158516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34161832	0.85[AFR][1000 genomes]
rs34554590	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348921	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348922	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348923	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs348934	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35077609	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35274088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35364742	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36611	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs36613	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3763141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs414475	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs419483	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs421515	0.82[ASN][1000 genomes]
rs4398627	0.83[YRI][hapmap]
rs4410636	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs446272	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs458055	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs461034	1.00[YRI][hapmap]
rs4705554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58479323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59007160	0.81[AFR][1000 genomes]
rs59757131	0.86[AFR][1000 genomes]
rs6594727	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66838021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67382821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67881502	0.91[ASN][1000 genomes]
rs68131815	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71577453	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705255	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7729214	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7736165	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv882722	chr5:112868878-112899573	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882723	chr5:112868878-112911165	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
2	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
3	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
5	chr5:112867200-112903400	Weak transcription	Pancreas	Pancrea
6	chr5:112867200-112904000	Weak transcription	Lung	lung
7	chr5:112867200-112904200	Weak transcription	Aorta	Aorta
8	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
11	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
12	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:112869200-112910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:112872000-112904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
18	chr5:112873000-112900600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:112873400-112908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:112874000-112909600	Weak transcription	Spleen	Spleen
21	chr5:112874400-112902600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:112877200-112905800	Weak transcription	Fetal Stomach	stomach
24	chr5:112879600-112902800	Weak transcription	Thymus	Thymus
25	chr5:112879600-112904200	Weak transcription	Gastric	stomach
26	chr5:112881800-112906400	Weak transcription	Fetal Intestine Small	intestine
27	chr5:112882600-112904000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:112882800-112909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:112883000-112899600	Weak transcription	Brain Angular Gyrus	brain
30	chr5:112883000-112903200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:112883200-112896400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:112883800-112907400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:112884200-112905200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:112884200-112905600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:112884200-112908000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:112884800-112896800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:112885400-112897800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:112885800-112896000	Weak transcription	K562	blood
39	chr5:112886000-112902400	Weak transcription	NHLF	lung
40	chr5:112886600-112911200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr5:112887800-112904400	Strong transcription	Fetal Intestine Large	intestine
42	chr5:112888000-112908200	Strong transcription	Liver	Liver
43	chr5:112888600-112898000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:112888600-112901400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:112888800-112908400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:112889600-112898200	Weak transcription	HepG2	liver
48	chr5:112889600-112904000	Weak transcription	Fetal Heart	heart
49	chr5:112889800-112897600	Weak transcription	Ovary	ovary
50	chr5:112889800-112898000	Weak transcription	Primary hematopoietic stem cells	blood

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