Variant report

Variant	rs337253
Chromosome Location	chr5:68423069-68423070
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68416264..68417845-chr5:68422518..68425156,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10056618	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163191	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.94[ASN][1000 genomes]
rs163192	1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs163193	0.94[ASN][1000 genomes]
rs163194	0.92[ASN][1000 genomes]
rs164391	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs164394	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164396	0.92[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164572	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164577	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164578	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs164579	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164580	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs164581	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs164710	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs164712	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs186790	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs187043	0.92[ASN][1000 genomes]
rs234262	0.83[AMR][1000 genomes]
rs240809	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447794	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs337256	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs337259	0.94[ASN][1000 genomes]
rs337262	0.94[ASN][1000 genomes]
rs338668	1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs338678	0.94[ASN][1000 genomes]
rs350110	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs350111	0.92[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350112	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351432	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs351444	0.84[CHD][hapmap]
rs420228	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs454828	0.95[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs570884	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688674	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9291940	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv881766	chr5:68401941-68448694	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68391400-68428800	Weak transcription	Stomach Mucosa	stomach
2	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:68392200-68427000	Weak transcription	Fetal Heart	heart
4	chr5:68395000-68428400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:68397400-68425000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:68397400-68426400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:68397600-68425000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:68398600-68427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:68398800-68426000	Strong transcription	Adipose Nuclei	Adipose
10	chr5:68399000-68424600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:68399000-68425600	Strong transcription	Fetal Thymus	thymus
12	chr5:68399000-68428200	Strong transcription	Placenta	Placenta
13	chr5:68400200-68431200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:68402600-68429600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr5:68402800-68427400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr5:68403000-68425600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:68403600-68426400	Weak transcription	Small Intestine	intestine
18	chr5:68406000-68427400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:68406000-68430000	Strong transcription	Liver	Liver
20	chr5:68406200-68425400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:68406200-68438400	Weak transcription	Aorta	Aorta
22	chr5:68406400-68431600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:68407400-68425600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:68407600-68423800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:68407800-68425800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:68408200-68426400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:68408200-68426600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:68408400-68425800	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr5:68409600-68427600	Strong transcription	Fetal Intestine Large	intestine
30	chr5:68410400-68431800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:68412400-68424800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:68412400-68434600	Weak transcription	Psoas Muscle	Psoas
33	chr5:68412800-68428800	Weak transcription	Colonic Mucosa	Colon
34	chr5:68413200-68424600	Weak transcription	NHLF	lung
35	chr5:68414200-68426400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:68414200-68427400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:68414400-68425400	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr5:68414400-68425600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:68414600-68424800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:68414800-68425400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr5:68414800-68425600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:68415400-68425000	Weak transcription	NHEK	skin
43	chr5:68415600-68431400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:68416400-68426400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:68416400-68445000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:68416600-68424800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:68416800-68426000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr5:68417200-68425600	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:68417200-68427400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:68418000-68425000	Weak transcription	Muscle Satellite Cultured Cells	--

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