Variant report

Variant	rs293746
Chromosome Location	chr5:36895270-36895271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36881365..36883410-chr5:36892096..36895669,3	K562	blood:
2	chr5:36894674..36897624-chr5:36903658..36906079,2	K562	blood:
3	chr5:36874693..36876712-chr5:36894953..36896945,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12656269	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12659960	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12659981	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12659983	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13183090	0.87[ASN][1000 genomes]
rs151945	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151946	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151947	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs158410	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158411	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs158412	0.94[ASN][1000 genomes]
rs158792	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158793	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158794	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158797	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158798	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158799	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158802	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs159140	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159141	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs167146	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16903459	0.87[ASN][1000 genomes]
rs181755	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2133786	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs245587	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245588	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs292160	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs292179	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs292180	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs292181	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292186	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292196	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs293748	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs293774	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs294695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34701667	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34920909	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35011787	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35135658	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35263618	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35701604	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35899185	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468022	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56261529	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58952013	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59889951	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66868318	0.86[EUR][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36880000-36897400	Weak transcription	NHLF	lung
2	chr5:36880400-36897800	Weak transcription	HUVEC	blood vessel
3	chr5:36881000-36899800	Weak transcription	Brain Substantia Nigra	brain
4	chr5:36881000-36900600	Weak transcription	Osteobl	bone
5	chr5:36881200-36900400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:36881400-36897400	Weak transcription	NHDF-Ad	bronchial
7	chr5:36881800-36895400	Weak transcription	Fetal Kidney	kidney
8	chr5:36882400-36899800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:36884600-36897200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:36885000-36899200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:36886200-36897600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:36886200-36899000	Weak transcription	Fetal Thymus	thymus
13	chr5:36886400-36896600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:36886400-36897600	Weak transcription	A549	lung
15	chr5:36886400-36898200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:36886400-36900400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:36886400-36904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:36886600-36896800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:36886600-36896800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:36886600-36897200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:36886600-36898600	Weak transcription	Esophagus	oesophagus
22	chr5:36886600-36898600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:36886600-36899800	Weak transcription	Brain Angular Gyrus	brain
24	chr5:36886600-36904800	Weak transcription	Right Ventricle	heart
25	chr5:36886600-36909200	Weak transcription	Left Ventricle	heart
26	chr5:36886600-36910400	Weak transcription	Ovary	ovary
27	chr5:36888000-36897000	Weak transcription	Thymus	Thymus
28	chr5:36888200-36897800	Weak transcription	Hela-S3	cervix
29	chr5:36888200-36902400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:36888200-36910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:36888400-36897400	Weak transcription	Fetal Heart	heart
32	chr5:36888400-36897800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:36888600-36899800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:36888800-36899200	Weak transcription	Adipose Nuclei	Adipose
35	chr5:36888800-36911000	Weak transcription	Fetal Lung	lung
36	chr5:36889400-36895400	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:36889600-36897800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr5:36889600-36901200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:36892200-36897400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:36892200-36897600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:36892200-36901600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:36892400-36897400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:36893200-36896400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr5:36893600-36895400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:36893600-36895400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr5:36893600-36896000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr5:36893600-36897800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:36894600-36896000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:36894600-36900000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr5:36894800-36896000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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