Variant report

Variant	rs17339831
Chromosome Location	chr5:142744092-142744093
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142692596..142694749-chr5:142742836..142745085,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10052957	0.88[GIH][hapmap]
rs10076665	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10482605	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10482633	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10482642	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10482682	1.00[ASW][hapmap];0.86[LWK][hapmap];0.92[YRI][hapmap]
rs10482689	1.00[ASW][hapmap];0.81[CEU][hapmap];0.96[GIH][hapmap];0.89[MEX][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10482700	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10515521	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11740747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11740792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1438731	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17287758	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1837262	0.88[GIH][hapmap]
rs1866388	0.88[GIH][hapmap]
rs258750	0.88[GIH][hapmap]
rs258753	0.82[GIH][hapmap]
rs258813	0.81[GIH][hapmap]
rs2918416	0.88[GIH][hapmap]
rs2918417	0.88[GIH][hapmap]
rs2963149	0.88[GIH][hapmap]
rs4128428	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58581074	1.00[ASN][1000 genomes]
rs6188	0.88[GIH][hapmap]
rs6198	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72801052	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72801070	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72801079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801086	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72801088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs852977	0.85[GIH][hapmap]
rs852982	0.85[GIH][hapmap]
rs860457	0.85[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142693800-142747400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:142725000-142764200	Weak transcription	Lung	lung
3	chr5:142734000-142756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:142734200-142754200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:142735600-142756000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:142735800-142748200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:142735800-142751200	Weak transcription	HMEC	breast
8	chr5:142735800-142751800	Weak transcription	NHEK	skin
9	chr5:142736200-142746200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:142736200-142748200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:142736200-142755800	Weak transcription	Small Intestine	intestine
12	chr5:142736200-142756000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:142736800-142746800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:142737000-142745200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:142739400-142763600	Weak transcription	Thymus	Thymus
16	chr5:142739600-142754200	Weak transcription	Fetal Thymus	thymus
17	chr5:142740600-142752600	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:142740600-142755800	Weak transcription	Right Ventricle	heart
19	chr5:142740800-142745200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:142740800-142747200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:142740800-142752600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:142741200-142748800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:142741400-142751400	Weak transcription	Hela-S3	cervix
24	chr5:142741400-142757000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr5:142741600-142771600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:142741800-142749000	Weak transcription	Liver	Liver
27	chr5:142742000-142753600	Weak transcription	Osteobl	bone
28	chr5:142742400-142744200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:142742400-142745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:142742400-142749000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:142742600-142745200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:142742600-142748400	Weak transcription	Spleen	Spleen
33	chr5:142742600-142756200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:142742600-142762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:142742800-142748400	Weak transcription	Left Ventricle	heart
36	chr5:142742800-142755800	Weak transcription	Right Atrium	heart
37	chr5:142742800-142758800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:142743000-142745200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:142743000-142756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:142743200-142748400	Weak transcription	Psoas Muscle	Psoas
41	chr5:142743200-142764200	Weak transcription	HepG2	liver
42	chr5:142743400-142744200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:142743400-142744200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:142743400-142744400	ZNF genes & repeats	Fetal Lung	lung
45	chr5:142743400-142745600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:142743400-142749000	ZNF genes & repeats	GM12878-XiMat	blood
47	chr5:142743600-142744200	Strong transcription	HSMM	muscle
48	chr5:142743600-142744400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:142743600-142744800	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr5:142743600-142744800	ZNF genes & repeats	A549	lung

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