Variant report

Variant	rs283932
Chromosome Location	chr3:17364413-17364414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11128821	0.94[YRI][hapmap]
rs11915588	1.00[YRI][hapmap]
rs11922177	1.00[YRI][hapmap]
rs1446300	0.80[CEU][hapmap];0.80[JPT][hapmap]
rs17043444	0.81[AFR][1000 genomes]
rs17043453	0.81[AFR][1000 genomes]
rs17043589	1.00[YRI][hapmap]
rs17043618	1.00[YRI][hapmap]
rs1992736	0.82[CEU][hapmap]
rs2044448	0.81[CEU][hapmap]
rs4627740	1.00[YRI][hapmap]
rs56660137	0.81[AFR][1000 genomes]
rs6767839	1.00[YRI][hapmap]
rs6768716	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6778109	1.00[YRI][hapmap]
rs73145808	0.81[AFR][1000 genomes]
rs73145814	0.81[AFR][1000 genomes]
rs73145819	0.81[AFR][1000 genomes]
rs73145825	0.81[AFR][1000 genomes]
rs73145856	0.81[AFR][1000 genomes]
rs7618836	0.83[YRI][hapmap]
rs7634642	1.00[YRI][hapmap]
rs921052	0.88[JPT][hapmap]
rs9713431	0.83[YRI][hapmap]
rs9868647	0.91[CEU][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876590	chr3:17230884-17604963	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2755406	chr3:17237396-17589896	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv876591	chr3:17246392-17671992	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv869378	chr3:17338236-17576692	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv915606	chr3:17357042-17668263	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv999568	chr3:17360261-17594750	Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv999460	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv536510	chr3:17360261-17720103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr3:17298800-17373000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:17330800-17381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr3:17333400-17372000	Weak transcription	Liver	Liver
4	chr3:17333400-17376000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:17339400-17442200	Weak transcription	Fetal Intestine Small	intestine
6	chr3:17344400-17439000	Weak transcription	Aorta	Aorta
7	chr3:17352000-17377600	Weak transcription	Dnd41	blood
8	chr3:17352200-17370800	Weak transcription	Fetal Lung	lung
9	chr3:17354800-17381600	Weak transcription	Ovary	ovary
10	chr3:17356200-17412800	Weak transcription	Left Ventricle	heart
11	chr3:17356800-17390000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:17358000-17377600	Weak transcription	Adipose Nuclei	Adipose
13	chr3:17362000-17376200	Weak transcription	Fetal Kidney	kidney
14	chr3:17362800-17382200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:17363200-17365000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:17363200-17365200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:17363400-17365000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:17363400-17365000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:17363400-17365600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:17363600-17364800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr3:17363600-17364800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr3:17363600-17364800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr3:17363600-17366200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr3:17363800-17364600	Enhancers	Primary B cells from peripheral blood	blood
25	chr3:17363800-17364800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:17363800-17364800	Flanking Active TSS	GM12878-XiMat	blood
27	chr3:17363800-17365000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr3:17363800-17365400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr3:17364000-17364800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:17364000-17364800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr3:17364000-17364800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr3:17364000-17364800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:17364000-17364800	Enhancers	Thymus	Thymus
34	chr3:17364000-17364800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr3:17364200-17364600	Enhancers	Fetal Heart	heart
36	chr3:17364400-17364600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr3:17364400-17364600	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr3:17364400-17364600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:17364400-17364600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:17364400-17365600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:17364400-17366800	Weak transcription	Primary B cells from cord blood	blood

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