Variant report

Variant	rs17319679
Chromosome Location	chr4:106164980-106164981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12499227	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12508009	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12511847	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17430132	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17430146	0.88[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17430167	1.00[ASW][hapmap];0.88[CEU][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17508289	0.88[CEU][hapmap];1.00[GIH][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2214407	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2214408	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2866773	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4698933	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4699158	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4699161	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4699164	0.88[CEU][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap]
rs4699166	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55855666	1.00[AFR][1000 genomes]
rs59444136	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7441095	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7698522	0.88[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap]

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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879698	chr4:106155751-106309224	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106113600-106173800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:106113600-106195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:106142000-106190800	Weak transcription	Small Intestine	intestine
4	chr4:106145600-106167400	Weak transcription	NHDF-Ad	bronchial
5	chr4:106148000-106192800	Weak transcription	Psoas Muscle	Psoas
6	chr4:106150200-106191400	Weak transcription	HUVEC	blood vessel
7	chr4:106154000-106166200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:106154000-106198800	Weak transcription	Hela-S3	cervix
9	chr4:106155000-106166400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:106155000-106168800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:106155000-106169000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr4:106155000-106176600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr4:106155800-106167800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:106156400-106168600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:106156600-106180800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:106156800-106190800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:106156800-106196200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:106157000-106186000	Weak transcription	NH-A	brain
19	chr4:106157000-106190400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:106157400-106166600	Weak transcription	Spleen	Spleen
21	chr4:106157400-106193600	Weak transcription	Colonic Mucosa	Colon
22	chr4:106157800-106190600	Weak transcription	NHLF	lung
23	chr4:106158000-106167200	Weak transcription	Osteobl	bone
24	chr4:106158000-106180800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:106158200-106167200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:106158200-106171600	Weak transcription	Fetal Stomach	stomach
27	chr4:106158200-106171800	Weak transcription	Esophagus	oesophagus
28	chr4:106158200-106173000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:106158200-106186600	Weak transcription	Stomach Mucosa	stomach
30	chr4:106158200-106190600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:106158200-106190600	Weak transcription	NHEK	skin
32	chr4:106158200-106190800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:106158200-106190800	Weak transcription	Pancreas	Pancrea
34	chr4:106158200-106190800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:106158200-106190800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:106158400-106167200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:106158400-106167200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:106158400-106167200	Weak transcription	Right Ventricle	heart
39	chr4:106158400-106167800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:106158400-106171600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:106158400-106173200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:106158400-106190000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:106158400-106190800	Weak transcription	Gastric	stomach
44	chr4:106158400-106190800	Weak transcription	Lung	lung
45	chr4:106158800-106166400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:106159400-106165400	Strong transcription	Primary B cells from cord blood	blood
47	chr4:106159800-106174200	Weak transcription	Fetal Kidney	kidney
48	chr4:106160200-106165600	Strong transcription	HSMM	muscle
49	chr4:106160200-106183200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:106160400-106175400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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