Variant report

Variant	rs6595176
Chromosome Location	chr5:118497016-118497017
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	chr5:118486635..118489506-chr5:118495369..118497251,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10056088	0.83[EUR][1000 genomes]
rs10900728	0.85[ASN][1000 genomes]
rs11241482	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs11241486	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11241492	0.92[CEU][hapmap];0.82[CHB][hapmap];0.93[EUR][1000 genomes]
rs11738650	0.81[EUR][1000 genomes]
rs12188483	0.82[ASN][1000 genomes]
rs12516300	0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs12518168	0.85[ASN][1000 genomes]
rs12653377	0.89[EUR][1000 genomes]
rs12653870	0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs12657132	0.82[CHB][hapmap]
rs12659055	0.91[EUR][1000 genomes]
rs1553544	0.96[CEU][hapmap]
rs2036565	0.85[ASN][1000 genomes]
rs3923326	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3992621	0.85[ASN][1000 genomes]
rs4565243	0.81[ASN][1000 genomes]
rs4583917	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4639262	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57278208	0.93[EUR][1000 genomes]
rs60504316	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62374138	0.83[EUR][1000 genomes]
rs6863826	0.96[CEU][hapmap];0.82[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6874227	0.96[CEU][hapmap];0.82[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6880622	0.82[CEU][hapmap]
rs7702867	0.82[CEU][hapmap]
rs7713483	0.94[EUR][1000 genomes]
rs7727906	0.85[ASN][1000 genomes]
rs9790885	0.82[CHB][hapmap];0.86[AMR][1000 genomes];0.98[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	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1019788	chr5:118488501-118607405	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv537882	chr5:118488501-118607405	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:118470000-118503200	Weak transcription	NH-A	brain
5	chr5:118472800-118504000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:118472800-118505000	Weak transcription	HepG2	liver
7	chr5:118473800-118505000	Weak transcription	A549	lung
8	chr5:118479000-118526000	Weak transcription	Fetal Brain Male	brain
9	chr5:118483000-118541400	Weak transcription	NHEK	skin
10	chr5:118484800-118506400	Weak transcription	Fetal Heart	heart
11	chr5:118485200-118503800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:118485400-118500200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:118485400-118506600	Weak transcription	HSMMtube	muscle
14	chr5:118485400-118522800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:118485600-118500200	Weak transcription	HSMM	muscle
16	chr5:118485600-118515800	Weak transcription	Hela-S3	cervix
17	chr5:118485800-118497400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr5:118485800-118500200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:118485800-118501200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:118485800-118503400	Weak transcription	HUVEC	blood vessel
21	chr5:118485800-118515600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:118485800-118534000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:118485800-118572200	Weak transcription	Small Intestine	intestine
24	chr5:118486000-118500200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr5:118486000-118501600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:118486000-118534200	Weak transcription	Brain Angular Gyrus	brain
27	chr5:118486000-118588600	Weak transcription	Right Ventricle	heart
28	chr5:118486200-118499600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:118486200-118500000	Weak transcription	NHDF-Ad	bronchial
30	chr5:118486200-118513000	Weak transcription	Brain Germinal Matrix	brain
31	chr5:118486200-118526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:118486200-118534200	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:118486400-118500000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:118486400-118500000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr5:118486400-118500200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:118486400-118501800	Weak transcription	NHLF	lung
37	chr5:118486400-118504400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:118486600-118515800	Weak transcription	Osteobl	bone
39	chr5:118488000-118501200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:118489000-118498600	Strong transcription	Primary B cells from cord blood	blood
41	chr5:118489800-118499200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:118489800-118500200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr5:118489800-118591200	Weak transcription	Colonic Mucosa	Colon
44	chr5:118490000-118505600	Weak transcription	Placenta	Placenta
45	chr5:118490200-118499800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:118490200-118509600	Weak transcription	K562	blood
47	chr5:118490400-118512400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:118490600-118500200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:118490600-118515800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:118490800-118499800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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