Variant report

Variant	rs73127582
Chromosome Location	chr5:76004610-76004611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76003087..76005831-chr5:76008202..76010428,3	K562	blood:
2	chr5:75994284..75996873-chr5:76003044..76005925,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17681908	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2227746	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2227749	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2227753	0.86[ASN][1000 genomes]
rs2227757	0.91[ASN][1000 genomes]
rs61370375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61557265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73127576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73127579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127587	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127593	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127597	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75988600-76007800	Weak transcription	Fetal Intestine Large	intestine
2	chr5:75988800-76006600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:75988800-76011000	Weak transcription	Lung	lung
4	chr5:75989600-76010400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:75991400-76010600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:75991600-76005800	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:75994200-76006400	Weak transcription	GM12878-XiMat	blood
8	chr5:75997200-76010400	Weak transcription	HepG2	liver
9	chr5:75997800-76010000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:75997800-76010800	Weak transcription	Gastric	stomach
11	chr5:75997800-76010800	Weak transcription	Pancreas	Pancrea
12	chr5:75998000-76007400	Weak transcription	Fetal Stomach	stomach
13	chr5:75998200-76010000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:75998400-76010800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:75998600-76009200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:75998600-76010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:75998600-76010600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:75999600-76010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:75999800-76007200	Weak transcription	Stomach Mucosa	stomach
20	chr5:76000400-76007200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:76001600-76007200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr5:76001800-76005000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr5:76001800-76005800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr5:76001800-76010200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:76002000-76005600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:76002000-76005600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:76002600-76005200	Strong transcription	Liver	Liver
28	chr5:76002800-76005400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:76003000-76010400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:76003400-76008600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:76003400-76008800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:76004000-76005000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:76004000-76005000	Strong transcription	Placenta	Placenta
34	chr5:76004000-76005200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr5:76004000-76005200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:76004000-76005800	Bivalent Enhancer	NHDF-Ad	bronchial
37	chr5:76004200-76004800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:76004200-76005000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr5:76004200-76005400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:76004200-76005600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:76004200-76006600	Enhancers	NHEK	skin
42	chr5:76004200-76006800	Enhancers	HMEC	breast
43	chr5:76004200-76007000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:76004200-76007600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:76004200-76007600	Enhancers	NHLF	lung
46	chr5:76004400-76004800	Bivalent Enhancer	Osteobl	bone
47	chr5:76004400-76006800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:76004400-76007600	Weak transcription	Primary B cells from cord blood	blood
49	chr5:76004400-76010000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:76004600-76005000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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