Variant report

Variant	rs73127579
Chromosome Location	chr5:76001682-76001683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75997963..75999602-chr5:76001084..76003295,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17681908	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2227746	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2227749	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2227753	0.81[ASN][1000 genomes]
rs2227757	0.85[ASN][1000 genomes]
rs61370375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61557265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73127565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73127570	0.91[AFR][1000 genomes]
rs73127576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73127582	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];0.95[ASN][1000 genomes]
rs73127593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73127597	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75948000-76004600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:75977600-76003400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:75978400-76004400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:75978600-76003400	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr5:75980600-76002600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:75985800-76004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:75988400-76004600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:75988600-76001800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:75988600-76007800	Weak transcription	Fetal Intestine Large	intestine
10	chr5:75988800-76006600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:75988800-76011000	Weak transcription	Lung	lung
12	chr5:75989600-76010400	Weak transcription	Fetal Intestine Small	intestine
13	chr5:75991400-76010600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:75991600-76005800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:75993800-76004200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:75994200-76006400	Weak transcription	GM12878-XiMat	blood
17	chr5:75995800-76004000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:75997200-76010400	Weak transcription	HepG2	liver
19	chr5:75997600-76002200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:75997800-76004200	Weak transcription	HMEC	breast
21	chr5:75997800-76010000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:75997800-76010800	Weak transcription	Gastric	stomach
23	chr5:75997800-76010800	Weak transcription	Pancreas	Pancrea
24	chr5:75998000-76001800	Strong transcription	Liver	Liver
25	chr5:75998000-76004200	Weak transcription	Spleen	Spleen
26	chr5:75998000-76007400	Weak transcription	Fetal Stomach	stomach
27	chr5:75998200-76010000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:75998400-76010800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:75998600-76009200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr5:75998600-76010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:75998600-76010600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:75998800-76004200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:75998800-76004200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr5:75999200-76002200	Enhancers	HUVEC	blood vessel
35	chr5:75999600-76001800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:75999600-76002600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:75999600-76010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:75999800-76004000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:75999800-76004000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:75999800-76007200	Weak transcription	Stomach Mucosa	stomach
41	chr5:76000000-76001800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:76000000-76004000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:76000000-76004000	Weak transcription	Primary B cells from cord blood	blood
44	chr5:76000200-76001800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:76000200-76001800	Strong transcription	Placenta	Placenta
46	chr5:76000200-76002600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr5:76000400-76002000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:76000400-76007200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:76000600-76002200	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr5:76000600-76004200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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