Variant report

Variant	rs62363009
Chromosome Location	chr5:76001158-76001159
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	chr5:75997963..75999602-chr5:76001084..76003295,2	K562	blood:
2	chr5:75999626..76001193-chr5:76002923..76004547,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10514070	0.90[EUR][1000 genomes]
rs10514071	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12735	0.94[ASN][1000 genomes]
rs2227750	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59373894	0.87[ASN][1000 genomes]
rs62363038	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6884442	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6887764	0.83[EUR][1000 genomes];0.94[ASN][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	chr5:75951800-76001400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:75977600-76003400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:75978400-76001600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr5:75978400-76004400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:75978600-76003400	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:75980600-76002600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:75981200-76001600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:75985800-76004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:75987600-76001200	Weak transcription	Small Intestine	intestine
11	chr5:75987800-76001400	Weak transcription	Fetal Lung	lung
12	chr5:75988400-76004600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:75988600-76001800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:75988600-76007800	Weak transcription	Fetal Intestine Large	intestine
15	chr5:75988800-76006600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:75988800-76011000	Weak transcription	Lung	lung
17	chr5:75989600-76010400	Weak transcription	Fetal Intestine Small	intestine
18	chr5:75991400-76010600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:75991600-76005800	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:75993400-76001400	Strong transcription	Primary T cells from cord blood	blood
21	chr5:75993800-76001600	Weak transcription	K562	blood
22	chr5:75993800-76004200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:75994200-76006400	Weak transcription	GM12878-XiMat	blood
24	chr5:75995800-76004000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:75997200-76010400	Weak transcription	HepG2	liver
26	chr5:75997600-76001600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:75997600-76002200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:75997800-76004200	Weak transcription	HMEC	breast
29	chr5:75997800-76010000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:75997800-76010800	Weak transcription	Gastric	stomach
31	chr5:75997800-76010800	Weak transcription	Pancreas	Pancrea
32	chr5:75998000-76001800	Strong transcription	Liver	Liver
33	chr5:75998000-76004200	Weak transcription	Spleen	Spleen
34	chr5:75998000-76007400	Weak transcription	Fetal Stomach	stomach
35	chr5:75998200-76010000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:75998400-76001200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:75998400-76010800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:75998600-76009200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:75998600-76010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:75998600-76010600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr5:75998800-76004200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:75998800-76004200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:75999200-76002200	Enhancers	HUVEC	blood vessel
44	chr5:75999600-76001800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:75999600-76002600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:75999600-76010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:75999800-76004000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:75999800-76004000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:75999800-76007200	Weak transcription	Stomach Mucosa	stomach
50	chr5:76000000-76001800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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