Variant report

Variant	rs158623
Chromosome Location	chr5:36883019-36883020
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	chr5:36881365..36883410-chr5:36892096..36895669,3	K562	blood:
2	chr5:36881285..36883569-chr5:36896456..36898499,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12657771	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13158310	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13170811	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13176880	0.86[EUR][1000 genomes]
rs13180309	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1466862	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs150380	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151944	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs158622	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs158624	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs158791	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs158796	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs158803	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs159749	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs159751	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs159753	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs159755	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs159913	0.90[EUR][1000 genomes]
rs168662	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs184182	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs186173	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs188488	0.85[AMR][1000 genomes]
rs188541	0.89[EUR][1000 genomes]
rs292182	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs292183	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs292184	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs292194	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs292195	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs296962	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs300049	0.86[EUR][1000 genomes]
rs300051	0.86[EUR][1000 genomes]
rs300053	0.88[EUR][1000 genomes]
rs300055	0.89[EUR][1000 genomes]
rs300058	0.90[EUR][1000 genomes]
rs300060	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300061	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300063	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300064	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs300065	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs301859	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs301901	0.89[EUR][1000 genomes]
rs301917	0.90[EUR][1000 genomes]
rs3104057	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs388098	0.89[EUR][1000 genomes]
rs6875748	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6899155	0.88[EUR][1000 genomes];0.89[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36877800-36885400	Weak transcription	Spleen	Spleen
2	chr5:36878800-36885400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:36879000-36885600	Weak transcription	Placenta	Placenta
4	chr5:36879200-36883400	Enhancers	Colon Smooth Muscle	Colon
5	chr5:36879200-36885200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:36879200-36885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:36879200-36885200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:36879200-36885200	Weak transcription	Gastric	stomach
9	chr5:36879200-36885200	Weak transcription	Pancreas	Pancrea
10	chr5:36879200-36885400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:36879200-36885400	Weak transcription	Esophagus	oesophagus
12	chr5:36879200-36885400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:36879200-36885400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:36879200-36885600	Weak transcription	Colonic Mucosa	Colon
15	chr5:36879200-36885800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:36879200-36885800	Weak transcription	Small Intestine	intestine
17	chr5:36879200-36889400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr5:36879400-36883200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:36879400-36883400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:36879400-36883600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:36879400-36883600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr5:36879400-36885200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:36879400-36885200	Weak transcription	Fetal Thymus	thymus
24	chr5:36879400-36885400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:36879400-36885400	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:36879400-36885400	Weak transcription	Fetal Stomach	stomach
27	chr5:36879400-36885400	Weak transcription	Right Ventricle	heart
28	chr5:36879400-36885600	Weak transcription	HSMM	muscle
29	chr5:36879400-36885800	Weak transcription	Psoas Muscle	Psoas
30	chr5:36879400-36887400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:36879600-36883600	Enhancers	Primary B cells from cord blood	blood
32	chr5:36879600-36889400	Weak transcription	HSMMtube	muscle
33	chr5:36879800-36883200	Enhancers	Rectal Smooth Muscle	rectum
34	chr5:36879800-36884600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:36879800-36885000	Enhancers	Liver	Liver
36	chr5:36879800-36885200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:36879800-36885400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:36879800-36885400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:36879800-36885400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:36879800-36885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:36879800-36885400	Weak transcription	Thymus	Thymus
42	chr5:36879800-36891400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:36880000-36885200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:36880000-36889000	Weak transcription	Brain Anterior Caudate	brain
45	chr5:36880000-36891200	Weak transcription	Fetal Brain Female	brain
46	chr5:36880000-36897400	Weak transcription	NHLF	lung
47	chr5:36880200-36883200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:36880200-36884800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:36880200-36885600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:36880400-36897800	Weak transcription	HUVEC	blood vessel

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