Variant report

Variant	rs159749
Chromosome Location	chr5:36968540-36968541
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	chr5:36966039..36969773-chr5:36970364..36974397,4	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12657771	0.84[ASN][1000 genomes]
rs13158310	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13170811	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13176880	0.89[EUR][1000 genomes]
rs13180309	0.85[ASN][1000 genomes]
rs1466862	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs150380	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs151944	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs158622	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158623	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs158624	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs158791	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158796	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158803	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs159751	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159753	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs159755	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs159913	0.88[EUR][1000 genomes]
rs168662	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs184182	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs186173	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs188488	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs188541	0.91[EUR][1000 genomes]
rs292182	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs292183	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs292184	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292194	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs292195	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs296962	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs300046	0.81[EUR][1000 genomes]
rs300049	0.88[EUR][1000 genomes]
rs300051	0.88[EUR][1000 genomes]
rs300053	0.91[EUR][1000 genomes]
rs300055	0.92[EUR][1000 genomes]
rs300058	0.88[EUR][1000 genomes]
rs300060	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300061	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300063	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300064	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs300065	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs301859	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs301901	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs301917	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3104057	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs388098	0.92[EUR][1000 genomes]
rs6875748	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6899155	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1033562	chr5:36927652-36994811	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1023362	chr5:36927652-37010749	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv1017947	chr5:36927652-37017180	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1029936	chr5:36927652-37025871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
12	nsv1029319	chr5:36928654-37017180	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
13	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	esv1803659	chr5:36935129-37039857	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
15	nsv1034694	chr5:36946454-36991605	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1015172	chr5:36946454-36993280	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1033778	chr5:36946454-36994811	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1033928	chr5:36947293-37039857	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
19	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
20	nsv881592	chr5:36954812-37027258	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
21	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr5:36940600-36985400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:36946400-36978000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:36946600-36970000	Weak transcription	Left Ventricle	heart
4	chr5:36946600-36976000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:36948400-36985800	Weak transcription	Colonic Mucosa	Colon
6	chr5:36948600-36996600	Weak transcription	HSMMtube	muscle
7	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:36951000-36975800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:36951400-36971000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:36951400-37004400	Weak transcription	Right Ventricle	heart
11	chr5:36951600-36971200	Weak transcription	Brain Angular Gyrus	brain
12	chr5:36951600-36975800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:36951600-36976000	Weak transcription	Fetal Brain Female	brain
14	chr5:36952200-36971200	Weak transcription	Brain Germinal Matrix	brain
15	chr5:36952200-36985000	Weak transcription	Small Intestine	intestine
16	chr5:36953800-36972600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:36954000-36969800	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:36954200-36975800	Weak transcription	Thymus	Thymus
19	chr5:36954200-36978200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:36954200-36979800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:36954400-36978200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:36954400-37026400	Weak transcription	Pancreas	Pancrea
23	chr5:36954600-36979000	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:36954800-37023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:36955200-36977000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:36955200-36977800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:36955200-36978200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:36955200-36978200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr5:36955400-36977800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr5:36955400-37010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:36956400-36975800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:36956800-36975800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:36957000-36976000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:36957000-36977800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:36957600-36985400	Weak transcription	Esophagus	oesophagus
36	chr5:36959200-36977600	Strong transcription	Dnd41	blood
37	chr5:36959400-36976000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:36959400-36988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:36959400-36996800	Weak transcription	Gastric	stomach
40	chr5:36959600-36971600	Weak transcription	HepG2	liver
41	chr5:36960200-36976000	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:36960600-36972800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr5:36960600-36974000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:36960600-36974400	Strong transcription	Primary B cells from cord blood	blood
45	chr5:36961600-36972200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr5:36961600-36977400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:36961600-36977800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:36961600-36978000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:36961600-36978400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:36961600-36978400	Strong transcription	Rectal Mucosa Donor 31	rectum

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