Variant report

Variant	rs1469051
Chromosome Location	chr5:74865049-74865050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74864380..74866848-chr5:75012223..75014112,2	K562	blood:
2	chr5:74863361..74865877-chr5:74866045..74867591,2	MCF-7	breast:
3	chr5:74852680..74855218-chr5:74864113..74866476,2	K562	blood:

Variant related genes	Relation type
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10036682	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10038945	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10041470	0.85[EUR][1000 genomes]
rs10055011	0.90[EUR][1000 genomes]
rs10059022	0.90[EUR][1000 genomes]
rs10061689	0.88[EUR][1000 genomes]
rs10067900	0.85[EUR][1000 genomes]
rs10074747	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10076819	0.88[EUR][1000 genomes]
rs10077427	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10078671	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10474437	0.90[EUR][1000 genomes]
rs12173076	0.93[EUR][1000 genomes]
rs13360099	0.90[EUR][1000 genomes]
rs13361353	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1553234	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1820049	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1909719	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2287710	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs253410	0.93[ASN][1000 genomes]
rs28408106	0.85[EUR][1000 genomes]
rs28612248	0.89[EUR][1000 genomes]
rs28668361	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28874007	0.90[EUR][1000 genomes]
rs34339	0.93[ASN][1000 genomes]
rs34342	0.93[ASN][1000 genomes]
rs34343	0.93[ASN][1000 genomes]
rs34349	0.88[ASN][1000 genomes]
rs3804231	0.85[EUR][1000 genomes]
rs4703671	0.83[EUR][1000 genomes]
rs4703675	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4704213	0.85[EUR][1000 genomes]
rs4704229	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56859362	0.90[EUR][1000 genomes]
rs5744544	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5744545	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5744636	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5744667	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5744704	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5744709	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5744712	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57907925	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58519566	0.85[EUR][1000 genomes]
rs58841453	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6891560	0.90[EUR][1000 genomes]
rs72633964	0.85[EUR][1000 genomes]
rs72633965	0.85[EUR][1000 genomes]
rs72633967	0.83[EUR][1000 genomes]
rs72633968	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72633969	0.88[EUR][1000 genomes]
rs72633970	0.90[EUR][1000 genomes]
rs72633971	0.89[EUR][1000 genomes]
rs72633972	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72633973	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72633974	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72633975	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72633976	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72633977	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7356633	0.85[EUR][1000 genomes]
rs7726478	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs904743	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9293652	0.85[EUR][1000 genomes]
rs9293654	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9293655	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs979182	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised 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	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised 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	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
2	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:74831200-74877200	Weak transcription	Fetal Kidney	kidney
4	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:74837600-74874400	Weak transcription	Fetal Brain Male	brain
6	chr5:74839400-74897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:74841200-74899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:74846200-74865400	Weak transcription	Colonic Mucosa	Colon
9	chr5:74850000-74878000	Weak transcription	HepG2	liver
10	chr5:74850200-74896200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:74850800-74865200	Weak transcription	Fetal Thymus	thymus
12	chr5:74851200-74872600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:74853400-74867200	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:74853600-74865400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:74853800-74869400	Weak transcription	Liver	Liver
16	chr5:74854000-74865400	Weak transcription	Fetal Intestine Large	intestine
17	chr5:74854000-74883400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:74855600-74865400	Weak transcription	Aorta	Aorta
19	chr5:74855600-74872600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr5:74859600-74871000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:74860800-74870400	Weak transcription	Brain Anterior Caudate	brain
22	chr5:74861000-74871000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:74862200-74865400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:74862200-74873400	Weak transcription	Fetal Brain Female	brain
25	chr5:74862200-74897800	Weak transcription	Brain Germinal Matrix	brain
26	chr5:74862600-74871000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:74862600-74887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:74862600-74888800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr5:74862600-74897200	Weak transcription	Lung	lung
30	chr5:74862800-74865400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:74862800-74867200	Weak transcription	Right Atrium	heart
32	chr5:74862800-74871000	Weak transcription	Fetal Stomach	stomach
33	chr5:74862800-74872600	Weak transcription	Placenta	Placenta
34	chr5:74862800-74874800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr5:74862800-74874800	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:74862800-74888600	Weak transcription	Fetal Intestine Small	intestine
37	chr5:74862800-74888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:74862800-74897400	Weak transcription	Pancreas	Pancrea
39	chr5:74862800-74897400	Weak transcription	Spleen	Spleen
40	chr5:74862800-74897600	Weak transcription	Gastric	stomach
41	chr5:74862800-74907200	Weak transcription	Esophagus	oesophagus
42	chr5:74863000-74865200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:74863000-74865400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:74863000-74886400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:74863000-74896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:74863200-74867200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr5:74863200-74872600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:74863200-74872800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:74863600-74865400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:74863600-74867000	Weak transcription	Fetal Lung	lung

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