Variant report

Variant	rs17002681
Chromosome Location	chr4:78354719-78354720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:78354236..78354764-chr4:78521810..78522404,2	MCF-7	breast:
2	chr4:78306262..78307241-chr4:78353866..78354908,3	MCF-7	breast:
3	chr4:78287359..78291622-chr4:78351702..78357008,5	MCF-7	breast:
4	chr4:78306456..78307324-chr4:78354247..78354761,2	K562	blood:
5	chr4:78296565..78297450-chr4:78353933..78354751,2	MCF-7	breast:
6	chr4:78354320..78356763-chr4:78358958..78361318,2	K562	blood:
7	chr4:78306279..78307489-chr4:78353325..78355121,9	MCF-7	breast:
8	chr4:78354631..78355201-chr4:78520510..78521240,2	MCF-7	breast:

No data

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11930677	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11936117	0.89[ASN][1000 genomes]
rs11939449	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11942781	0.89[ASN][1000 genomes]
rs11945282	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17002675	0.80[ASN][1000 genomes]
rs17002682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17002687	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17002700	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1867107	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1992489	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2083702	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2119977	0.95[ASN][1000 genomes]
rs2866292	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2903242	0.81[EUR][1000 genomes]
rs4152	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859499	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4859842	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4859845	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4859846	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55685718	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55729445	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55915318	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56092580	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56107646	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56164638	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61145421	0.81[AMR][1000 genomes]
rs62302436	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62302437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62302438	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62302439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62302442	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62302445	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6826277	0.81[EUR][1000 genomes]
rs72650428	0.87[ASN][1000 genomes]
rs72650458	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7670432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7676991	0.81[EUR][1000 genomes]
rs7681293	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7699486	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78352200-78354800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:78352200-78356200	Enhancers	Fetal Muscle Leg	muscle
3	chr4:78352400-78356400	Enhancers	HSMMtube	muscle
4	chr4:78353600-78356000	Weak transcription	Spleen	Spleen
5	chr4:78353800-78355000	Enhancers	Colon Smooth Muscle	Colon
6	chr4:78353800-78355400	Enhancers	Fetal Lung	lung
7	chr4:78354000-78354800	Enhancers	Ovary	ovary
8	chr4:78354200-78354800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:78354200-78354800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr4:78354200-78355000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:78354200-78355000	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:78354200-78355000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr4:78354200-78355000	Enhancers	Fetal Heart	heart
14	chr4:78354200-78355200	Enhancers	Liver	Liver
15	chr4:78354200-78355800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:78354200-78356000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:78354200-78356800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:78354400-78354800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:78354400-78354800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:78354400-78354800	Enhancers	Brain Anterior Caudate	brain
21	chr4:78354400-78357600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:78354600-78355400	Weak transcription	Aorta	Aorta
23	chr4:78354600-78355600	Weak transcription	Pancreas	Pancrea
24	chr4:78354600-78355600	Weak transcription	Psoas Muscle	Psoas

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