Variant report

Variant	rs17007584
Chromosome Location	chr4:142642376-142642377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17007506	1.00[MKK][hapmap]
rs3775596	0.89[LWK][hapmap];0.92[YRI][hapmap]
rs3775597	0.89[LWK][hapmap];0.92[YRI][hapmap]
rs41309800	0.92[AFR][1000 genomes]
rs56068480	0.82[AFR][1000 genomes]
rs57056175	0.92[AFR][1000 genomes]
rs57571635	0.92[AFR][1000 genomes]
rs59134902	0.92[AFR][1000 genomes]
rs59888922	0.92[AFR][1000 genomes]
rs60177367	0.92[AFR][1000 genomes]
rs60244316	0.92[AFR][1000 genomes]
rs61071936	1.00[AFR][1000 genomes]
rs73851503	0.88[AFR][1000 genomes]
rs73851506	0.92[AFR][1000 genomes]
rs73851518	0.92[AFR][1000 genomes]
rs73851519	0.92[AFR][1000 genomes]
rs73851520	0.88[AFR][1000 genomes]
rs73851521	0.89[AFR][1000 genomes]
rs73851522	0.92[AFR][1000 genomes]
rs73851523	0.90[AFR][1000 genomes]
rs73851525	0.92[AFR][1000 genomes]
rs73851526	0.92[AFR][1000 genomes]
rs73851527	0.92[AFR][1000 genomes]
rs73851528	0.92[AFR][1000 genomes]
rs9282741	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880173	chr4:142355535-142666106	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3401979	chr4:142434442-142803321	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018949	chr4:142451823-142732365	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030822	chr4:142487721-142706053	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3448093	chr4:142612197-142704695	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142608800-142655000	Weak transcription	Gastric	stomach
2	chr4:142624000-142652000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:142624200-142651000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:142629400-142651000	Weak transcription	Left Ventricle	heart
5	chr4:142629400-142654600	Weak transcription	Esophagus	oesophagus
6	chr4:142629400-142655000	Weak transcription	Spleen	Spleen
7	chr4:142629600-142657600	Weak transcription	Right Ventricle	heart
8	chr4:142630000-142650400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:142634600-142653600	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:142634800-142656200	Weak transcription	Pancreas	Pancrea
11	chr4:142635800-142651600	Weak transcription	NHDF-Ad	bronchial
12	chr4:142635800-142651800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:142635800-142651800	Weak transcription	HSMM	muscle
14	chr4:142635800-142651800	Weak transcription	NHLF	lung
15	chr4:142635800-142651800	Weak transcription	Osteobl	bone
16	chr4:142635800-142653600	Weak transcription	HSMMtube	muscle
17	chr4:142636200-142642800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:142636200-142647200	Weak transcription	Hela-S3	cervix
19	chr4:142637400-142651000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:142638800-142650600	Weak transcription	Liver	Liver
21	chr4:142638800-142651800	Weak transcription	Aorta	Aorta
22	chr4:142639200-142651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:142639400-142643600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:142639400-142651000	Weak transcription	Adipose Nuclei	Adipose
25	chr4:142639400-142651000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:142639600-142651200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:142639600-142655000	Weak transcription	Primary B cells from cord blood	blood
28	chr4:142639600-142657400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:142640200-142646200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:142640400-142645200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:142640600-142643000	Weak transcription	GM12878-XiMat	blood
32	chr4:142640800-142643400	Weak transcription	Ovary	ovary
33	chr4:142640800-142653000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:142641400-142655000	Weak transcription	Lung	lung
35	chr4:142641600-142644400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:142641600-142644800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:142641800-142651000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:142641800-142654200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr4:142642200-142642400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:142642200-142643200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:142642200-142643800	Strong transcription	A549	lung
42	chr4:142642200-142644800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr4:142642200-142645000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:142642200-142652400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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