Variant report

Variant	rs56111938
Chromosome Location	chr4:142651652-142651653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1500838	1.00[AMR][1000 genomes]
rs17007403	1.00[AMR][1000 genomes]
rs60179842	1.00[AFR][1000 genomes]
rs60514765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61098551	1.00[AMR][1000 genomes]
rs73849779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73851548	1.00[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:45 , 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	chr4:142629400-142654600	Weak transcription	Esophagus	oesophagus
4	chr4:142629400-142655000	Weak transcription	Spleen	Spleen
5	chr4:142629600-142657600	Weak transcription	Right Ventricle	heart
6	chr4:142634600-142653600	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:142634800-142656200	Weak transcription	Pancreas	Pancrea
8	chr4:142635800-142651800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:142635800-142651800	Weak transcription	HSMM	muscle
10	chr4:142635800-142651800	Weak transcription	NHLF	lung
11	chr4:142635800-142651800	Weak transcription	Osteobl	bone
12	chr4:142635800-142653600	Weak transcription	HSMMtube	muscle
13	chr4:142638800-142651800	Weak transcription	Aorta	Aorta
14	chr4:142639600-142655000	Weak transcription	Primary B cells from cord blood	blood
15	chr4:142639600-142657400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr4:142640800-142653000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:142641400-142655000	Weak transcription	Lung	lung
18	chr4:142641800-142654200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:142642200-142652400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:142643200-142652000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:142644800-142654400	Weak transcription	GM12878-XiMat	blood
22	chr4:142644800-142655800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:142646600-142655800	Weak transcription	Small Intestine	intestine
24	chr4:142649800-142655400	Weak transcription	Fetal Intestine Large	intestine
25	chr4:142650600-142653000	Strong transcription	Liver	Liver
26	chr4:142651000-142651800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:142651000-142652200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:142651000-142652400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr4:142651000-142652800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:142651000-142652800	Strong transcription	Adipose Nuclei	Adipose
31	chr4:142651000-142652800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr4:142651000-142653000	Strong transcription	Left Ventricle	heart
33	chr4:142651000-142653800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr4:142651000-142654600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:142651000-142654600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:142651000-142654800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr4:142651200-142652000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:142651200-142652400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:142651200-142653000	Weak transcription	Psoas Muscle	Psoas
40	chr4:142651200-142654000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr4:142651400-142654200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:142651400-142655000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:142651600-142652400	Enhancers	NHDF-Ad	bronchial
44	chr4:142651600-142653600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr4:142651600-142655600	Weak transcription	A549	lung

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