Variant report

Variant	rs6847867
Chromosome Location	chr4:143317475-143317476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13126113	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1497387	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1872298	1.00[ASN][1000 genomes]
rs1906871	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029409	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029410	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4956441	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143290400-143322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:143300200-143326200	Weak transcription	Aorta	Aorta
3	chr4:143301200-143326200	Weak transcription	Gastric	stomach
4	chr4:143301600-143322800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:143301600-143323200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:143301600-143325400	Weak transcription	Left Ventricle	heart
7	chr4:143302200-143323000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:143305200-143321200	Weak transcription	HSMMtube	muscle
9	chr4:143306600-143320800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:143307200-143318800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr4:143307600-143320800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:143308200-143323200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:143309000-143323200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:143309000-143323400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:143309400-143317600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:143309400-143320600	Weak transcription	Primary T cells from cord blood	blood
17	chr4:143310000-143317800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:143312600-143320600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr4:143313000-143326200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:143313400-143322800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:143314600-143318200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:143315600-143317800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:143315600-143318200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:143315800-143318600	Strong transcription	HSMM	muscle
25	chr4:143316000-143318600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr4:143316000-143323200	Weak transcription	Small Intestine	intestine
27	chr4:143316400-143318200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr4:143316400-143320600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:143316400-143323400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:143316600-143320200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:143316800-143318200	Enhancers	NHEK	skin
32	chr4:143317000-143317600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:143317000-143318000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:143317000-143318200	Enhancers	Osteobl	bone
35	chr4:143317000-143318400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr4:143317200-143317600	Weak transcription	HMEC	breast
37	chr4:143317200-143317800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:143317200-143318000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:143317200-143318200	Enhancers	HUVEC	blood vessel
40	chr4:143317200-143318400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr4:143317200-143322400	Weak transcription	NHDF-Ad	bronchial
42	chr4:143317400-143317600	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr4:143317400-143317600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr4:143317400-143318000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:143317400-143318000	Enhancers	NH-A	brain
46	chr4:143317400-143318200	Genic enhancers	Dnd41	blood
47	chr4:143317400-143318600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:143317400-143318600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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