Variant report

Variant	rs343850
Chromosome Location	chr4:86662153-86662154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86657861..86659859-chr4:86661418..86663098,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1020585	0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13110649	0.82[ASW][hapmap]
rs13121496	0.88[YRI][hapmap];0.89[AFR][1000 genomes]
rs1377206	0.82[ASW][hapmap]
rs16995986	0.80[ASW][hapmap];0.87[LWK][hapmap]
rs1985960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601857	0.86[MKK][hapmap]
rs2601858	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2601859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2624019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2624020	0.91[AFR][1000 genomes]
rs2624022	1.00[AFR][1000 genomes]
rs343851	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs343853	0.86[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763373	chr4:86655128-86673695	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86647800-86662600	Weak transcription	Left Ventricle	heart
2	chr4:86647800-86662600	Weak transcription	Spleen	Spleen
3	chr4:86648400-86662600	Weak transcription	Pancreas	Pancrea
4	chr4:86650400-86662400	Weak transcription	Adipose Nuclei	Adipose
5	chr4:86653800-86662200	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:86655000-86664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:86656600-86664000	Weak transcription	Hela-S3	cervix
8	chr4:86658800-86664600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:86658800-86665600	Weak transcription	Psoas Muscle	Psoas
10	chr4:86659400-86662200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:86659400-86664200	Enhancers	NHDF-Ad	bronchial
12	chr4:86659800-86667200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:86659800-86671600	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:86660400-86662600	Weak transcription	Right Atrium	heart
15	chr4:86660400-86664200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:86660400-86665200	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:86660400-86666000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:86660600-86662200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:86660600-86662200	Weak transcription	Brain Substantia Nigra	brain
20	chr4:86660600-86662600	Weak transcription	Fetal Thymus	thymus
21	chr4:86660600-86663200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:86660600-86664000	Weak transcription	NHEK	skin
23	chr4:86660600-86664200	Weak transcription	HMEC	breast
24	chr4:86660600-86664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:86660800-86664200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:86661200-86662200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:86661200-86663600	Enhancers	NHLF	lung
28	chr4:86661400-86662200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:86661600-86662400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:86661600-86663400	Enhancers	Osteobl	bone
31	chr4:86661600-86664000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:86661600-86667200	Enhancers	A549	lung
33	chr4:86661800-86662200	Enhancers	GM12878-XiMat	blood
34	chr4:86661800-86662200	Enhancers	NH-A	brain
35	chr4:86661800-86662800	Enhancers	Brain Hippocampus Middle	brain
36	chr4:86661800-86663000	Enhancers	Primary B cells from cord blood	blood
37	chr4:86661800-86663200	Enhancers	K562	blood
38	chr4:86661800-86663600	Enhancers	HSMMtube	muscle
39	chr4:86661800-86664000	Enhancers	Brain Anterior Caudate	brain
40	chr4:86661800-86664400	Enhancers	Brain Angular Gyrus	brain
41	chr4:86661800-86664600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:86661800-86665400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:86661800-86665600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:86661800-86666400	Enhancers	HSMM	muscle
45	chr4:86662000-86662400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:86662000-86662600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:86662000-86666200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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