Variant report

Variant	rs16996018
Chromosome Location	chr4:86859772-86859773
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86858002..86860369-chr4:86861620..86863403,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10516764	0.85[AMR][1000 genomes]
rs11930571	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs11943603	0.85[LWK][hapmap];0.82[MKK][hapmap];0.86[YRI][hapmap]
rs1347600	0.81[AFR][1000 genomes]
rs17011235	0.85[AMR][1000 genomes]
rs17011240	0.88[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17011258	0.85[AMR][1000 genomes]
rs17011264	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs17011277	0.92[YRI][hapmap]
rs2601858	1.00[MEX][hapmap]
rs34495250	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86851200-86863200	Weak transcription	Psoas Muscle	Psoas
2	chr4:86851400-86861600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:86851400-86865800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:86851400-86874600	Weak transcription	HSMMtube	muscle
5	chr4:86851600-86870000	Weak transcription	HSMM	muscle
6	chr4:86851600-86874800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:86853800-86860000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:86853800-86864400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:86854000-86867400	Weak transcription	Fetal Lung	lung
10	chr4:86854000-86874200	Weak transcription	Fetal Stomach	stomach
11	chr4:86854000-86893000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr4:86854200-86860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:86854200-86860200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:86854200-86860200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:86854200-86860200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:86854200-86863000	Weak transcription	HUVEC	blood vessel
17	chr4:86854200-86863200	Weak transcription	Pancreas	Pancrea
18	chr4:86854200-86880200	Weak transcription	Gastric	stomach
19	chr4:86854200-86893000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:86854200-86915800	Weak transcription	Left Ventricle	heart
21	chr4:86854400-86860800	Weak transcription	Adipose Nuclei	Adipose
22	chr4:86854600-86863000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:86854800-86863200	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:86856000-86860200	Strong transcription	Primary B cells from cord blood	blood
25	chr4:86856000-86863200	Weak transcription	Right Atrium	heart
26	chr4:86858000-86860400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr4:86858400-86863600	Enhancers	Fetal Kidney	kidney
28	chr4:86858800-86876600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:86859200-86859800	Flanking Active TSS	Liver	Liver
30	chr4:86859200-86860000	Enhancers	NHDF-Ad	bronchial
31	chr4:86859600-86860000	Enhancers	A549	lung
32	chr4:86859600-86861000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:86859600-86861200	Weak transcription	Stomach Mucosa	stomach
34	chr4:86859600-86874200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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