Variant report

Variant	rs16952897
Chromosome Location	chr18:8119652-8119653
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	chr18:8119022..8121580-chr18:21303678..21305732,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16952888	0.85[AFR][1000 genomes]
rs7239189	0.85[AFR][1000 genomes]
rs73387770	0.85[AFR][1000 genomes]
rs73387778	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73387785	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73387789	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73389722	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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8092800-8122200	Weak transcription	Thymus	Thymus
3	chr18:8096600-8125000	Weak transcription	Pancreas	Pancrea
4	chr18:8102800-8126600	Weak transcription	Psoas Muscle	Psoas
5	chr18:8103400-8123800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:8103600-8122200	Weak transcription	Aorta	Aorta
7	chr18:8103600-8124800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:8103600-8136600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:8103600-8139200	Weak transcription	Brain Anterior Caudate	brain
10	chr18:8104200-8132600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:8110000-8123000	Weak transcription	Fetal Intestine Small	intestine
12	chr18:8110400-8138600	Weak transcription	Fetal Muscle Leg	muscle
13	chr18:8111200-8137200	Weak transcription	Left Ventricle	heart
14	chr18:8113600-8125000	Weak transcription	Gastric	stomach
15	chr18:8117200-8121400	Weak transcription	NH-A	brain
16	chr18:8117200-8121800	Weak transcription	HSMM	muscle
17	chr18:8117200-8121800	Weak transcription	NHEK	skin
18	chr18:8117200-8122000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:8117200-8122000	Weak transcription	Adipose Nuclei	Adipose
20	chr18:8117200-8124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:8117200-8132600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr18:8117200-8137800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr18:8117400-8120800	Weak transcription	NHDF-Ad	bronchial
24	chr18:8117400-8121400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr18:8117400-8121400	Weak transcription	Osteobl	bone
26	chr18:8117400-8121800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:8117400-8122200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:8117400-8124600	Weak transcription	HepG2	liver
29	chr18:8117400-8153200	Weak transcription	Liver	Liver
30	chr18:8117600-8124800	Weak transcription	Right Atrium	heart
31	chr18:8117800-8120800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr18:8117800-8121400	Weak transcription	HMEC	breast
33	chr18:8117800-8122000	Weak transcription	NHLF	lung
34	chr18:8118000-8120800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:8118000-8121000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr18:8118000-8121000	Weak transcription	A549	lung
37	chr18:8118600-8120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:8118800-8122200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:8119000-8119800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:8119200-8138200	Weak transcription	Ovary	ovary

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