Variant report

Variant	rs616965
Chromosome Location	chr18:8306535-8306536
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8301404..8302990-chr18:8304667..8306906,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs600032	0.83[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs603596	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616096	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629556	0.83[EUR][1000 genomes]
rs644694	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	esv2752373	chr18:8298090-8307219	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8287800-8306800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:8289000-8308200	Weak transcription	Psoas Muscle	Psoas
3	chr18:8289200-8319400	Weak transcription	Right Ventricle	heart
4	chr18:8289200-8327400	Weak transcription	Fetal Stomach	stomach
5	chr18:8289200-8329400	Weak transcription	Fetal Muscle Leg	muscle
6	chr18:8294200-8319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:8295000-8312400	Weak transcription	Primary T cells from cord blood	blood
9	chr18:8297000-8328200	Weak transcription	Brain Anterior Caudate	brain
10	chr18:8297200-8316200	Weak transcription	Fetal Thymus	thymus
11	chr18:8297200-8327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr18:8298200-8319600	Weak transcription	A549	lung
13	chr18:8298200-8327000	Weak transcription	Ovary	ovary
14	chr18:8298400-8311800	Weak transcription	Left Ventricle	heart
15	chr18:8298400-8312800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:8298400-8324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:8298400-8329400	Weak transcription	Aorta	Aorta
18	chr18:8298600-8306600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr18:8298600-8315600	Weak transcription	Adipose Nuclei	Adipose
20	chr18:8298600-8320200	Weak transcription	Thymus	Thymus
21	chr18:8298600-8327000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr18:8298800-8307000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:8299200-8328600	Weak transcription	HepG2	liver
24	chr18:8299400-8314200	Weak transcription	Gastric	stomach
25	chr18:8300000-8307000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr18:8301800-8311600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:8301800-8321000	Weak transcription	Fetal Lung	lung
28	chr18:8301800-8322600	Weak transcription	Pancreas	Pancrea
29	chr18:8302000-8306600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:8302400-8307000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:8302400-8320200	Weak transcription	Lung	lung
32	chr18:8302800-8327000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:8303600-8306800	Weak transcription	NH-A	brain
34	chr18:8304000-8306600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr18:8304000-8307000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr18:8304200-8307000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:8304400-8308000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:8304400-8319600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:8306200-8307400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:8306200-8307400	Enhancers	Osteobl	bone
41	chr18:8306400-8306800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr18:8306400-8306800	Enhancers	NHLF	lung
43	chr18:8306400-8307000	Enhancers	Fetal Heart	heart
44	chr18:8306400-8307000	Enhancers	HSMM	muscle
45	chr18:8306400-8307000	Enhancers	HSMMtube	muscle

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