Variant report

Variant	rs600032
Chromosome Location	chr18:8312313-8312314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3786384	1.00[CEU][hapmap]
rs603596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs616096	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs616965	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]
rs629556	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs641631	1.00[CEU][hapmap]
rs644694	0.97[ASN][1000 genomes]
rs6506578	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8289200-8319400	Weak transcription	Right Ventricle	heart
2	chr18:8289200-8327400	Weak transcription	Fetal Stomach	stomach
3	chr18:8289200-8329400	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:8294200-8319000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:8295000-8312400	Weak transcription	Primary T cells from cord blood	blood
7	chr18:8297000-8328200	Weak transcription	Brain Anterior Caudate	brain
8	chr18:8297200-8316200	Weak transcription	Fetal Thymus	thymus
9	chr18:8297200-8327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr18:8298200-8319600	Weak transcription	A549	lung
11	chr18:8298200-8327000	Weak transcription	Ovary	ovary
12	chr18:8298400-8312800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:8298400-8324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:8298400-8329400	Weak transcription	Aorta	Aorta
15	chr18:8298600-8315600	Weak transcription	Adipose Nuclei	Adipose
16	chr18:8298600-8320200	Weak transcription	Thymus	Thymus
17	chr18:8298600-8327000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:8299200-8328600	Weak transcription	HepG2	liver
19	chr18:8299400-8314200	Weak transcription	Gastric	stomach
20	chr18:8301800-8321000	Weak transcription	Fetal Lung	lung
21	chr18:8301800-8322600	Weak transcription	Pancreas	Pancrea
22	chr18:8302400-8320200	Weak transcription	Lung	lung
23	chr18:8302800-8327000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr18:8304400-8319600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:8307000-8313800	Weak transcription	HSMM	muscle
26	chr18:8307400-8315200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:8307400-8320000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:8307400-8321800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr18:8307400-8328400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr18:8307600-8316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr18:8307600-8327200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr18:8307800-8318800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:8308400-8319800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:8308400-8327400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:8311600-8314000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr18:8311600-8314600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr18:8311800-8312800	Strong transcription	Left Ventricle	heart
38	chr18:8311800-8313400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr18:8312000-8313000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr18:8312000-8313400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:8312000-8313400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr18:8312000-8313400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr18:8312000-8313800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr18:8312200-8312600	Enhancers	NH-A	brain
45	chr18:8312200-8313000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:8312200-8313600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:8312200-8314400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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