Variant report

Variant	rs73265190
Chromosome Location	chr8:62526679-62526680
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	chr8:62521782..62523437-chr8:62525104..62526707,2	K562	blood:
2	chr8:62497711..62498456-chr8:62526163..62527120,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16927603	0.89[AFR][1000 genomes]
rs16927637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4501572	0.92[AFR][1000 genomes]
rs73265168	0.86[AFR][1000 genomes]
rs73265172	0.87[AFR][1000 genomes]
rs73265184	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7836743	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:62504800-62526800	Weak transcription	NHEK	skin
5	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
6	chr8:62506200-62528800	Weak transcription	HepG2	liver
7	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
10	chr8:62513000-62550200	Weak transcription	Brain Substantia Nigra	brain
11	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
12	chr8:62513600-62533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:62515200-62538400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr8:62518000-62528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:62518000-62529200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:62518000-62529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:62518000-62544000	Weak transcription	Fetal Lung	lung
18	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
19	chr8:62518400-62528800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:62518600-62536200	Weak transcription	Hela-S3	cervix
21	chr8:62518800-62529200	Weak transcription	HSMM	muscle
22	chr8:62518800-62531800	Weak transcription	HSMMtube	muscle
23	chr8:62518800-62533200	Weak transcription	Fetal Heart	heart
24	chr8:62519000-62541000	Weak transcription	Primary T cells from cord blood	blood
25	chr8:62519600-62549000	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:62520200-62541000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:62520600-62527000	Strong transcription	A549	lung
28	chr8:62521800-62529200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:62521800-62529200	Weak transcription	Aorta	Aorta
30	chr8:62522000-62526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:62522000-62528800	Weak transcription	Lung	lung
32	chr8:62522000-62529000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr8:62522000-62529000	Weak transcription	Gastric	stomach
34	chr8:62522000-62529400	Weak transcription	Fetal Stomach	stomach
35	chr8:62522000-62535000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:62522000-62535000	Weak transcription	Left Ventricle	heart
37	chr8:62522000-62535000	Weak transcription	Pancreas	Pancrea
38	chr8:62522000-62541000	Weak transcription	Ovary	ovary
39	chr8:62522000-62543400	Weak transcription	Spleen	Spleen
40	chr8:62522000-62544000	Weak transcription	Esophagus	oesophagus
41	chr8:62522200-62529000	Weak transcription	HMEC	breast
42	chr8:62522200-62529200	Weak transcription	Liver	Liver
43	chr8:62522200-62529200	Weak transcription	NH-A	brain
44	chr8:62522200-62535200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:62522200-62548800	Weak transcription	Placenta	Placenta
46	chr8:62522800-62541600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:62523400-62527200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:62523400-62529400	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:62523400-62549000	Weak transcription	Colonic Mucosa	Colon
50	chr8:62523600-62527400	Weak transcription	Adipose Nuclei	Adipose

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