Variant report

Variant	rs7017995
Chromosome Location	chr8:62524019-62524020
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	chr8:62516750..62518743-chr8:62522209..62525565,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10957196	0.82[EUR][1000 genomes]
rs11786863	0.82[EUR][1000 genomes]
rs11984541	0.84[ASN][1000 genomes]
rs11997478	0.82[EUR][1000 genomes]
rs12675597	0.84[ASN][1000 genomes]
rs12679293	0.82[EUR][1000 genomes]
rs1574196	0.84[ASN][1000 genomes]
rs16918887	0.80[EUR][1000 genomes]
rs2350585	0.84[ASN][1000 genomes]
rs2882460	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3765162	0.80[EUR][1000 genomes]
rs55720422	0.80[EUR][1000 genomes]
rs60403482	0.84[ASN][1000 genomes]
rs6471962	0.84[ASN][1000 genomes]
rs6471964	0.82[EUR][1000 genomes]
rs66516703	0.84[ASN][1000 genomes]
rs66795450	0.83[ASN][1000 genomes]
rs7016408	0.80[EUR][1000 genomes]
rs72659015	0.82[EUR][1000 genomes]
rs72659032	0.80[EUR][1000 genomes]
rs72659034	0.80[EUR][1000 genomes]
rs7812552	0.80[EUR][1000 genomes]
rs7816208	0.80[EUR][1000 genomes]
rs7822250	0.98[ASN][1000 genomes]
rs7822988	0.82[EUR][1000 genomes]
rs7825861	0.80[EUR][1000 genomes]
rs7834148	0.84[ASN][1000 genomes]
rs7836217	0.83[ASN][1000 genomes]
rs7836999	0.80[EUR][1000 genomes]
rs7841144	0.80[EUR][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:73 , 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	chr8:62495600-62525800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr8:62504800-62526800	Weak transcription	NHEK	skin
6	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
7	chr8:62506200-62528800	Weak transcription	HepG2	liver
8	chr8:62506400-62526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
12	chr8:62513000-62550200	Weak transcription	Brain Substantia Nigra	brain
13	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
14	chr8:62513600-62533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:62515200-62538400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:62517400-62526000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:62518000-62524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:62518000-62528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:62518000-62529200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:62518000-62529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:62518000-62544000	Weak transcription	Fetal Lung	lung
22	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
23	chr8:62518400-62528800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:62518600-62536200	Weak transcription	Hela-S3	cervix
25	chr8:62518800-62529200	Weak transcription	HSMM	muscle
26	chr8:62518800-62531800	Weak transcription	HSMMtube	muscle
27	chr8:62518800-62533200	Weak transcription	Fetal Heart	heart
28	chr8:62519000-62541000	Weak transcription	Primary T cells from cord blood	blood
29	chr8:62519600-62549000	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:62520200-62526000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:62520200-62541000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:62520600-62527000	Strong transcription	A549	lung
33	chr8:62520800-62524200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:62521000-62526000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:62521800-62529200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:62521800-62529200	Weak transcription	Aorta	Aorta
37	chr8:62522000-62524400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:62522000-62525800	Weak transcription	NHLF	lung
39	chr8:62522000-62526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:62522000-62528800	Weak transcription	Lung	lung
41	chr8:62522000-62529000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr8:62522000-62529000	Weak transcription	Gastric	stomach
43	chr8:62522000-62529400	Weak transcription	Fetal Stomach	stomach
44	chr8:62522000-62535000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:62522000-62535000	Weak transcription	Left Ventricle	heart
46	chr8:62522000-62535000	Weak transcription	Pancreas	Pancrea
47	chr8:62522000-62541000	Weak transcription	Ovary	ovary
48	chr8:62522000-62543400	Weak transcription	Spleen	Spleen
49	chr8:62522000-62544000	Weak transcription	Esophagus	oesophagus
50	chr8:62522200-62529000	Weak transcription	HMEC	breast

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