Variant report

Variant	rs62413418
Chromosome Location	chr6:80317507-80317508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80316501..80318082-chr6:80322161..80324470,2	K562	blood:
2	chr6:80315668..80318474-chr6:80337114..80339782,2	MCF-7	breast:
3	chr6:80313976..80315721-chr6:80316526..80319476,2	MCF-7	breast:
4	chr6:80311176..80314030-chr6:80317329..80319854,3	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12178357	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16890789	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16890805	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs16890832	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16890833	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2134854	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411327	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411328	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411329	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411333	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411355	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62411357	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62411359	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413361	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413365	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413367	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413369	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413373	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413374	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413375	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413378	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413379	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413381	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62413383	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413386	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413394	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413400	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413402	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413403	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62413404	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413406	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413407	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413408	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413409	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62413411	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413412	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62413420	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413423	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv886304	chr6:80294265-80355973	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80298600-80324200	Weak transcription	Right Ventricle	heart
2	chr6:80310400-80317800	Weak transcription	Colonic Mucosa	Colon
3	chr6:80310600-80319200	Weak transcription	Psoas Muscle	Psoas
4	chr6:80311000-80324400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr6:80311200-80324400	Weak transcription	Pancreas	Pancrea
6	chr6:80312200-80319200	Enhancers	HSMM	muscle
7	chr6:80313400-80317800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:80313400-80321800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:80313600-80318400	Enhancers	HepG2	liver
10	chr6:80313600-80321600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:80314600-80317800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:80314600-80318600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:80314600-80318600	Weak transcription	Fetal Heart	heart
14	chr6:80314800-80318000	Weak transcription	A549	lung
15	chr6:80314800-80320600	Enhancers	Stomach Mucosa	stomach
16	chr6:80315000-80340600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:80315200-80318600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:80315200-80320800	Enhancers	K562	blood
19	chr6:80315800-80320200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr6:80316000-80320400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:80316400-80318000	Weak transcription	Gastric	stomach
22	chr6:80316600-80320600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr6:80316800-80320600	Enhancers	Fetal Intestine Large	intestine
24	chr6:80316800-80321000	Enhancers	Fetal Intestine Small	intestine
25	chr6:80317000-80318600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:80317000-80319000	Enhancers	HSMMtube	muscle
27	chr6:80317000-80323200	Weak transcription	Liver	Liver
28	chr6:80317200-80319400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:80317200-80319600	Enhancers	Duodenum Mucosa	Duodenum
30	chr6:80317200-80320400	Weak transcription	Ovary	ovary
31	chr6:80317400-80317800	Weak transcription	Brain Anterior Caudate	brain
32	chr6:80317400-80318600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:80317400-80324400	Weak transcription	Left Ventricle	heart

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