Variant report

Variant	rs61170796
Chromosome Location	chr14:65707449-65707450
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65696604..65698657-chr14:65706204..65708336,3	K562	blood:
2	chr14:65702798..65707565-chr14:65719899..65724349,7	MCF-7	breast:
3	chr14:65691185..65703550-chr14:65706694..65715001,23	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258878	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1256481	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1256485	0.92[EUR][1000 genomes]
rs1256487	0.87[EUR][1000 genomes]
rs1256489	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1256490	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1256491	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1256492	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1256493	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1256495	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1256496	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1256497	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1256498	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1262271	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1760969	0.87[EUR][1000 genomes]
rs2086465	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57454873	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59978001	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61989807	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7142218	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7142951	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7146907	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8015540	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8021641	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv564934	chr14:65706758-65712872	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:65697400-65710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:65699000-65708000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr14:65703200-65708600	Enhancers	Fetal Intestine Large	intestine
5	chr14:65703400-65711800	Enhancers	Fetal Intestine Small	intestine
6	chr14:65703600-65708400	Enhancers	Brain Substantia Nigra	brain
7	chr14:65704800-65710400	Weak transcription	Small Intestine	intestine
8	chr14:65705000-65710400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:65705000-65710600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:65706000-65710600	Weak transcription	NHEK	skin
11	chr14:65706400-65709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:65706400-65710000	Weak transcription	Gastric	stomach
13	chr14:65706400-65710000	Weak transcription	K562	blood
14	chr14:65706600-65710400	Weak transcription	Pancreas	Pancrea
15	chr14:65706600-65710400	Weak transcription	HMEC	breast
16	chr14:65706600-65710400	Weak transcription	HSMM	muscle
17	chr14:65706600-65710600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:65706600-65718200	Weak transcription	Spleen	Spleen
19	chr14:65706800-65708200	Weak transcription	A549	lung
20	chr14:65706800-65709200	Weak transcription	NH-A	brain
21	chr14:65706800-65709800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:65706800-65709800	Weak transcription	NHLF	lung
23	chr14:65706800-65710400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:65706800-65710600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:65706800-65710600	Weak transcription	Osteobl	bone
26	chr14:65706800-65711000	Weak transcription	Hela-S3	cervix
27	chr14:65706800-65716200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:65707000-65708000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:65707000-65708000	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:65707000-65708000	Weak transcription	HepG2	liver
31	chr14:65707000-65708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:65707000-65708200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:65707000-65709200	Weak transcription	Stomach Mucosa	stomach
34	chr14:65707000-65709600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:65707000-65709800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:65707000-65709800	Weak transcription	Placenta	Placenta
37	chr14:65707000-65709800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:65707000-65710200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:65707000-65710400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:65707000-65710400	Weak transcription	NHDF-Ad	bronchial
41	chr14:65707000-65710600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:65707000-65710600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr14:65707000-65710800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:65707000-65716200	Weak transcription	Brain Anterior Caudate	brain
45	chr14:65707200-65708800	Weak transcription	HUVEC	blood vessel

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