Variant report

Variant	rs28653270
Chromosome Location	chr14:78329296-78329297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78327949..78329774-chr14:78457367..78458415,8	MCF-7	breast:
2	chr14:78327978..78330671-chr14:78388681..78391406,2	K562	blood:
3	chr14:78329160..78329700-chr14:78457466..78458180,2	K562	blood:
4	chr14:78327427..78330329-chr14:78335652..78337700,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10141302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151802	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11621071	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11622333	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11623841	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11624543	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11625402	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17106501	0.84[AFR][1000 genomes]
rs17753195	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1972615	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28566696	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58092208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58940899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60021537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60330258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7359160	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74063702	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065816	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74065820	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9323655	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9323656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
2	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
3	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78302200-78331000	Weak transcription	Liver	Liver
6	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
8	chr14:78306600-78330400	Weak transcription	Dnd41	blood
9	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:78320800-78342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:78321400-78342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:78321800-78335400	Weak transcription	Psoas Muscle	Psoas
15	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
16	chr14:78322000-78342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:78322000-78342600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:78322800-78331600	Enhancers	K562	blood
20	chr14:78323400-78339600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr14:78323600-78330600	Weak transcription	Aorta	Aorta
22	chr14:78323600-78331600	Weak transcription	Primary B cells from cord blood	blood
23	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:78324400-78339800	Weak transcription	Ovary	ovary
26	chr14:78324800-78330400	Weak transcription	Stomach Mucosa	stomach
27	chr14:78325000-78332400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:78325000-78345000	Weak transcription	Brain Angular Gyrus	brain
29	chr14:78325800-78330800	Weak transcription	Spleen	Spleen
30	chr14:78326400-78339800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:78326400-78342000	Weak transcription	Adipose Nuclei	Adipose
32	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
33	chr14:78327000-78338000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:78327000-78339400	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:78327000-78342000	Weak transcription	Lung	lung
36	chr14:78327200-78330600	Weak transcription	Gastric	stomach
37	chr14:78327200-78348600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr14:78327400-78331800	Weak transcription	Fetal Stomach	stomach
39	chr14:78327600-78329400	Enhancers	Brain Hippocampus Middle	brain
40	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
41	chr14:78328000-78331800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr14:78328000-78338200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:78328200-78330400	Weak transcription	Primary T cells from cord blood	blood
45	chr14:78328200-78330400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr14:78329000-78345000	Weak transcription	Brain Substantia Nigra	brain
47	chr14:78329000-78345800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:78329000-78347600	Weak transcription	Brain Anterior Caudate	brain
49	chr14:78329000-78348400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:78329200-78329400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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