Variant report

Variant	rs56249119
Chromosome Location	chr14:78327006-78327007
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	chr14:78319863..78321612-chr14:78326389..78328976,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11159292	0.91[EUR][1000 genomes]
rs11159293	1.00[EUR][1000 genomes]
rs12100847	1.00[EUR][1000 genomes]
rs17106436	1.00[EUR][1000 genomes]
rs17106446	1.00[EUR][1000 genomes]
rs28445375	1.00[EUR][1000 genomes]
rs28583578	1.00[EUR][1000 genomes]
rs28794568	0.91[EUR][1000 genomes]
rs35636358	1.00[EUR][1000 genomes]
rs55637975	1.00[EUR][1000 genomes]
rs55854915	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55898805	1.00[EUR][1000 genomes]
rs55942240	1.00[EUR][1000 genomes]
rs55970713	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56014836	1.00[EUR][1000 genomes]
rs56099290	1.00[EUR][1000 genomes]
rs56202430	1.00[EUR][1000 genomes]
rs56244834	0.88[EUR][1000 genomes]
rs56404400	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58157110	0.83[EUR][1000 genomes]
rs7149496	0.91[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:54 , 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	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
9	chr14:78306600-78330400	Weak transcription	Dnd41	blood
10	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:78320800-78342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:78321400-78342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:78321800-78335400	Weak transcription	Psoas Muscle	Psoas
16	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
17	chr14:78322000-78342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:78322000-78342600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:78322400-78327200	Weak transcription	Colonic Mucosa	Colon
21	chr14:78322800-78331600	Enhancers	K562	blood
22	chr14:78323400-78339600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:78323600-78330600	Weak transcription	Aorta	Aorta
24	chr14:78323600-78331600	Weak transcription	Primary B cells from cord blood	blood
25	chr14:78324000-78328200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr14:78324200-78327600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:78324200-78328400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:78324400-78328800	Weak transcription	Right Ventricle	heart
31	chr14:78324400-78339800	Weak transcription	Ovary	ovary
32	chr14:78324600-78327200	Weak transcription	Brain Anterior Caudate	brain
33	chr14:78324800-78330400	Weak transcription	Stomach Mucosa	stomach
34	chr14:78325000-78328200	Strong transcription	Primary T cells from cord blood	blood
35	chr14:78325000-78332400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:78325000-78345000	Weak transcription	Brain Angular Gyrus	brain
37	chr14:78325200-78327200	Strong transcription	Gastric	stomach
38	chr14:78325200-78327400	Strong transcription	Fetal Stomach	stomach
39	chr14:78325200-78329200	Strong transcription	Fetal Intestine Small	intestine
40	chr14:78325400-78328000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:78325600-78327200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr14:78325800-78330800	Weak transcription	Spleen	Spleen
43	chr14:78326000-78328000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr14:78326400-78327600	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:78326400-78328000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:78326400-78339800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr14:78326400-78342000	Weak transcription	Adipose Nuclei	Adipose
48	chr14:78326600-78328000	Weak transcription	Brain Substantia Nigra	brain
49	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
50	chr14:78326800-78328200	Weak transcription	Fetal Heart	heart

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