Variant report

Variant	rs55708480
Chromosome Location	chr14:78348112-78348113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78338677..78341150-chr14:78346418..78348981,2	K562	blood:
2	chr14:78346765..78348633-chr14:78356131..78358979,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10139828	0.89[EUR][1000 genomes]
rs10150706	0.89[EUR][1000 genomes]
rs11848126	0.89[ASN][1000 genomes]
rs11848358	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17106478	0.89[ASN][1000 genomes]
rs17106499	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17106558	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1862125	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28489182	0.88[EUR][1000 genomes]
rs28613643	0.89[ASN][1000 genomes]
rs55898434	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55956517	0.89[EUR][1000 genomes]
rs55967811	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55976930	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56051443	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57859162	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61050485	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61053946	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7153025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7160485	0.89[ASN][1000 genomes]
rs72688844	0.89[EUR][1000 genomes]
rs8009704	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8018233	0.89[EUR][1000 genomes]
rs8018945	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9972189	0.89[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
3	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
5	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
9	chr14:78327200-78348600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
11	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:78329000-78348400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:78333400-78348600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:78334600-78353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:78335800-78348400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
17	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
18	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:78340000-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:78340400-78353600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:78340600-78348200	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:78340600-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:78340600-78353400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:78340600-78353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:78340600-78353600	Weak transcription	Dnd41	blood
26	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
27	chr14:78341000-78349800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:78342200-78353400	Weak transcription	Aorta	Aorta
29	chr14:78342200-78353400	Weak transcription	Fetal Intestine Small	intestine
30	chr14:78342600-78348200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:78342600-78352600	Weak transcription	Spleen	Spleen
32	chr14:78342800-78348200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:78342800-78353600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:78345000-78353600	Weak transcription	Liver	Liver
35	chr14:78345200-78350400	Enhancers	Brain Germinal Matrix	brain
36	chr14:78345400-78350800	Enhancers	Left Ventricle	heart
37	chr14:78345600-78349200	Weak transcription	Stomach Mucosa	stomach
38	chr14:78345600-78350200	Enhancers	Fetal Heart	heart
39	chr14:78345800-78348200	Weak transcription	Brain Angular Gyrus	brain
40	chr14:78345800-78348200	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:78345800-78348200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:78346000-78348200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:78346200-78348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:78346200-78348400	Weak transcription	Brain Substantia Nigra	brain
45	chr14:78346400-78348600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:78346400-78348600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:78346400-78352800	Weak transcription	Primary T cells from cord blood	blood
48	chr14:78346600-78348400	Weak transcription	Adipose Nuclei	Adipose
49	chr14:78346600-78348600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:78346600-78349000	Weak transcription	K562	blood

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