Variant report

Variant	rs74065815
Chromosome Location	chr14:78346268-78346269
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	chr14:78344966..78346676-chr14:78382145..78384614,2	K562	blood:

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]
rs28653270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
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:58 , 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	chr14:78329000-78347600	Weak transcription	Brain Anterior Caudate	brain
13	chr14:78329000-78348400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:78333400-78348600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr14:78334600-78353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:78335800-78348400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
18	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
19	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:78340000-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:78340400-78353600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:78340600-78348200	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:78340600-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:78340600-78353400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:78340600-78353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:78340600-78353600	Weak transcription	Dnd41	blood
27	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
28	chr14:78341000-78349800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:78342200-78346400	Strong transcription	Primary T cells from cord blood	blood
30	chr14:78342200-78353400	Weak transcription	Aorta	Aorta
31	chr14:78342200-78353400	Weak transcription	Fetal Intestine Small	intestine
32	chr14:78342600-78346400	Weak transcription	Ovary	ovary
33	chr14:78342600-78348200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:78342600-78352600	Weak transcription	Spleen	Spleen
35	chr14:78342800-78348200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr14:78342800-78353600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:78343000-78346400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:78344800-78346400	Genic enhancers	Gastric	stomach
39	chr14:78344800-78347400	Enhancers	Pancreas	Pancrea
40	chr14:78345000-78353600	Weak transcription	Liver	Liver
41	chr14:78345200-78350400	Enhancers	Brain Germinal Matrix	brain
42	chr14:78345400-78346400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:78345400-78346600	Enhancers	Adipose Nuclei	Adipose
44	chr14:78345400-78346600	Enhancers	K562	blood
45	chr14:78345400-78350800	Enhancers	Left Ventricle	heart
46	chr14:78345600-78349200	Weak transcription	Stomach Mucosa	stomach
47	chr14:78345600-78350200	Enhancers	Fetal Heart	heart
48	chr14:78345800-78346400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:78345800-78346600	Enhancers	Right Atrium	heart
50	chr14:78345800-78348200	Weak transcription	Brain Angular Gyrus	brain

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