Variant report

Variant	rs28566696
Chromosome Location	chr14:78351911-78351912
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	chr14:78348937..78352037-chr14:78352512..78354999,3	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];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10151802	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11621071	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11622333	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11623841	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11624543	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11625402	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17106501	0.84[AFR][1000 genomes]
rs17753195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1972615	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28653270	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58092208	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58940899	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60021537	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60330258	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7359160	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74063702	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74065815	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74065816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74065820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9323655	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9323656	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[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:74 , 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	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
7	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
8	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:78334600-78353400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr14:78335800-78358600	Weak transcription	HSMMtube	muscle
11	chr14:78336400-78354200	Weak transcription	Fetal Intestine Large	intestine
12	chr14:78339600-78353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:78340000-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:78340400-78353600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:78340600-78353400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:78340600-78353400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:78340600-78353600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr14:78340600-78353600	Weak transcription	Dnd41	blood
19	chr14:78340800-78354200	Weak transcription	Primary B cells from cord blood	blood
20	chr14:78342200-78353400	Weak transcription	Aorta	Aorta
21	chr14:78342200-78353400	Weak transcription	Fetal Intestine Small	intestine
22	chr14:78342600-78352600	Weak transcription	Spleen	Spleen
23	chr14:78342800-78353600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:78345000-78353600	Weak transcription	Liver	Liver
25	chr14:78346400-78352800	Weak transcription	Primary T cells from cord blood	blood
26	chr14:78346600-78353400	Weak transcription	Ovary	ovary
27	chr14:78346600-78375600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:78346800-78353400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:78347200-78352400	Weak transcription	Gastric	stomach
30	chr14:78347200-78366000	Weak transcription	Psoas Muscle	Psoas
31	chr14:78347400-78353600	Weak transcription	Pancreas	Pancrea
32	chr14:78347800-78353400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:78348000-78356400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:78348800-78353400	Weak transcription	Lung	lung
35	chr14:78348800-78353600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:78349000-78352200	Enhancers	K562	blood
37	chr14:78349200-78352800	Weak transcription	Fetal Stomach	stomach
38	chr14:78349200-78355200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:78349200-78355800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:78349200-78356000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:78349200-78356000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:78349200-78358200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:78349200-78397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:78349400-78354400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:78349400-78355400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:78349400-78378000	Weak transcription	Fetal Brain Female	brain
48	chr14:78349800-78358400	Weak transcription	Stomach Mucosa	stomach
49	chr14:78350000-78355800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:78350200-78353400	Weak transcription	Stomach Smooth Muscle	stomach

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