Variant report

Variant	rs73319431
Chromosome Location	chr14:78293357-78293358
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17106214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58016276	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58590201	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58620350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59215192	1.00[AMR][1000 genomes]
rs59532454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60806343	1.00[EUR][1000 genomes]
rs7141447	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307387	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307598	1.00[EUR][1000 genomes]
rs73309307	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309329	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319430	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319432	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319433	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319436	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319440	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014573	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022673	0.85[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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
2	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
3	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:78283000-78293400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:78283200-78301800	Weak transcription	Small Intestine	intestine
6	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
7	chr14:78283800-78297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:78284000-78299400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:78284200-78298000	Weak transcription	HepG2	liver
10	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
11	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:78284800-78300800	Weak transcription	Fetal Brain Male	brain
13	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:78286200-78299000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:78286200-78301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:78286200-78303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:78286400-78293400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:78286400-78294000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:78286400-78299200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:78286400-78300400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:78286400-78303000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:78286400-78305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:78287000-78297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:78287000-78301400	Weak transcription	Right Ventricle	heart
26	chr14:78287000-78309400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr14:78287000-78309600	Weak transcription	Osteobl	bone
28	chr14:78288600-78299400	Weak transcription	GM12878-XiMat	blood
29	chr14:78288800-78295200	Weak transcription	Primary B cells from cord blood	blood
30	chr14:78289200-78296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:78289200-78297000	Weak transcription	Aorta	Aorta
32	chr14:78289200-78301200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr14:78289200-78303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:78289400-78293800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:78289400-78294600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:78289400-78296600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:78289400-78297000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:78289400-78298600	Weak transcription	Brain Angular Gyrus	brain
39	chr14:78289400-78298600	Weak transcription	Brain Substantia Nigra	brain
40	chr14:78289400-78300600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr14:78289400-78301000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:78289400-78301800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr14:78289400-78305000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:78289400-78305200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:78289400-78305200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:78289600-78295400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr14:78289600-78295400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr14:78289600-78295400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:78289600-78295600	Weak transcription	Liver	Liver
50	chr14:78289600-78296000	Weak transcription	Brain Hippocampus Middle	brain

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