Variant report

Variant	rs56373366
Chromosome Location	chr14:71821283-71821284
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	chr14:71815345..71818974-chr14:71820775..71823679,4	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs55763740	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55898000	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59476175	1.00[AMR][1000 genomes]
rs59553790	1.00[AMR][1000 genomes]
rs60615402	1.00[AMR][1000 genomes]
rs61336865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060325	1.00[AMR][1000 genomes]
rs74060342	1.00[AMR][1000 genomes]
rs74060343	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060348	1.00[AMR][1000 genomes]
rs74060350	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74060357	1.00[AMR][1000 genomes]
rs74060360	1.00[AMR][1000 genomes]
rs74060363	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71795000-71821800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:71795200-71821600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:71795800-71821400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:71797200-71821800	Weak transcription	HSMMtube	muscle
5	chr14:71800600-71822200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr14:71805200-71822200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:71805400-71828600	Weak transcription	Dnd41	blood
8	chr14:71806600-71838400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:71807000-71821600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:71807600-71822000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:71808200-71822200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:71808400-71822000	Weak transcription	Small Intestine	intestine
13	chr14:71808400-71829800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:71808600-71821400	Weak transcription	Primary B cells from cord blood	blood
15	chr14:71808600-71821600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:71808800-71838600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:71810600-71822400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr14:71810800-71822200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:71812000-71821600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:71812000-71821800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:71812200-71821600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:71812200-71821600	Weak transcription	Ovary	ovary
23	chr14:71812200-71822600	Weak transcription	Esophagus	oesophagus
24	chr14:71812200-71838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:71813200-71822000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:71813400-71829000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:71813600-71821600	Weak transcription	Liver	Liver
28	chr14:71813600-71822800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:71814200-71821400	Weak transcription	NHLF	lung
30	chr14:71816200-71821600	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:71816200-71827800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:71816600-71826800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:71816800-71821400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:71816800-71822600	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:71817000-71821600	Weak transcription	Right Atrium	heart
36	chr14:71818200-71821600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:71818200-71822200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:71818400-71821400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:71818400-71821600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:71818400-71821600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:71818800-71821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr14:71819000-71825400	Weak transcription	Thymus	Thymus
43	chr14:71819800-71821600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:71820000-71821600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:71820000-71822000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:71820000-71822600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr14:71820000-71833600	Enhancers	Primary B cells from peripheral blood	blood
48	chr14:71820200-71821600	Weak transcription	Left Ventricle	heart
49	chr14:71820200-71838600	Weak transcription	Hela-S3	cervix
50	chr14:71820400-71821400	Weak transcription	Muscle Satellite Cultured Cells	--

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