Variant report

Variant	rs1988781
Chromosome Location	chr14:64007057-64007058
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64004593..64008285-chr14:64011682..64013819,3	K562	blood:
2	chr14:64002202..64003866-chr14:64005785..64007726,2	K562	blood:
3	chr14:64007045..64008979-chr14:64009099..64011575,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261242	Chromatin interaction
ENSG00000154001	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11847169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1472504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17101253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28894732	0.80[AFR][1000 genomes]
rs57530734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58308869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59282502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59443470	0.90[AFR][1000 genomes]
rs7142618	1.00[AMR][1000 genomes]
rs7146697	1.00[AMR][1000 genomes]
rs7157776	1.00[AMR][1000 genomes]
rs72716326	0.80[AFR][1000 genomes]
rs8014212	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
2	chr14:63970200-64008600	Weak transcription	Aorta	Aorta
3	chr14:63972600-64008800	Weak transcription	Esophagus	oesophagus
4	chr14:63974800-64007800	Weak transcription	Fetal Brain Male	brain
5	chr14:63975000-64008800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:63980800-64008000	Weak transcription	Small Intestine	intestine
7	chr14:63981800-64008000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:63988800-64008200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:63990000-64008800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:63991400-64007800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:63991600-64008200	Weak transcription	Colonic Mucosa	Colon
12	chr14:63991800-64008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:63991800-64008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:63991800-64008800	Weak transcription	Gastric	stomach
15	chr14:63991800-64008800	Weak transcription	Pancreas	Pancrea
16	chr14:63992000-64007800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:63992000-64008800	Weak transcription	Psoas Muscle	Psoas
18	chr14:63992200-64007600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:63992400-64008000	Weak transcription	Right Ventricle	heart
20	chr14:63992600-64007600	Weak transcription	Fetal Heart	heart
21	chr14:63996800-64008000	Weak transcription	Stomach Mucosa	stomach
22	chr14:63998600-64007600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:63999800-64008600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:63999800-64009000	Weak transcription	Spleen	Spleen
25	chr14:64002000-64008800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:64002200-64007600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:64002400-64008200	Strong transcription	HSMM	muscle
28	chr14:64003200-64007200	Strong transcription	Fetal Stomach	stomach
29	chr14:64003400-64007800	Weak transcription	Brain Substantia Nigra	brain
30	chr14:64003600-64008000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr14:64004600-64007200	Strong transcription	Fetal Intestine Small	intestine
32	chr14:64004600-64007400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:64005000-64007600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:64005000-64007600	Weak transcription	Brain Germinal Matrix	brain
35	chr14:64005000-64007600	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:64005000-64007800	Weak transcription	Brain Anterior Caudate	brain
37	chr14:64005000-64008000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr14:64005000-64008200	Weak transcription	Primary T cells from cord blood	blood
39	chr14:64005200-64008800	Weak transcription	Left Ventricle	heart
40	chr14:64005200-64008800	Weak transcription	Ovary	ovary
41	chr14:64005400-64007800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:64005400-64008000	Weak transcription	Thymus	Thymus
43	chr14:64006200-64007600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:64006200-64007800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:64006400-64007400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:64006400-64007600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:64006400-64007600	Weak transcription	Adipose Nuclei	Adipose
48	chr14:64006400-64007600	Weak transcription	Colon Smooth Muscle	Colon
49	chr14:64006400-64007600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:64006400-64007600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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