Variant report

Variant	rs17127934
Chromosome Location	chr14:55242245-55242246
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55029820..55038276-chr14:55237466..55243367,18	K562	blood:
2	chr14:55029820..55035664-chr14:55234750..55242867,15	K562	blood:
3	chr14:55030996..55036222-chr14:55238607..55244336,16	MCF-7	breast:
4	chr14:55030476..55035831-chr14:55237622..55244655,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000020577	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10144632	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17737822	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60362659	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72713436	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9323270	0.97[ASN][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55231800-55245400	Weak transcription	Pancreas	Pancrea
2	chr14:55236600-55245400	Genic enhancers	Fetal Muscle Leg	muscle
3	chr14:55237200-55242800	Weak transcription	Fetal Brain Female	brain
4	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:55238200-55245200	Enhancers	Fetal Heart	heart
6	chr14:55239000-55244000	Enhancers	HMEC	breast
7	chr14:55239600-55243200	Enhancers	Primary B cells from peripheral blood	blood
8	chr14:55240000-55243200	Enhancers	NH-A	brain
9	chr14:55240000-55244000	Genic enhancers	NHEK	skin
10	chr14:55240000-55244200	Genic enhancers	Fetal Muscle Trunk	muscle
11	chr14:55240000-55250400	Strong transcription	HepG2	liver
12	chr14:55240200-55244400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:55240200-55244400	Genic enhancers	NHLF	lung
14	chr14:55240400-55242600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:55240600-55242800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:55240600-55243000	Weak transcription	Fetal Lung	lung
17	chr14:55240600-55243800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:55240600-55251200	Weak transcription	Gastric	stomach
19	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:55240800-55242800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:55240800-55242800	Weak transcription	Aorta	Aorta
24	chr14:55240800-55242800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr14:55240800-55242800	Weak transcription	Fetal Thymus	thymus
26	chr14:55240800-55242800	Weak transcription	GM12878-XiMat	blood
27	chr14:55240800-55243000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:55240800-55243000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:55240800-55244200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:55240800-55245600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:55240800-55250000	Weak transcription	Colonic Mucosa	Colon
32	chr14:55240800-55250800	Weak transcription	Esophagus	oesophagus
33	chr14:55240800-55253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
37	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr14:55241000-55242800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:55241000-55242800	Weak transcription	Brain Anterior Caudate	brain
42	chr14:55241000-55242800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:55241000-55242800	Weak transcription	Spleen	Spleen
44	chr14:55241000-55242800	Weak transcription	Hela-S3	cervix
45	chr14:55241000-55245600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:55241000-55249200	Weak transcription	Right Atrium	heart
47	chr14:55241000-55256400	Weak transcription	Ovary	ovary
48	chr14:55241000-55258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:55241000-55259200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:55241000-55260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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