Variant report

Variant	rs17127944
Chromosome Location	chr14:55244662-55244663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55165172..55166769-chr14:55243179..55246172,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17127987	1.00[CHB][hapmap]
rs17128017	1.00[CHB][hapmap]
rs17253577	1.00[CHB][hapmap]
rs17253584	1.00[CHB][hapmap]
rs2183080	1.00[CHB][hapmap]
rs55874539	1.00[ASN][1000 genomes]
rs58292420	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276819	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9323271	1.00[CHB][hapmap];1.00[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:100 , 50 per page) page: 1 2

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	chr14:55237600-55261200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:55238200-55245200	Enhancers	Fetal Heart	heart
5	chr14:55240000-55250400	Strong transcription	HepG2	liver
6	chr14:55240600-55251200	Weak transcription	Gastric	stomach
7	chr14:55240600-55253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:55240600-55254800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:55240600-55257000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55240800-55245600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:55240800-55250000	Weak transcription	Colonic Mucosa	Colon
12	chr14:55240800-55250800	Weak transcription	Esophagus	oesophagus
13	chr14:55240800-55253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:55240800-55256000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:55240800-55256400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:55240800-55256400	Weak transcription	Brain Angular Gyrus	brain
17	chr14:55240800-55259200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:55240800-55261600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr14:55240800-55261600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:55241000-55245600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:55241000-55249200	Weak transcription	Right Atrium	heart
22	chr14:55241000-55256400	Weak transcription	Ovary	ovary
23	chr14:55241000-55258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:55241000-55259200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:55241000-55260200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:55241000-55263200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr14:55241200-55257600	Weak transcription	K562	blood
28	chr14:55241200-55272200	Weak transcription	A549	lung
29	chr14:55241600-55248600	Strong transcription	Fetal Intestine Large	intestine
30	chr14:55241600-55248600	Strong transcription	Fetal Intestine Small	intestine
31	chr14:55241800-55245800	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr14:55241800-55246000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
33	chr14:55241800-55249000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:55241800-55257400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:55242400-55245800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr14:55242400-55246400	Enhancers	Liver	Liver
37	chr14:55243000-55245400	Weak transcription	Spleen	Spleen
38	chr14:55243000-55246800	Strong transcription	Placenta	Placenta
39	chr14:55243200-55249200	Strong transcription	Left Ventricle	heart
40	chr14:55243400-55245000	Strong transcription	Adipose Nuclei	Adipose
41	chr14:55243400-55246000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:55243400-55247800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:55243400-55251000	Weak transcription	Brain Substantia Nigra	brain
44	chr14:55243400-55253800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:55243400-55256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr14:55243600-55244800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:55243600-55247200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr14:55243600-55249200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:55243600-55250000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:55243600-55250800	Strong transcription	Colon Smooth Muscle	Colon

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