Variant report

Variant	rs17428704
Chromosome Location	chr5:14434264-14434265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16903421	0.84[GIH][hapmap];0.88[TSI][hapmap]
rs16903453	0.92[GIH][hapmap];0.90[TSI][hapmap]
rs16903509	0.82[EUR][1000 genomes]
rs249808	0.84[EUR][1000 genomes]
rs26185	0.95[AFR][1000 genomes]
rs26186	1.00[LWK][hapmap];0.93[MKK][hapmap]
rs28416767	0.82[EUR][1000 genomes]
rs28482202	0.82[EUR][1000 genomes]
rs28548493	0.82[EUR][1000 genomes]
rs55812347	0.91[AFR][1000 genomes]
rs58260094	0.82[EUR][1000 genomes]
rs62345048	0.82[EUR][1000 genomes]
rs62345051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345052	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv461981	chr5:14426611-14509903	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv597240	chr5:14426611-14509903	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14413600-14445000	Weak transcription	Small Intestine	intestine
2	chr5:14422200-14434800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:14422200-14452200	Weak transcription	Thymus	Thymus
4	chr5:14425000-14460800	Weak transcription	Primary T cells from cord blood	blood
5	chr5:14425600-14435200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:14425800-14445800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:14426000-14440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:14426400-14437000	Weak transcription	HepG2	liver
9	chr5:14426800-14438400	Weak transcription	Hela-S3	cervix
10	chr5:14427400-14435800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:14427800-14439800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:14427800-14440800	Weak transcription	Gastric	stomach
13	chr5:14428000-14435000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:14428000-14436200	Weak transcription	Spleen	Spleen
15	chr5:14428000-14441200	Weak transcription	Esophagus	oesophagus
16	chr5:14428000-14441400	Weak transcription	Placenta	Placenta
17	chr5:14428200-14434800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:14428200-14438000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:14428200-14440400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:14428600-14435200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:14428800-14434600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:14429200-14435000	Weak transcription	Lung	lung
23	chr5:14429200-14435200	Weak transcription	Right Ventricle	heart
24	chr5:14429200-14435600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:14429200-14440400	Weak transcription	Colonic Mucosa	Colon
26	chr5:14429400-14438200	Weak transcription	HUVEC	blood vessel
27	chr5:14429400-14439800	Weak transcription	HMEC	breast
28	chr5:14429400-14440400	Weak transcription	Brain Angular Gyrus	brain
29	chr5:14429400-14440400	Weak transcription	Brain Germinal Matrix	brain
30	chr5:14429600-14437800	Weak transcription	Adipose Nuclei	Adipose
31	chr5:14429600-14437800	Weak transcription	Liver	Liver
32	chr5:14429600-14438200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:14429600-14439200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:14429600-14440400	Weak transcription	Brain Anterior Caudate	brain
35	chr5:14430000-14440200	Weak transcription	Brain Substantia Nigra	brain
36	chr5:14430000-14440400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:14430200-14436000	Weak transcription	Fetal Brain Female	brain
38	chr5:14430200-14438400	Weak transcription	Pancreas	Pancrea
39	chr5:14430200-14438600	Strong transcription	HSMM	muscle
40	chr5:14430200-14439600	Weak transcription	Fetal Lung	lung
41	chr5:14430200-14439800	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:14430200-14440200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:14430200-14440400	Weak transcription	Fetal Heart	heart
44	chr5:14431200-14442800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr5:14431400-14439800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:14431400-14440200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:14431600-14435000	Weak transcription	GM12878-XiMat	blood
48	chr5:14431600-14440400	Weak transcription	Aorta	Aorta
49	chr5:14431600-14440400	Weak transcription	Left Ventricle	heart
50	chr5:14431600-14446000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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