Variant report

Variant	rs17719258
Chromosome Location	chr5:58269240-58269241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12188697	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1353747	0.82[MEX][hapmap]
rs1400224	0.89[EUR][1000 genomes]
rs17291089	0.91[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58255200-58270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:58260200-58270200	Weak transcription	HSMMtube	muscle
3	chr5:58262400-58273400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:58263200-58270000	Weak transcription	Small Intestine	intestine
5	chr5:58263200-58271400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr5:58263800-58270000	Weak transcription	Left Ventricle	heart
7	chr5:58263800-58270200	Weak transcription	Brain Angular Gyrus	brain
8	chr5:58264000-58270200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:58264000-58270200	Weak transcription	Gastric	stomach
10	chr5:58264200-58270000	Weak transcription	Fetal Brain Female	brain
11	chr5:58264400-58270000	Genic enhancers	A549	lung
12	chr5:58264600-58270200	Weak transcription	Spleen	Spleen
13	chr5:58265200-58270200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr5:58265400-58270200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:58265600-58276600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr5:58265800-58270000	Weak transcription	Psoas Muscle	Psoas
17	chr5:58265800-58276200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:58266000-58287600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:58266800-58269800	Weak transcription	Fetal Brain Male	brain
20	chr5:58266800-58270000	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:58266800-58281200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:58267000-58269800	Weak transcription	Brain Anterior Caudate	brain
23	chr5:58267000-58270000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:58267000-58270000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:58267000-58270000	Weak transcription	Brain Substantia Nigra	brain
26	chr5:58267000-58270200	Weak transcription	Esophagus	oesophagus
27	chr5:58267200-58269400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:58267200-58270000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:58267400-58270000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr5:58267400-58270000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:58267400-58270200	Weak transcription	Thymus	Thymus
32	chr5:58267400-58273000	Strong transcription	Hela-S3	cervix
33	chr5:58267600-58269400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:58267600-58269800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:58267600-58270000	Weak transcription	Primary B cells from cord blood	blood
36	chr5:58267600-58270000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:58267600-58270000	Weak transcription	Fetal Heart	heart
38	chr5:58267600-58270400	Weak transcription	Brain Germinal Matrix	brain
39	chr5:58267600-58280000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:58267600-58282600	Strong transcription	Primary T cells from cord blood	blood
41	chr5:58267800-58269400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:58267800-58270000	Weak transcription	Liver	Liver
43	chr5:58267800-58276000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:58268000-58269800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:58268000-58270200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:58268000-58273800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:58268000-58278000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:58268000-58281800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:58268000-58288400	Weak transcription	Stomach Mucosa	stomach
50	chr5:58268200-58270000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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