Variant report

Variant	rs17500731
Chromosome Location	chr5:14462890-14462891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14458813..14460961-chr5:14462601..14465115,3	K562	blood:
2	chr5:14460512..14463222-chr5:14469089..14471139,2	MCF-7	breast:
3	chr5:14462576..14465133-chr5:14664754..14667740,2	MCF-7	breast:
4	chr5:14457857..14460961-chr5:14462601..14465371,3	K562	blood:

Variant related genes	Relation type
ENSG00000154124	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17500808	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs32527	0.84[AMR][1000 genomes]
rs3898746	0.82[AMR][1000 genomes]
rs62345057	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62345058	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62345059	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62345860	0.80[EUR][1000 genomes]
rs62345871	0.80[EUR][1000 genomes]
rs62345872	0.80[EUR][1000 genomes]
rs62345873	0.80[EUR][1000 genomes]
rs62345874	0.80[EUR][1000 genomes]
rs62345875	0.80[EUR][1000 genomes]
rs62345879	0.80[EUR][1000 genomes]
rs62345881	0.80[EUR][1000 genomes]
rs62345882	0.80[EUR][1000 genomes]
rs62345883	0.80[EUR][1000 genomes]
rs6863759	0.80[EUR][1000 genomes]
rs6891562	0.80[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14446800-14511400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:14450600-14463600	Weak transcription	Small Intestine	intestine
3	chr5:14450800-14509000	Strong transcription	Primary B cells from peripheral blood	blood
4	chr5:14452000-14466400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:14452800-14473200	Weak transcription	Fetal Heart	heart
6	chr5:14453000-14464600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:14455000-14468800	Strong transcription	Lung	lung
8	chr5:14456200-14463400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr5:14456600-14465600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:14457200-14464000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:14457600-14464000	Strong transcription	Fetal Intestine Large	intestine
12	chr5:14457600-14469200	Strong transcription	GM12878-XiMat	blood
13	chr5:14457800-14463000	Strong transcription	Fetal Intestine Small	intestine
14	chr5:14457800-14463600	Strong transcription	NH-A	brain
15	chr5:14457800-14464000	Strong transcription	Primary B cells from cord blood	blood
16	chr5:14457800-14464000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:14457800-14469200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:14458000-14463400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:14458200-14509200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:14458400-14463400	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr5:14458400-14490000	Strong transcription	Adipose Nuclei	Adipose
22	chr5:14458600-14463000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:14458600-14490400	Strong transcription	Fetal Stomach	stomach
24	chr5:14458800-14463800	Strong transcription	Placenta	Placenta
25	chr5:14458800-14509000	Strong transcription	Liver	Liver
26	chr5:14458800-14510600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:14459000-14465800	Weak transcription	Fetal Kidney	kidney
28	chr5:14459200-14463400	Strong transcription	Gastric	stomach
29	chr5:14459200-14465000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:14459200-14466400	Strong transcription	Ovary	ovary
31	chr5:14459200-14466600	Strong transcription	Spleen	Spleen
32	chr5:14459200-14467400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:14459200-14467600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:14459200-14469000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:14459200-14469200	Strong transcription	Left Ventricle	heart
36	chr5:14459400-14463000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:14459400-14463800	Weak transcription	Stomach Mucosa	stomach
38	chr5:14459400-14508800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:14459400-14509000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:14459600-14463000	Strong transcription	Fetal Muscle Leg	muscle
41	chr5:14459600-14463400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:14459600-14464200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:14459600-14469200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:14460400-14463200	Strong transcription	Colonic Mucosa	Colon
45	chr5:14460400-14463200	Strong transcription	NHEK	skin
46	chr5:14460400-14463400	Strong transcription	Hela-S3	cervix
47	chr5:14460400-14463600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:14460400-14464400	Strong transcription	Fetal Brain Female	brain
49	chr5:14460400-14465400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:14460400-14465400	Strong transcription	Skeletal Muscle Male	skeletal muscle

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