Variant report

Variant	rs17500808
Chromosome Location	chr5:14472431-14472432
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:14469377-14473715	U87	brain:	n/a	n/a
2	POLR2A	chr5:14472338-14472571	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:14469339-14485909	U87	brain:	n/a	n/a
4	POLR2A	chr5:14467946-14476667	U87	brain:	n/a	n/a
5	POLR2A	chr5:14470521-14476667	U87	brain:	n/a	n/a
6	POLR2A	chr5:14471908-14472739	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14462998..14466746-chr5:14469451..14473739,5	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17500731	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs32527	0.84[AMR][1000 genomes]
rs3898746	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62345057	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62345058	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62345059	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62345860	0.91[EUR][1000 genomes]
rs62345871	0.91[EUR][1000 genomes]
rs62345872	0.91[EUR][1000 genomes]
rs62345873	0.91[EUR][1000 genomes]
rs62345874	0.91[EUR][1000 genomes]
rs62345875	0.91[EUR][1000 genomes]
rs62345879	0.91[EUR][1000 genomes]
rs62345881	0.91[EUR][1000 genomes]
rs62345882	0.91[EUR][1000 genomes]
rs62345883	0.91[EUR][1000 genomes]
rs6863759	0.91[EUR][1000 genomes]
rs6891562	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv4725	chr5:14469602-14514446	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	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	chr5:14450800-14509000	Strong transcription	Primary B cells from peripheral blood	blood
3	chr5:14452800-14473200	Weak transcription	Fetal Heart	heart
4	chr5:14458200-14509200	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:14458400-14490000	Strong transcription	Adipose Nuclei	Adipose
6	chr5:14458600-14490400	Strong transcription	Fetal Stomach	stomach
7	chr5:14458800-14509000	Strong transcription	Liver	Liver
8	chr5:14458800-14510600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:14459400-14508800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:14459400-14509000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:14460600-14490600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr5:14460800-14476000	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:14463200-14481200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:14464200-14474200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:14464200-14475800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:14464400-14474800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:14464400-14475000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:14464400-14487800	Strong transcription	Fetal Intestine Large	intestine
19	chr5:14464800-14475600	Strong transcription	Osteobl	bone
20	chr5:14464800-14487400	Strong transcription	Primary B cells from cord blood	blood
21	chr5:14464800-14511400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:14465200-14474200	Weak transcription	Small Intestine	intestine
23	chr5:14465200-14474400	Strong transcription	HMEC	breast
24	chr5:14465200-14475800	Strong transcription	NHLF	lung
25	chr5:14465200-14487600	Strong transcription	A549	lung
26	chr5:14465200-14488800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:14465200-14494400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:14465400-14475400	Strong transcription	HUVEC	blood vessel
29	chr5:14465400-14477000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:14465400-14483800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr5:14465600-14487800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:14465800-14483600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:14466200-14476800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:14466200-14486200	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:14466400-14473800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:14466400-14473800	Weak transcription	Colonic Mucosa	Colon
37	chr5:14466400-14474200	Weak transcription	Esophagus	oesophagus
38	chr5:14466400-14474200	Weak transcription	Gastric	stomach
39	chr5:14466400-14480800	Weak transcription	Thymus	Thymus
40	chr5:14466400-14481200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:14466600-14473800	Weak transcription	Spleen	Spleen
42	chr5:14466600-14474000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:14466600-14480800	Weak transcription	Psoas Muscle	Psoas
44	chr5:14467000-14473200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:14467600-14474000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:14468000-14483600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:14468200-14483800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr5:14468200-14509000	Strong transcription	Ovary	ovary
49	chr5:14468400-14511000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:14468600-14474200	Strong transcription	NH-A	brain

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