Variant report

Variant	rs17054775
Chromosome Location	chr13:37543190-37543191
allele	A/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	chr13:37542648-37543357	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37540140..37543219-chr13:37571723..37575020,3	K562	blood:

Variant related genes	Relation type
ALG5	TF binding region
ENSG00000120697	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10507444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199957	0.94[YRI][hapmap];0.85[AFR][1000 genomes]
rs1199965	0.81[AFR][1000 genomes]
rs1199973	0.83[AFR][1000 genomes]
rs1199997	1.00[ASN][1000 genomes]
rs1199998	1.00[ASN][1000 genomes]
rs1200000	1.00[ASN][1000 genomes]
rs1200001	1.00[ASN][1000 genomes]
rs1200002	1.00[ASN][1000 genomes]
rs1200003	1.00[ASN][1000 genomes]
rs1208131	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs1336165	1.00[ASN][1000 genomes]
rs17054770	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17054829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17054838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17054925	1.00[ASN][1000 genomes]
rs17054972	1.00[ASN][1000 genomes]
rs1924421	1.00[ASN][1000 genomes]
rs2181788	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2485063	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs2769542	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs28542891	0.82[AFR][1000 genomes]
rs4624036	1.00[ASN][1000 genomes]
rs57549356	0.81[AFR][1000 genomes]
rs57670680	0.93[AFR][1000 genomes]
rs57719094	1.00[ASN][1000 genomes]
rs58282483	0.95[AFR][1000 genomes]
rs58470119	0.95[AFR][1000 genomes]
rs59899061	1.00[ASN][1000 genomes]
rs59901477	1.00[ASN][1000 genomes]
rs608385	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563506	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7320568	0.81[YRI][hapmap]
rs7329124	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs73533924	1.00[ASN][1000 genomes]
rs73543820	1.00[ASN][1000 genomes]
rs8001410	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547703	1.00[CHB][hapmap]
rs9547704	1.00[CHB][hapmap]
rs9594184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9603124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37519600-37561400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:37520600-37560800	Weak transcription	Small Intestine	intestine
3	chr13:37522600-37548800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:37522800-37547000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:37523000-37545600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr13:37523200-37558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:37524000-37563800	Weak transcription	Psoas Muscle	Psoas
8	chr13:37524600-37572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:37524800-37546400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:37525000-37560800	Weak transcription	Fetal Heart	heart
11	chr13:37525600-37544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:37526600-37556200	Weak transcription	Brain Angular Gyrus	brain
13	chr13:37526800-37559400	Weak transcription	Hela-S3	cervix
14	chr13:37528800-37546200	Strong transcription	Fetal Thymus	thymus
15	chr13:37529400-37546800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr13:37529400-37558200	Weak transcription	Gastric	stomach
17	chr13:37529600-37555600	Weak transcription	Stomach Mucosa	stomach
18	chr13:37530600-37545600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr13:37531800-37570000	Strong transcription	Dnd41	blood
20	chr13:37532000-37546000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr13:37532400-37545800	Strong transcription	Liver	Liver
22	chr13:37532400-37546200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr13:37533000-37546400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:37533400-37543400	Strong transcription	Primary B cells from cord blood	blood
25	chr13:37533400-37545400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:37533400-37546200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:37534000-37545600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr13:37534800-37543400	Strong transcription	Fetal Intestine Large	intestine
29	chr13:37534800-37546000	Strong transcription	Placenta	Placenta
30	chr13:37535000-37545800	Strong transcription	Adipose Nuclei	Adipose
31	chr13:37535200-37553600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr13:37535400-37549600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr13:37536000-37545400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr13:37536400-37546400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr13:37536600-37543200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:37536600-37543400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr13:37536800-37543200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr13:37537400-37544000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:37537400-37546200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:37538000-37543200	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr13:37539000-37544400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:37539000-37558400	Weak transcription	Colonic Mucosa	Colon
43	chr13:37539000-37561000	Weak transcription	Aorta	Aorta
44	chr13:37539200-37545200	Weak transcription	Lung	lung
45	chr13:37539200-37558000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:37539400-37545400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:37539400-37561000	Weak transcription	Right Ventricle	heart
48	chr13:37539400-37562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr13:37539600-37549000	Weak transcription	Ovary	ovary
50	chr13:37539600-37558200	Weak transcription	Brain Germinal Matrix	brain

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