Variant report

Variant	rs17115580
Chromosome Location	chr1:57773089-57773090
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	chr1:57773013-57773711	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
DAB1	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs11206975	1.00[CEU][hapmap]
rs11206981	1.00[CEU][hapmap]
rs12032549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12408256	1.00[CEU][hapmap]
rs12561986	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12562392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12562394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12562555	0.86[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs12562609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12562847	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12562930	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12563280	1.00[CEU][hapmap]
rs12563894	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12564258	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs12564278	1.00[CEU][hapmap]
rs12564961	1.00[CEU][hapmap]
rs12565921	0.83[ASN][1000 genomes]
rs12566131	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes]
rs12566162	1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs12566320	1.00[CEU][hapmap]
rs12567335	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12567531	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12567904	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12567967	1.00[EUR][1000 genomes]
rs12568148	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12568708	0.83[ASN][1000 genomes]
rs12568862	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12568928	1.00[EUR][1000 genomes]
rs12568979	1.00[EUR][1000 genomes]
rs12569224	1.00[EUR][1000 genomes]
rs17115105	1.00[CEU][hapmap]
rs17115108	1.00[CEU][hapmap]
rs17115146	1.00[CEU][hapmap]
rs17115155	1.00[CEU][hapmap]
rs17115222	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17115397	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes]
rs17115441	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs17115445	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs17115587	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17420013	1.00[CEU][hapmap]
rs17420216	1.00[CEU][hapmap]
rs17421219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17421839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17422039	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17455073	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs17455469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17455616	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17455728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17455840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs197599	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs197606	0.86[JPT][hapmap]
rs197623	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs59762173	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61765330	0.86[EUR][1000 genomes]
rs61765331	0.86[EUR][1000 genomes]
rs61765332	0.86[EUR][1000 genomes]
rs61765561	1.00[EUR][1000 genomes]
rs61765563	1.00[EUR][1000 genomes]
rs61765578	1.00[EUR][1000 genomes]
rs61765580	1.00[EUR][1000 genomes]
rs61765581	1.00[EUR][1000 genomes]
rs61765586	1.00[EUR][1000 genomes]
rs61765589	1.00[EUR][1000 genomes]
rs61765590	1.00[EUR][1000 genomes]
rs61765591	1.00[EUR][1000 genomes]
rs61765592	1.00[EUR][1000 genomes]
rs61765593	1.00[EUR][1000 genomes]
rs61765594	1.00[EUR][1000 genomes]
rs61765595	1.00[EUR][1000 genomes]
rs61765623	1.00[EUR][1000 genomes]
rs61765656	0.83[ASN][1000 genomes]
rs61765658	0.83[ASN][1000 genomes]
rs61765659	0.83[ASN][1000 genomes]
rs61767360	0.83[ASN][1000 genomes]
rs61767361	0.85[ASN][1000 genomes]
rs61767362	0.87[ASN][1000 genomes]
rs61767363	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767364	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767365	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767367	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767368	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767384	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767385	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767386	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767387	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767388	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767389	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767390	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767392	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61767393	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61767394	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61767395	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61767396	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61767398	0.85[ASN][1000 genomes]
rs61767399	0.95[ASN][1000 genomes]
rs61767400	0.95[ASN][1000 genomes]
rs61767401	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61767411	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61767412	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61767514	1.00[EUR][1000 genomes]
rs61767515	1.00[EUR][1000 genomes]
rs61767516	1.00[EUR][1000 genomes]
rs61767517	1.00[EUR][1000 genomes]
rs6695086	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	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57770000-57775400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57770800-57776000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57771000-57773400	Weak transcription	HepG2	liver
4	chr1:57771000-57773800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:57771600-57774000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:57771800-57773800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:57771800-57773800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:57771800-57774400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:57772000-57773800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:57772000-57774000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:57772600-57773200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:57772600-57773200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:57772600-57773400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:57772600-57773800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr1:57772600-57773800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:57772600-57773800	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr1:57772600-57774000	Flanking Active TSS	Fetal Intestine Small	intestine
18	chr1:57772800-57773200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:57772800-57773400	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:57773000-57773400	Enhancers	Spleen	Spleen
21	chr1:57773000-57773600	Enhancers	NHEK	skin
22	chr1:57773000-57778400	Weak transcription	Brain Angular Gyrus	brain

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