Variant report

Variant	rs2945155
Chromosome Location	chr1:85045094-85045095
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:85044743-85045262	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85034081..85036435-chr1:85045060..85046593,2	MCF-7	breast:
2	chr1:84944451..84947058-chr1:85044962..85047823,2	K562	blood:
3	chr1:85037908..85041782-chr1:85043004..85047571,5	MCF-7	breast:
4	chr1:85035171..85039138-chr1:85044940..85048929,5	K562	blood:
5	chr1:85038597..85041705-chr1:85043039..85046332,5	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTBS-2	chr1:85044729-85045158	NONHSAT004217

No data

Variant related genes	Relation type
CTBS	TF binding region
ENSG00000117133	Chromatin interaction
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11163980	0.81[CHB][hapmap]
rs11163981	0.81[CHB][hapmap]
rs1144276	0.80[CHB][hapmap]
rs12071149	0.81[CHB][hapmap]
rs12128801	0.81[CHB][hapmap]
rs12403545	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs1246159	0.81[CHB][hapmap]
rs1246253	0.87[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs1246254	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs1246255	0.81[ASN][1000 genomes]
rs1400777	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1850508	0.87[EUR][1000 genomes]
rs1850509	0.86[EUR][1000 genomes]
rs1911159	0.81[CHB][hapmap]
rs2007454	0.85[EUR][1000 genomes]
rs2303306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2303307	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2389743	0.81[ASN][1000 genomes]
rs2659173	0.81[CHB][hapmap]
rs2794218	0.81[CHB][hapmap]
rs2911588	0.93[ASN][1000 genomes]
rs2911589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2911590	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911591	0.98[ASN][1000 genomes]
rs2911592	0.94[ASN][1000 genomes]
rs2911593	0.83[ASN][1000 genomes]
rs2911595	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2911598	0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs2911599	0.94[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2911603	0.87[EUR][1000 genomes]
rs2911604	0.87[EUR][1000 genomes]
rs2911605	0.87[EUR][1000 genomes]
rs2943663	0.87[EUR][1000 genomes]
rs2943670	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2943675	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2943676	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2943677	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2943678	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945140	0.87[EUR][1000 genomes]
rs2945142	0.87[EUR][1000 genomes]
rs2945146	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945148	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945149	0.90[EUR][1000 genomes]
rs2945150	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945152	0.94[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2945153	0.96[ASN][1000 genomes]
rs2945158	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945160	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2994937	0.83[ASN][1000 genomes]
rs2994940	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2994943	0.89[EUR][1000 genomes]
rs2994944	0.91[EUR][1000 genomes]
rs2994946	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2994947	0.90[EUR][1000 genomes]
rs2994953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2994954	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs2994955	0.80[ASN][1000 genomes]
rs3021402	0.87[CHB][hapmap]
rs312397	0.81[CHB][hapmap]
rs41299545	1.00[ASN][1000 genomes]
rs4906995	0.81[CHB][hapmap]
rs4907078	0.81[CHB][hapmap]
rs6576713	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs6692765	0.93[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs6704211	0.81[CHB][hapmap]
rs7516200	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2945155	CTBS	cis	multi-tissue	Pritchard

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85040000-85049400	Weak transcription	Spleen	Spleen
2	chr1:85040600-85048400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:85040800-85046600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:85040800-85048200	Weak transcription	Primary B cells from cord blood	blood
5	chr1:85040800-85048600	Weak transcription	Gastric	stomach
6	chr1:85040800-85049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:85041000-85048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:85041000-85048800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:85041000-85051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:85041200-85046400	Weak transcription	K562	blood
11	chr1:85041200-85047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:85041200-85049400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:85041400-85049200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:85042600-85045200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:85042800-85048600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr1:85043000-85050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:85044200-85050800	Weak transcription	Monocytes-CD14+_RO01746	blood

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