Variant report

Variant	rs2945157
Chromosome Location	chr1:85042722-85042723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:85042680-85042830	HepG2	liver:	n/a	n/a
2	CTCF	chr1:85042720-85042870	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr1:85042660-85042810	HEK293	kidney:	n/a	n/a
4	CTCF	chr1:85042700-85042850	NHEK	skin:	n/a	n/a
5	CTCF	chr1:85042720-85042870	MCF-7	breast:	n/a	n/a
6	CTCF	chr1:85042680-85042830	HEEpiC	esophagus:	n/a	n/a
7	CTCF	chr1:85042720-85042870	HPAF	blood vessel:	n/a	n/a
8	CTCF	chr1:85042720-85042870	WERI-Rb-1	eye:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
2	chr1:85042003..85043678-chr1:85045962..85047667,2	K562	blood:
3	chr1:85038138..85040810-chr1:85042650..85044327,2	K562	blood:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1246156	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1246256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1911157	1.00[AMR][1000 genomes]
rs2135552	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2659168	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911596	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2943667	0.93[AFR][1000 genomes]
rs2945154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2945159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2994952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3096444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312396	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7511674	1.00[AFR][1000 genomes];1.00[AMR][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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85040000-85049400	Weak transcription	Spleen	Spleen
2	chr1:85040600-85043200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:85040600-85048400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:85040800-85046600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:85040800-85048200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:85040800-85048600	Weak transcription	Gastric	stomach
7	chr1:85040800-85049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:85041000-85043400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:85041000-85044400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:85041000-85048600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:85041000-85048800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:85041000-85051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:85041200-85046400	Weak transcription	K562	blood
14	chr1:85041200-85047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:85041200-85049400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:85041400-85049200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:85042400-85042800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:85042400-85043200	Enhancers	NHEK	skin
19	chr1:85042600-85042800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:85042600-85042800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:85042600-85043000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:85042600-85043000	Enhancers	HMEC	breast
23	chr1:85042600-85043200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:85042600-85044200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:85042600-85045200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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