Variant report

Variant	rs856059
Chromosome Location	chr1:158977712-158977713
allele	C/T
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	FOS	chr1:158977600-158977780	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr1:158977571-158977949	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr1:158977584-158977889	HepG2	liver:	n/a	chr1:158977685-158977696 chr1:158977720-158977731
4	STAT3	chr1:158977584-158977719	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr1:158977586-158977904	IMR90	lung:	n/a	chr1:158977685-158977696 chr1:158977720-158977731
6	FOS	chr1:158977620-158977848	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr1:158977646-158977828	H1-hESC	embryonic stem cell:	n/a	chr1:158977685-158977696 chr1:158977720-158977731
8	CEBPB	chr1:158977574-158977911	A549	lung:	n/a	chr1:158977685-158977696 chr1:158977720-158977731
9	CEBPB	chr1:158977593-158977889	K562	blood:	n/a	chr1:158977685-158977696 chr1:158977720-158977731
10	STAT3	chr1:158977614-158977780	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr1:158977699-158977844	GM12878	blood:	n/a	n/a
12	FOS	chr1:158977610-158977886	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr1:158977552-158977885	Hela-S3	cervix:	n/a	chr1:158977685-158977696 chr1:158977720-158977731

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158900682..158902203-chr1:158976628..158979178,2	K562	blood:

Variant related genes	Relation type
IFI16	TF binding region
ENSG00000163564	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10437336	1.00[EUR][1000 genomes]
rs10437337	1.00[EUR][1000 genomes]
rs10489847	1.00[EUR][1000 genomes]
rs1101999	1.00[EUR][1000 genomes]
rs1102000	1.00[EUR][1000 genomes]
rs1102017	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1104171	1.00[EUR][1000 genomes]
rs11265145	1.00[EUR][1000 genomes]
rs12057331	1.00[EUR][1000 genomes]
rs12059838	1.00[EUR][1000 genomes]
rs12060241	1.00[EUR][1000 genomes]
rs12061139	1.00[EUR][1000 genomes]
rs12062789	1.00[EUR][1000 genomes]
rs12063682	1.00[EUR][1000 genomes]
rs12063973	1.00[EUR][1000 genomes]
rs12064129	1.00[EUR][1000 genomes]
rs12068030	1.00[EUR][1000 genomes]
rs12087366	1.00[EUR][1000 genomes]
rs1341409	1.00[EUR][1000 genomes]
rs1612810	1.00[EUR][1000 genomes]
rs1612844	1.00[EUR][1000 genomes]
rs1616270	1.00[EUR][1000 genomes]
rs1626284	1.00[EUR][1000 genomes]
rs1629682	1.00[EUR][1000 genomes]
rs1629702	1.00[EUR][1000 genomes]
rs1631448	1.00[EUR][1000 genomes]
rs1633293	1.00[EUR][1000 genomes]
rs1633296	1.00[EUR][1000 genomes]
rs1633298	1.00[EUR][1000 genomes]
rs16841729	1.00[EUR][1000 genomes]
rs16841784	1.00[EUR][1000 genomes]
rs16841789	1.00[EUR][1000 genomes]
rs1772398	1.00[EUR][1000 genomes]
rs1772439	1.00[EUR][1000 genomes]
rs1772441	1.00[EUR][1000 genomes]
rs1772442	1.00[EUR][1000 genomes]
rs1772444	1.00[EUR][1000 genomes]
rs2746042	1.00[EUR][1000 genomes]
rs3026944	1.00[EUR][1000 genomes]
rs3026947	1.00[EUR][1000 genomes]
rs3026970	1.00[EUR][1000 genomes]
rs3026984	1.00[EUR][1000 genomes]
rs3027040	1.00[EUR][1000 genomes]
rs3027041	1.00[EUR][1000 genomes]
rs3027046	1.00[EUR][1000 genomes]
rs3027047	1.00[EUR][1000 genomes]
rs3027050	1.00[EUR][1000 genomes]
rs3027057	1.00[EUR][1000 genomes]
rs3027066	1.00[EUR][1000 genomes]
rs34870435	1.00[EUR][1000 genomes]
rs35122728	1.00[EUR][1000 genomes]
rs36103299	1.00[EUR][1000 genomes]
rs36160848	1.00[EUR][1000 genomes]
rs73023773	1.00[EUR][1000 genomes]
rs73023775	1.00[EUR][1000 genomes]
rs74122265	1.00[EUR][1000 genomes]
rs856060	1.00[EUR][1000 genomes]
rs856061	1.00[EUR][1000 genomes]
rs856062	1.00[EUR][1000 genomes]
rs856063	1.00[EUR][1000 genomes]
rs856065	1.00[EUR][1000 genomes]
rs856069	1.00[EUR][1000 genomes]
rs856075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs856076	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs856078	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs856082	1.00[EUR][1000 genomes]
rs856087	1.00[EUR][1000 genomes]
rs856128	1.00[EUR][1000 genomes]
rs856130	1.00[EUR][1000 genomes]
rs856137	1.00[EUR][1000 genomes]
rs856138	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs856139	1.00[EUR][1000 genomes]
rs856144	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs856145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs856147	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs856148	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs864439	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv3176	chr1:158955373-158986568	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158969000-158978200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:158970000-158978600	Weak transcription	Esophagus	oesophagus
3	chr1:158970200-158978600	Weak transcription	Psoas Muscle	Psoas
4	chr1:158970200-158978800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:158970200-158979200	Weak transcription	Aorta	Aorta
6	chr1:158970800-158980800	Weak transcription	Pancreas	Pancrea
7	chr1:158971000-158978400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:158971200-158978400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:158971200-158978400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:158971200-158978400	Weak transcription	HSMM	muscle
11	chr1:158971200-158978600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:158971200-158978600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:158971200-158978800	Weak transcription	HSMMtube	muscle
14	chr1:158971400-158978400	Weak transcription	Hela-S3	cervix
15	chr1:158971800-158978600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:158971800-158979800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:158972000-158979600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:158974800-158977800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:158974800-158978400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:158975000-158978800	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:158975000-158979800	Weak transcription	Lung	lung
22	chr1:158975400-158978200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:158975400-158978400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr1:158975400-158978600	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:158975400-158979200	Weak transcription	Liver	Liver
26	chr1:158975400-158979200	Weak transcription	Right Atrium	heart
27	chr1:158975600-158978200	Weak transcription	NHLF	lung
28	chr1:158975600-158978400	Weak transcription	Brain Anterior Caudate	brain
29	chr1:158975800-158978200	Weak transcription	Brain Substantia Nigra	brain
30	chr1:158975800-158978200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:158975800-158978400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:158975800-158978400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:158975800-158978400	Weak transcription	NHEK	skin
34	chr1:158975800-158978400	Weak transcription	Osteobl	bone
35	chr1:158975800-158978600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:158975800-158978600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:158975800-158978600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:158975800-158979200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:158976000-158978200	Enhancers	Primary B cells from cord blood	blood
40	chr1:158976000-158978200	Weak transcription	Fetal Thymus	thymus
41	chr1:158976000-158978200	Weak transcription	NHDF-Ad	bronchial
42	chr1:158976000-158978400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:158976000-158978600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:158976000-158978600	Weak transcription	Adipose Nuclei	Adipose
45	chr1:158976000-158979000	Weak transcription	Fetal Stomach	stomach
46	chr1:158976000-158979200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:158976000-158979200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:158976000-158979400	Weak transcription	Left Ventricle	heart
49	chr1:158976000-158979400	Weak transcription	Ovary	ovary
50	chr1:158976000-158979600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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