Variant report

Variant	rs1156044
Chromosome Location	chr18:9102140-9102141
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	ZNF143	chr18:9102113-9102785	K562	blood:	n/a	chr18:9102569-9102579
2	RUNX3	chr18:9101770-9102831	GM12878	blood:	n/a	n/a
3	EGR1	chr18:9102108-9102819	HCT-116	colon:	n/a	chr18:9102579-9102592 chr18:9102599-9102612 chr18:9102665-9102674 chr18:9102531-9102545 chr18:9102548-9102562
4	MYC	chr18:9101800-9103338	K562	blood:	n/a	n/a
5	TCF12	chr18:9101611-9103380	A549	lung:	n/a	chr18:9102566-9102576
6	CREB1	chr18:9101600-9102186	K562	blood:	n/a	n/a
7	POLR2A	chr18:9101771-9102933	K562	blood:	n/a	n/a
8	POLR2A	chr18:9101558-9103877	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr18:9102055-9103155	U87	brain:	n/a	n/a
10	RELA	chr18:9101730-9102859	GM18505	blood:	n/a	n/a
11	SPI1	chr18:9101731-9102154	HL-60	blood:	n/a	chr18:9101903-9101912 chr18:9101904-9101911
12	IRF1	chr18:9101751-9102861	K562	blood:	n/a	chr18:9102600-9102614 chr18:9102524-9102538
13	PML	chr18:9101692-9103415	GM12878	blood:	n/a	n/a
14	POLR2A	chr18:9101762-9103826	Raji	blood:	n/a	n/a
15	SPI1	chr18:9101633-9102826	HL-60	blood:	n/a	chr18:9101903-9101912 chr18:9101904-9101911
16	POLR2A	chr18:9101755-9104154	PBDE	blood:	n/a	n/a
17	POLR2A	chr18:9101768-9103475	GM12892	blood:	n/a	n/a
18	RUNX3	chr18:9102113-9102917	GM12878	blood:	n/a	n/a
19	POLR2A	chr18:9101736-9103075	HUVEC	blood vessel:	n/a	n/a
20	MTA3	chr18:9101732-9104261	GM12878	blood:	n/a	n/a
21	POLR2A	chr18:9101754-9103232	GM12892	blood:	n/a	n/a
22	MXI1	chr18:9101930-9102796	Hela-S3	cervix:	n/a	n/a
23	HEY1	chr18:9101702-9103018	HepG2	liver:	n/a	chr18:9102817-9102832
24	BHLHE40	chr18:9102033-9102892	HepG2	liver:	n/a	chr18:9102564-9102580 chr18:9102600-9102616 chr18:9102472-9102488
25	POLR2A	chr18:9101541-9102919	HCT-116	colon:	n/a	n/a
26	POLR2A	chr18:9101782-9103221	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr18:9102133-9103688	ProgFib	skin:	n/a	n/a
28	ARID3A	chr18:9101772-9102874	HepG2	liver:	n/a	n/a
29	TBP	chr18:9101730-9103622	K562	blood:	n/a	chr18:9102351-9102362
30	TAF1	chr18:9102138-9103110	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr18:9101701-9102910	HepG2	liver:	n/a	n/a
32	UBTF	chr18:9102134-9103232	K562	blood:	n/a	n/a
33	MAZ	chr18:9101695-9103982	IMR90	lung:	n/a	n/a
34	GABPA	chr18:9101662-9102171	A549	lung:	n/a	n/a
35	STAT3	chr18:9101738-9102710	MCF10A-Er-Src	breast:	n/a	chr18:9101906-9101913 chr18:9102528-9102540
36	TBP	chr18:9101802-9102853	GM12878	blood:	n/a	chr18:9102351-9102362
37	HCFC1	chr18:9101837-9103344	K562	blood:	n/a	n/a
38	HEY1	chr18:9101770-9103352	K562	blood:	n/a	chr18:9102817-9102832
39	CREB1	chr18:9101475-9102306	K562	blood:	n/a	n/a
40	IRF1	chr18:9101820-9102893	K562	blood:	n/a	chr18:9102600-9102614 chr18:9102524-9102538
41	POLR2A	chr18:9101713-9103331	K562	blood:	n/a	n/a
42	POLR2A	chr18:9101774-9104556	GM12878	blood:	n/a	n/a
43	TBL1XR1	chr18:9101829-9102917	GM12878	blood:	n/a	n/a
44	SIN3A	chr18:9102074-9102921	GM12878	blood:	n/a	n/a
45	POLR2A	chr18:9102115-9103328	PFSK-1	brain:	n/a	n/a
46	FOXA1	chr18:9101679-9102205	HepG2	liver:	n/a	n/a
47	POLR2A	chr18:9102017-9103029	Hela-S3	cervix:	n/a	n/a
48	ELF1	chr18:9101598-9102792	HCT-116	colon:	n/a	n/a
49	IRF1	chr18:9101844-9102899	K562	blood:	n/a	chr18:9102600-9102614 chr18:9102524-9102538
50	POLR2A	chr18:9101840-9103272	GM18526	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:126849051..126849588-chr18:9102001..9102610,2	Hela-S3	cervix:
2	chr1:226249272..226249832-chr18:9101582..9102167,2	Hela-S3	cervix:
3	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
4	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
5	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
6	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
7	chr18:9101667..9102598-chr2:99224797..99225528,2	Hela-S3	cervix:
8	chr18:9100740..9102292-chr18:9126318..9129921,3	MCF-7	breast:
9	chr18:9018123..9019834-chr18:9100436..9102568,2	K562	blood:

Variant related genes	Relation type
ENSG00000265257	TF binding region
NDUFV2	TF binding region
ENSG00000272562	Chromatin interaction
ENSG00000266053	Chromatin interaction
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000175029	Chromatin interaction
ENSG00000178127	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000101745	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10451358	0.91[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap]
rs11660603	0.91[CEU][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs1443596	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs1785560	1.00[CEU][hapmap]
rs2028656	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs2377960	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4130178	0.91[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs4148964	0.85[ASN][1000 genomes]
rs4148965	0.83[CHD][hapmap];0.89[JPT][hapmap]
rs4798770	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4798771	0.91[CEU][hapmap];0.89[JPT][hapmap]
rs4798785	0.91[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap]
rs4798789	0.91[CEU][hapmap];0.80[JPT][hapmap]
rs4798790	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs6506640	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6506644	0.91[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs6506648	0.91[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap]
rs7229883	0.91[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs7231452	0.91[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap]
rs7235514	0.91[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.89[JPT][hapmap]
rs8083078	0.91[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs8084822	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8092135	0.91[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap]
rs8092613	0.91[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs8092878	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs874250	0.91[CEU][hapmap];0.85[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap]
rs906807	0.90[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs9652952	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs998171	0.91[CEU][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9101400-9102200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr18:9101400-9102200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:9101400-9102400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr18:9101400-9102400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:9101400-9102400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr18:9101400-9103600	Active TSS	Brain Angular Gyrus	brain
7	chr18:9101400-9103600	Active TSS	Hela-S3	cervix
8	chr18:9101400-9103800	Active TSS	Liver	Liver
9	chr18:9101400-9104000	Active TSS	GM12878-XiMat	blood
10	chr18:9101600-9102200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr18:9101600-9102200	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr18:9101600-9102200	Flanking Active TSS	Fetal Lung	lung
13	chr18:9101600-9102200	Flanking Active TSS	NH-A	brain
14	chr18:9101600-9102200	Flanking Active TSS	Osteobl	bone
15	chr18:9101600-9102400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr18:9101600-9102400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr18:9101600-9102400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr18:9101600-9102400	Flanking Active TSS	HUVEC	blood vessel
19	chr18:9101600-9103400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr18:9101600-9103600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr18:9101600-9103600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr18:9101600-9103600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr18:9101600-9103600	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr18:9101600-9103800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:9101600-9104000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:9101600-9104000	Active TSS	Brain Anterior Caudate	brain
27	chr18:9101600-9104200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:9101600-9104200	Active TSS	NHDF-Ad	bronchial
29	chr18:9101600-9104600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:9101600-9104600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:9101600-9105000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr18:9101600-9105400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr18:9101600-9106000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:9101600-9106000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:9101600-9106400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:9101800-9102200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr18:9101800-9102200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr18:9101800-9102200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr18:9101800-9102200	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr18:9101800-9102200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr18:9101800-9102200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:9101800-9102200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr18:9101800-9102200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr18:9101800-9102200	Flanking Active TSS	Fetal Kidney	kidney
45	chr18:9101800-9102200	Flanking Active TSS	Fetal Stomach	stomach
46	chr18:9101800-9102200	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr18:9101800-9102200	Weak transcription	Small Intestine	intestine
48	chr18:9101800-9102400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr18:9101800-9102400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr18:9101800-9102400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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