Variant report

Variant	rs4078337
Chromosome Location	chr18:9138245-9138246
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr18:9135500-9138250	IMR90	lung:	n/a	n/a
2	MAZ	chr18:9135473-9138318	IMR90	lung:	n/a	chr18:9136179-9136189
3	POLR2A	chr18:9137298-9138352	GM12878	blood:	n/a	n/a
4	POLR2A	chr18:9137501-9138281	GM12892	blood:	n/a	n/a
5	MTA3	chr18:9137470-9138275	GM12878	blood:	n/a	n/a
6	POLR2A	chr18:9134266-9138689	GM12891	blood:	n/a	n/a
7	CHD1	chr18:9135676-9140919	GM12878	blood:	n/a	n/a
8	MXI1	chr18:9135143-9138796	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr18:9134925-9138506	GM12892	blood:	n/a	n/a
10	CHD1	chr18:9135424-9139416	IMR90	lung:	n/a	n/a
11	POLR2A	chr18:9135118-9138291	GM12892	blood:	n/a	n/a
12	POLR2A	chr18:9137287-9138600	GM12891	blood:	n/a	n/a
13	POLR2A	chr18:9135529-9138844	GM12878	blood:	n/a	n/a
14	GTF3C2	chr18:9136094-9138739	K562	blood:	n/a	n/a
15	GTF3C2	chr18:9137854-9138735	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr18:9135657-9139270	IMR90	lung:	n/a	n/a
17	POLR2A	chr18:9135176-9138510	GM18505	blood:	n/a	n/a
18	POLR2A	chr18:9137297-9138648	GM12891	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9137564..9140546-chr18:9188464..9190895,2	MCF-7	breast:
2	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
3	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
4	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
5	chr18:9116916..9118754-chr18:9136071..9139010,3	K562	blood:
6	chr18:8704166..8706937-chr18:9136436..9139051,3	MCF-7	breast:
7	chr18:9137627..9140441-chr18:9161165..9162837,2	K562	blood:
8	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
9	chr18:9113884..9116180-chr18:9136154..9138641,4	K562	blood:
10	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
11	chr18:9137078..9139236-chr18:9332503..9334760,2	K562	blood:
12	chr18:9136777..9139021-chr18:9215479..9217327,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266053	TF binding region
ENSG00000168502	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000264964	Chromatin interaction
ENSG00000263847	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000178127	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11661711	1.00[CEU][hapmap];0.91[JPT][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12607307	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12958093	1.00[CEU][hapmap]
rs1472944	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17413793	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1893198	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2155707	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4130178	0.83[CHB][hapmap]
rs4131992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4148966	0.86[ASN][1000 genomes]
rs4148967	1.00[CEU][hapmap];0.91[JPT][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4603624	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4797356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4797361	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs4798772	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4798776	0.95[CEU][hapmap];0.87[CHB][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4798778	0.96[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4798786	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs4798791	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs56046470	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6417048	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6506644	0.82[CHB][hapmap]
rs6506649	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs7228251	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7229883	0.82[CHB][hapmap]
rs7235514	0.82[CHB][hapmap]
rs7504137	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7504603	0.95[CEU][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7505120	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7506291	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8083078	0.83[CHB][hapmap]
rs8087306	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs8089693	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs8092613	0.83[CHB][hapmap]
rs874250	0.86[CHB][hapmap]
rs894755	0.91[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs906807	0.83[CHB][hapmap]
rs9652952	0.82[CHB][hapmap]
rs977581	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9945360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9946468	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9946695	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs9947027	1.00[CEU][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes]
rs9948560	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9952006	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9960129	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs9966631	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3396257	chr18:9135852-9138500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9135000-9139200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr18:9135200-9138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr18:9135200-9138400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr18:9135400-9139000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:9135400-9140200	Active TSS	Psoas Muscle	Psoas
6	chr18:9135600-9138400	Active TSS	Esophagus	oesophagus
7	chr18:9135600-9138800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr18:9135600-9139000	Active TSS	A549	lung
9	chr18:9135600-9140000	Active TSS	Right Ventricle	heart
10	chr18:9135600-9140200	Active TSS	NHDF-Ad	bronchial
11	chr18:9135800-9138400	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr18:9135800-9138400	Active TSS	Fetal Intestine Large	intestine
13	chr18:9135800-9138400	Active TSS	Left Ventricle	heart
14	chr18:9135800-9138600	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr18:9135800-9138600	Active TSS	Fetal Intestine Small	intestine
16	chr18:9135800-9138600	Active TSS	Lung	lung
17	chr18:9135800-9138600	Active TSS	Pancreas	Pancrea
18	chr18:9135800-9138600	Active TSS	Small Intestine	intestine
19	chr18:9135800-9138800	Active TSS	Ovary	ovary
20	chr18:9135800-9138800	Active TSS	Hela-S3	cervix
21	chr18:9135800-9139000	Active TSS	Colonic Mucosa	Colon
22	chr18:9135800-9140000	Active TSS	Aorta	Aorta
23	chr18:9135800-9140800	Active TSS	GM12878-XiMat	blood
24	chr18:9136000-9138400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr18:9136000-9138400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:9136000-9138400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr18:9136000-9138400	Active TSS	Brain Anterior Caudate	brain
28	chr18:9136000-9138400	Active TSS	Brain Cingulate Gyrus	brain
29	chr18:9136000-9138400	Active TSS	Brain Substantia Nigra	brain
30	chr18:9136000-9138400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr18:9136000-9138600	Active TSS	Gastric	stomach
32	chr18:9136000-9138600	Active TSS	Rectal Smooth Muscle	rectum
33	chr18:9136000-9138800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr18:9136000-9138800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr18:9136000-9139000	Active TSS	Brain Angular Gyrus	brain
36	chr18:9136000-9139200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr18:9136000-9139200	Active TSS	HSMMtube	muscle
38	chr18:9136000-9139600	Active TSS	K562	blood
39	chr18:9136000-9140000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:9136000-9140800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:9136000-9140800	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr18:9136000-9141000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr18:9136000-9141200	Active TSS	Stomach Smooth Muscle	stomach
44	chr18:9136200-9138400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:9136200-9138400	Active TSS	Adipose Nuclei	Adipose
46	chr18:9136200-9138400	Active TSS	NH-A	brain
47	chr18:9136200-9138600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:9136200-9138600	Active TSS	Osteobl	bone
49	chr18:9136200-9138800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr18:9136200-9138800	Active TSS	Colon Smooth Muscle	Colon

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