Variant report

Variant	rs547479
Chromosome Location	chr18:13114441-13114442
allele	A/G
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	POLR2A	chr18:13108117-13116498	K562	blood:	n/a	n/a
2	E2F4	chr18:13114378-13114657	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:13113026..13115361-chr18:13116493..13119235,2	K562	blood:
2	chr18:13105332..13108068-chr18:13112707..13115256,2	K562	blood:
3	chr18:13105332..13108593-chr18:13112315..13115256,3	K562	blood:

Variant related genes	Relation type
CEP192	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10164063	1.00[EUR][1000 genomes]
rs11080631	1.00[EUR][1000 genomes]
rs1613375	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs1786993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1893324	1.00[EUR][1000 genomes]
rs1893325	1.00[EUR][1000 genomes]
rs1945136	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2027693	1.00[EUR][1000 genomes]
rs2027694	1.00[EUR][1000 genomes]
rs2155864	1.00[EUR][1000 genomes]
rs28579212	1.00[EUR][1000 genomes]
rs4239310	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs478502	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4796970	1.00[EUR][1000 genomes]
rs482642	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs483647	1.00[EUR][1000 genomes]
rs486976	1.00[EUR][1000 genomes]
rs506877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs533010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs543201	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs569831	1.00[EUR][1000 genomes]
rs571784	0.85[AFR][1000 genomes]
rs575250	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57580816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58839955	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7238800	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs73419545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8083404	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs9945456	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9953795	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9958518	1.00[EUR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9965936	1.00[EUR][1000 genomes]
rs9966740	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:13089400-13122200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:13097200-13118800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:13098800-13121200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:13099200-13124800	Strong transcription	Fetal Thymus	thymus
7	chr18:13099200-13127800	Strong transcription	Dnd41	blood
8	chr18:13099200-13128200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr18:13099400-13129400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr18:13105400-13115400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:13106200-13130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:13106800-13115200	Weak transcription	Gastric	stomach
13	chr18:13106800-13115400	Weak transcription	Aorta	Aorta
14	chr18:13106800-13115600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:13107000-13117600	Weak transcription	NHLF	lung
17	chr18:13107000-13130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:13107200-13115200	Weak transcription	Fetal Brain Male	brain
19	chr18:13107200-13115800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:13107200-13117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr18:13107200-13117600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr18:13107200-13117600	Weak transcription	NHDF-Ad	bronchial
23	chr18:13107400-13115200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:13107800-13121000	Weak transcription	Brain Substantia Nigra	brain
25	chr18:13108000-13115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr18:13108400-13115400	Weak transcription	Colonic Mucosa	Colon
27	chr18:13108400-13117400	Weak transcription	Hela-S3	cervix
28	chr18:13108400-13117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr18:13108800-13115800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr18:13108800-13116200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr18:13109200-13115000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:13109200-13115200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr18:13109200-13115200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr18:13109200-13115200	Weak transcription	Brain Angular Gyrus	brain
35	chr18:13109200-13115200	Weak transcription	Esophagus	oesophagus
36	chr18:13109200-13115200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:13109200-13115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr18:13109200-13117400	Weak transcription	Brain Anterior Caudate	brain
39	chr18:13109200-13117600	Weak transcription	Small Intestine	intestine
40	chr18:13109200-13117600	Weak transcription	A549	lung
41	chr18:13109200-13117600	Weak transcription	HSMMtube	muscle
42	chr18:13109400-13115200	Weak transcription	Brain Germinal Matrix	brain
43	chr18:13109400-13115200	Weak transcription	Lung	lung
44	chr18:13109400-13115200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr18:13109400-13115400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:13109400-13115400	Weak transcription	Ovary	ovary
47	chr18:13109400-13120800	Weak transcription	Fetal Kidney	kidney
48	chr18:13109600-13115200	Weak transcription	Colon Smooth Muscle	Colon
49	chr18:13109600-13115400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr18:13109600-13115400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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