Variant report

Variant	rs2578189
Chromosome Location	chr18:43680700-43680701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:43676160..43680812-chr18:43682051..43685941,8	K562	blood:
2	chr18:43677240..43681670-chr18:43684014..43685946,4	K562	blood:
3	chr18:43679920..43682032-chr18:43684362..43686002,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152240	Chromatin interaction
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11876373	0.84[ASN][1000 genomes]
rs12606184	0.87[ASN][1000 genomes]
rs12607480	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12709735	0.83[ASN][1000 genomes]
rs12954742	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs12959543	0.87[ASN][1000 genomes]
rs12963169	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1658908	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs1791407	0.87[CHB][hapmap]
rs1791413	0.87[CHB][hapmap]
rs1791414	0.87[CHB][hapmap]
rs1866321	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs1866322	0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1964984	0.81[ASN][1000 genomes]
rs2467669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2578184	0.94[ASN][1000 genomes]
rs2578187	0.86[CHB][hapmap];0.94[ASN][1000 genomes]
rs2578188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2578190	0.97[ASN][1000 genomes]
rs2578192	0.85[ASN][1000 genomes]
rs2578193	0.97[ASN][1000 genomes]
rs28372325	0.81[ASN][1000 genomes]
rs28497462	0.88[ASN][1000 genomes]
rs2850644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850646	0.85[ASN][1000 genomes]
rs2852362	0.95[ASN][1000 genomes]
rs2852363	0.96[ASN][1000 genomes]
rs28524126	0.85[ASN][1000 genomes]
rs2853801	0.97[ASN][1000 genomes]
rs2853802	0.97[ASN][1000 genomes]
rs28715068	0.92[ASN][1000 genomes]
rs28768435	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28805990	0.97[ASN][1000 genomes]
rs28809822	0.91[ASN][1000 genomes]
rs35122885	0.96[ASN][1000 genomes]
rs35338711	0.88[ASN][1000 genomes]
rs35360831	0.93[ASN][1000 genomes]
rs35657986	0.84[ASN][1000 genomes]
rs3744992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753069	0.85[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4243278	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4257298	0.80[ASN][1000 genomes]
rs4260155	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4274509	0.87[CHB][hapmap]
rs474878	0.97[ASN][1000 genomes]
rs4890313	0.82[CHB][hapmap]
rs4890617	0.82[CHB][hapmap]
rs4890619	0.86[CHB][hapmap]
rs4890620	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4890624	0.97[ASN][1000 genomes]
rs4890625	0.85[ASN][1000 genomes]
rs59082804	0.95[ASN][1000 genomes]
rs60986007	0.84[ASN][1000 genomes]
rs71364518	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7226736	0.88[ASN][1000 genomes]
rs7226742	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7229971	0.84[ASN][1000 genomes]
rs7230180	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7233665	0.90[ASN][1000 genomes]
rs8083916	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8085233	0.96[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs8085773	0.97[ASN][1000 genomes]
rs8088422	0.84[ASN][1000 genomes]
rs8096256	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs8096643	0.86[ASN][1000 genomes]
rs9946831	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs9950234	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs9950343	0.82[CHB][hapmap]
rs9952157	0.81[ASN][1000 genomes]
rs9954133	0.88[ASN][1000 genomes]
rs9954534	0.85[ASN][1000 genomes]
rs9955008	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs9956803	0.82[CHB][hapmap]
rs9958257	0.83[ASN][1000 genomes]
rs9965365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9965812	0.87[CHB][hapmap];0.87[JPT][hapmap]
rs9966603	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv962965	chr18:43678008-43706302	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43678600-43684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr18:43678800-43683600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr18:43678800-43683800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr18:43678800-43683800	Weak transcription	Colonic Mucosa	Colon
5	chr18:43678800-43683800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr18:43678800-43684000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:43678800-43684000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr18:43678800-43684000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr18:43678800-43684000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:43678800-43684000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr18:43678800-43684000	Weak transcription	Thymus	Thymus
12	chr18:43678800-43684400	Weak transcription	Spleen	Spleen
13	chr18:43679000-43683800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr18:43679000-43683800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr18:43679000-43683800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr18:43679000-43683800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:43679000-43683800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr18:43679000-43683800	Weak transcription	Adipose Nuclei	Adipose
19	chr18:43679000-43683800	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:43679000-43683800	Weak transcription	Fetal Muscle Leg	muscle
21	chr18:43679000-43683800	Weak transcription	Fetal Thymus	thymus
22	chr18:43679000-43683800	Weak transcription	Stomach Mucosa	stomach
23	chr18:43679000-43683800	Weak transcription	HUVEC	blood vessel
24	chr18:43679000-43683800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr18:43679000-43684000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr18:43679000-43684000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr18:43679000-43684000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr18:43679000-43684000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr18:43679000-43684000	Weak transcription	NHLF	lung
30	chr18:43679000-43684000	Weak transcription	Osteobl	bone
31	chr18:43679000-43684200	Weak transcription	Placenta	Placenta
32	chr18:43679200-43683800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:43679200-43683800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr18:43679200-43683800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr18:43679200-43683800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr18:43679200-43683800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr18:43679200-43683800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr18:43679200-43683800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr18:43679200-43683800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr18:43679200-43683800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr18:43679200-43683800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr18:43679200-43683800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr18:43679200-43683800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:43679200-43683800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:43679200-43683800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:43679200-43683800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr18:43679200-43683800	Weak transcription	Liver	Liver
48	chr18:43679200-43683800	Weak transcription	Brain Anterior Caudate	brain
49	chr18:43679200-43683800	Weak transcription	Fetal Heart	heart
50	chr18:43679200-43683800	Weak transcription	Fetal Kidney	kidney

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