Variant report

Variant	rs8085233
Chromosome Location	chr18:43659595-43659596
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	chr18:43659235-43660739	HepG2	liver:	n/a	n/a
2	POLR2A	chr18:43659562-43659929	GM12891	blood:	n/a	n/a
3	POLR2A	chr18:43659572-43659817	GM12892	blood:	n/a	n/a
4	POLR2A	chr18:43658671-43660969	HepG2	liver:	n/a	n/a
5	POLR2A	chr18:43659105-43660729	GM12878	blood:	n/a	n/a
6	POLR2A	chr18:43659420-43660507	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr18:43659251-43660218	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr18:43659176-43659927	HL-60	blood:	n/a	n/a
9	POLR2A	chr18:43659178-43659982	GM12892	blood:	n/a	n/a
10	POLR2A	chr18:43656715-43660910	K562	blood:	n/a	n/a
11	POLR2A	chr18:43659528-43659774	HepG2	liver:	n/a	n/a
12	POLR2A	chr18:43659567-43659982	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr18:43658776-43660962	GM12878	blood:	n/a	n/a
14	POLR2A	chr18:43659316-43659827	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43659382..43661655-chr18:43663373..43665156,2	K562	blood:

Variant related genes	Relation type
ENSG00000252034	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11876373	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12604963	0.82[JPT][hapmap]
rs12606184	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12607480	0.95[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs12953780	0.80[JPT][hapmap]
rs12954742	0.83[CHB][hapmap]
rs12959543	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12963169	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1658908	0.84[CHB][hapmap]
rs1791407	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1791413	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1791414	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1866321	0.83[CHB][hapmap]
rs1866322	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2467669	0.84[ASN][1000 genomes]
rs2515639	0.84[ASN][1000 genomes]
rs2578184	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2578187	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2578188	0.82[ASN][1000 genomes]
rs2578189	0.96[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs2578190	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2578193	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28372325	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28497462	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2850644	0.84[ASN][1000 genomes]
rs2852362	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2852363	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28524126	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2853801	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2853802	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28689081	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28715068	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28768435	0.81[ASN][1000 genomes]
rs28805990	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28809822	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35122885	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35338711	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35360831	0.85[ASN][1000 genomes]
rs35657986	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35935345	0.82[ASN][1000 genomes]
rs3744992	0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs3745002	0.82[ASN][1000 genomes]
rs3753069	0.81[CHB][hapmap]
rs4243278	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs4274509	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs4550555	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs474878	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4890313	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4890314	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4890616	0.84[EUR][1000 genomes]
rs4890617	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4890618	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4890619	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4890620	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4890624	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4890625	0.81[EUR][1000 genomes]
rs58397883	0.90[ASN][1000 genomes]
rs59082804	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60986007	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507675	0.82[JPT][hapmap]
rs6507679	0.81[JPT][hapmap]
rs71364518	0.82[ASN][1000 genomes]
rs7226736	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7226742	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7227301	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7230180	0.81[ASN][1000 genomes]
rs7233665	0.81[EUR][1000 genomes]
rs7239525	0.82[ASN][1000 genomes]
rs7506126	0.81[JPT][hapmap]
rs8083916	0.95[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs8085773	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8088422	0.82[EUR][1000 genomes]
rs8096256	1.00[CEU][hapmap];0.83[CHB][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8096643	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9946543	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9946831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9950234	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs9950343	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9952157	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9954133	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9954534	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9955008	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs9956803	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9957804	0.83[EUR][1000 genomes]
rs9958257	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9959526	0.81[JPT][hapmap]
rs9961163	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9964180	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9965365	0.88[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9965812	0.83[CHB][hapmap]
rs9966603	0.88[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs9967229	0.81[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	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43652200-43659600	Weak transcription	Small Intestine	intestine
2	chr18:43652600-43660000	Weak transcription	Brain Angular Gyrus	brain
3	chr18:43652600-43662200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:43652600-43662600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:43652600-43663000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:43652600-43663200	Weak transcription	Esophagus	oesophagus
7	chr18:43652600-43665000	Weak transcription	Aorta	Aorta
8	chr18:43652800-43662600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:43652800-43664000	Weak transcription	K562	blood
10	chr18:43653000-43662600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:43653000-43663000	Weak transcription	Fetal Brain Male	brain
12	chr18:43653200-43663200	Weak transcription	Psoas Muscle	Psoas
13	chr18:43653400-43663800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr18:43653600-43659600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:43653600-43660400	Weak transcription	Lung	lung
16	chr18:43653600-43660400	Weak transcription	HepG2	liver
17	chr18:43653600-43661000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr18:43653600-43661200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr18:43653600-43662400	Weak transcription	Colonic Mucosa	Colon
20	chr18:43653600-43662600	Weak transcription	Ovary	ovary
21	chr18:43653600-43662600	Weak transcription	Right Ventricle	heart
22	chr18:43653600-43662800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:43653600-43662800	Weak transcription	Pancreas	Pancrea
24	chr18:43653600-43662800	Weak transcription	Spleen	Spleen
25	chr18:43653600-43663200	Weak transcription	Gastric	stomach
26	chr18:43653600-43665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:43653600-43666200	Weak transcription	Stomach Mucosa	stomach
28	chr18:43653600-43669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr18:43653800-43659600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:43653800-43659800	Weak transcription	Primary T cells from cord blood	blood
31	chr18:43653800-43659800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr18:43653800-43660000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:43653800-43660200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr18:43653800-43661400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr18:43653800-43662800	Weak transcription	Fetal Lung	lung
36	chr18:43653800-43663200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr18:43653800-43663400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr18:43654200-43659800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:43654200-43659800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr18:43654200-43659800	Weak transcription	NHLF	lung
41	chr18:43654200-43660200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr18:43654200-43661200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr18:43654200-43665800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr18:43655400-43666600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:43656200-43667800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr18:43657000-43668400	Strong transcription	GM12878-XiMat	blood
47	chr18:43657000-43672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr18:43657200-43664600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr18:43657200-43669600	Strong transcription	Primary B cells from cord blood	blood
50	chr18:43657200-43673800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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