Variant report

Variant	rs7432838
Chromosome Location	chr3:88190809-88190810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:88189660..88196560-chr3:88196589..88201818,14	K562	blood:
2	chr3:88181347..88191666-chr3:88192147..88201015,17	MCF-7	breast:
3	chr22:19840780..19843532-chr3:88188896..88191822,2	MCF-7	breast:
4	chr3:88184541..88187241-chr3:88188929..88190940,2	K562	blood:
5	chr3:88188493..88190922-chr3:88194311..88197595,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163320	Chromatin interaction
ENSG00000179021	Chromatin interaction
ENSG00000215012	Chromatin interaction
ENSG00000185838	Chromatin interaction

Extended variants
information (count: 185 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs1006895	1.00[CEU][hapmap]
rs1006896	1.00[JPT][hapmap]
rs1051413	1.00[CEU][hapmap]
rs1051436	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs1063597	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs1063603	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs11128021	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12493327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631689	0.90[EUR][1000 genomes]
rs12714702	0.85[EUR][1000 genomes]
rs13060704	0.90[EUR][1000 genomes]
rs13063511	1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs13067183	0.88[EUR][1000 genomes]
rs13067419	0.93[EUR][1000 genomes]
rs13076170	0.94[CEU][hapmap]
rs13098157	0.87[CEU][hapmap]
rs13317261	0.90[EUR][1000 genomes]
rs2049817	0.94[CEU][hapmap];0.85[GIH][hapmap];0.96[TSI][hapmap]
rs2116149	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs2735556	1.00[JPT][hapmap]
rs2735559	1.00[JPT][hapmap]
rs28672845	0.82[EUR][1000 genomes]
rs28694532	0.85[EUR][1000 genomes]
rs3732776	1.00[CEU][hapmap]
rs3890707	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs4241551	0.93[EUR][1000 genomes]
rs4257571	0.95[EUR][1000 genomes]
rs4276211	0.91[EUR][1000 genomes]
rs4276212	0.91[EUR][1000 genomes]
rs4337654	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs4368523	1.00[CEU][hapmap]
rs4374552	0.95[EUR][1000 genomes]
rs4384978	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4402954	0.85[EUR][1000 genomes]
rs4407422	0.88[EUR][1000 genomes]
rs4414876	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs4429658	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4432672	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs4434168	0.93[EUR][1000 genomes]
rs4438681	1.00[CEU][hapmap]
rs4485742	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4488864	0.95[EUR][1000 genomes]
rs4501136	0.95[EUR][1000 genomes]
rs4507280	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4518156	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs4555548	0.95[EUR][1000 genomes]
rs4580585	0.95[EUR][1000 genomes]
rs4596173	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs4611846	1.00[CEU][hapmap]
rs4616670	0.92[EUR][1000 genomes]
rs4858931	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4858935	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4858936	0.97[EUR][1000 genomes]
rs4858937	0.90[EUR][1000 genomes]
rs4858938	0.88[EUR][1000 genomes]
rs4858981	1.00[CEU][hapmap]
rs4858983	0.85[CEU][hapmap]
rs4858985	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs4858994	1.00[CEU][hapmap]
rs4858995	0.93[EUR][1000 genomes]
rs4858998	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4858999	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4859001	0.97[EUR][1000 genomes]
rs4859002	0.90[EUR][1000 genomes]
rs4859004	0.88[EUR][1000 genomes]
rs4859005	0.88[EUR][1000 genomes]
rs55744603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923163	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55936434	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60377014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6419866	0.83[EUR][1000 genomes]
rs6419867	0.87[EUR][1000 genomes]
rs6551271	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6551272	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6551273	0.92[EUR][1000 genomes]
rs6551274	0.95[EUR][1000 genomes]
rs6551275	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs6551277	1.00[CEU][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6551278	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs6551279	0.86[EUR][1000 genomes]
rs6551280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6551281	1.00[JPT][hapmap]
rs6551282	0.99[EUR][1000 genomes]
rs6551283	0.96[EUR][1000 genomes]
rs6551284	0.97[EUR][1000 genomes]
rs6551285	0.97[EUR][1000 genomes]
rs6551286	0.97[EUR][1000 genomes]
rs6551288	0.97[EUR][1000 genomes]
rs6551289	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6551291	0.95[EUR][1000 genomes]
rs6551292	0.88[EUR][1000 genomes]
rs6551293	0.88[EUR][1000 genomes]
rs6551294	0.88[EUR][1000 genomes]
rs6551296	0.85[EUR][1000 genomes]
rs6551297	0.85[EUR][1000 genomes]
rs6551298	0.85[EUR][1000 genomes]
rs6762453	0.87[EUR][1000 genomes]
rs6767258	0.92[EUR][1000 genomes]
rs6771031	0.88[EUR][1000 genomes]
rs6777019	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs6778708	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6781333	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs6782507	0.95[EUR][1000 genomes]
rs6785359	0.97[EUR][1000 genomes]
rs6785560	0.85[EUR][1000 genomes]
rs6786788	0.93[EUR][1000 genomes]
rs6787824	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6791133	0.99[EUR][1000 genomes]
rs6792208	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6793783	0.93[EUR][1000 genomes]
rs6796355	0.91[EUR][1000 genomes]
rs6801046	0.88[EUR][1000 genomes]
rs6804818	0.93[EUR][1000 genomes]
rs6805804	0.81[EUR][1000 genomes]
rs6805957	0.88[EUR][1000 genomes]
rs73132515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7427047	0.88[EUR][1000 genomes]
rs7427296	0.86[EUR][1000 genomes]
rs7427335	0.88[EUR][1000 genomes]
rs7427704	0.92[EUR][1000 genomes]
rs7428357	0.88[EUR][1000 genomes]
rs7429120	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs7430158	0.99[EUR][1000 genomes]
rs7431074	0.87[EUR][1000 genomes]
rs7431968	1.00[JPT][hapmap]
rs7432509	0.88[EUR][1000 genomes]
rs7433285	0.97[EUR][1000 genomes]
rs7615585	0.88[EUR][1000 genomes]
rs7617691	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs7618080	0.95[EUR][1000 genomes]
rs7618472	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap]
rs7620830	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7626777	0.93[EUR][1000 genomes]
rs7628689	0.96[EUR][1000 genomes]
rs7630028	0.93[EUR][1000 genomes]
rs7630240	0.94[EUR][1000 genomes]
rs7632123	0.97[EUR][1000 genomes]
rs7635996	0.93[EUR][1000 genomes]
rs7639420	0.95[EUR][1000 genomes]
rs7641173	0.95[EUR][1000 genomes]
rs7643923	0.90[EUR][1000 genomes]
rs7650707	0.95[EUR][1000 genomes]
rs7651641	0.92[EUR][1000 genomes]
rs7651999	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7652528	0.90[EUR][1000 genomes]
rs7653652	1.00[CEU][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.99[EUR][1000 genomes]
rs9310066	1.00[CEU][hapmap]
rs9310067	1.00[CEU][hapmap]
rs9310072	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9310074	1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs9310077	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs959049	1.00[CEU][hapmap]
rs959050	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap]
rs9809661	0.88[EUR][1000 genomes]
rs9813894	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs9814057	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9815738	0.82[EUR][1000 genomes]
rs9826925	1.00[JPT][hapmap]
rs9831230	0.88[EUR][1000 genomes]
rs9832011	0.87[EUR][1000 genomes]
rs9834468	0.91[EUR][1000 genomes]
rs9834501	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs9836364	0.85[EUR][1000 genomes]
rs9839322	0.83[EUR][1000 genomes]
rs9841834	0.88[EUR][1000 genomes]
rs9843550	0.88[EUR][1000 genomes]
rs9845776	1.00[CEU][hapmap]
rs9847355	0.88[EUR][1000 genomes]
rs9848258	0.88[EUR][1000 genomes]
rs9849248	0.88[EUR][1000 genomes]
rs9849353	0.88[EUR][1000 genomes]
rs9854138	0.99[EUR][1000 genomes]
rs9856990	0.85[EUR][1000 genomes]
rs9861398	0.92[EUR][1000 genomes]
rs9865335	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs9865578	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9865703	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9865710	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs9866843	0.88[EUR][1000 genomes]
rs9868310	0.86[EUR][1000 genomes]
rs9868977	0.88[EUR][1000 genomes]
rs9873182	0.85[EUR][1000 genomes]
rs9876807	0.88[EUR][1000 genomes]
rs9881255	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916330	chr3:88083580-88884125	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7432838	CGGBP1///LOC728397	Cis_1M	lymphoblastoid	RTeQTL
rs7432838	ZNF654	cis	lymphoblastoid	seeQTL
rs7432838	C3orf38	Cis_1M	lymphoblastoid	RTeQTL
rs7432838	CGGBP1	cis	uninvolved skin	skin_eQTL
rs7432838	ZNF654	cis	Liver	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88128800-88198200	Weak transcription	Esophagus	oesophagus
2	chr3:88135600-88196800	Weak transcription	Hela-S3	cervix
3	chr3:88141000-88197800	Weak transcription	Thymus	Thymus
4	chr3:88145200-88191000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:88145200-88198200	Weak transcription	Aorta	Aorta
6	chr3:88148000-88196400	Weak transcription	Fetal Intestine Small	intestine
7	chr3:88152000-88197000	Weak transcription	Lung	lung
8	chr3:88159600-88197800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:88161000-88197800	Weak transcription	Fetal Stomach	stomach
10	chr3:88162800-88191600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:88162800-88197200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:88162800-88198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:88163600-88197800	Weak transcription	Gastric	stomach
14	chr3:88167600-88197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:88168000-88197800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:88171000-88198000	Weak transcription	Small Intestine	intestine
17	chr3:88171400-88198000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:88175000-88192000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr3:88175800-88197800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:88176400-88191800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr3:88177400-88197800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr3:88178000-88192000	Strong transcription	Dnd41	blood
23	chr3:88178200-88192000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:88179600-88197800	Weak transcription	Spleen	Spleen
25	chr3:88179800-88191600	Strong transcription	Fetal Thymus	thymus
26	chr3:88179800-88197800	Weak transcription	Pancreas	Pancrea
27	chr3:88180000-88192000	Strong transcription	Adipose Nuclei	Adipose
28	chr3:88181000-88198000	Weak transcription	Brain Anterior Caudate	brain
29	chr3:88181000-88198000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:88181200-88191400	Weak transcription	Brain Substantia Nigra	brain
31	chr3:88181200-88191600	Weak transcription	Brain Angular Gyrus	brain
32	chr3:88181800-88191600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:88182400-88196200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:88182400-88197800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:88182600-88197800	Weak transcription	Fetal Heart	heart
36	chr3:88183000-88197000	Weak transcription	Brain Germinal Matrix	brain
37	chr3:88183200-88191200	Weak transcription	Colon Smooth Muscle	Colon
38	chr3:88183600-88191200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:88183800-88192200	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr3:88183800-88192800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:88184200-88191800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:88184200-88198000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:88184400-88191200	Strong transcription	Primary T cells from cord blood	blood
44	chr3:88184800-88191600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:88186600-88191200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr3:88187200-88197800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr3:88188000-88191000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:88188000-88191200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr3:88188000-88191200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:88188000-88191600	Strong transcription	Placenta	Placenta

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