Variant report

Variant	rs327944
Chromosome Location	chr9:108045062-108045063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108030805..108032882-chr9:108043664..108045909,2	MCF-7	breast:
2	chr9:108044800..108047623-chr9:108061922..108064222,3	MCF-7	breast:

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10820792	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10820793	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820795	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820796	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10991598	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991600	0.97[ASN][1000 genomes]
rs10991601	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991607	1.00[ASN][1000 genomes]
rs10991611	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991612	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991613	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991614	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991617	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10991618	0.90[ASN][1000 genomes]
rs12335779	1.00[ASN][1000 genomes]
rs12336008	1.00[ASN][1000 genomes]
rs12343678	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12347364	1.00[ASN][1000 genomes]
rs12348136	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686574	1.00[ASN][1000 genomes]
rs167867	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1705490	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1705491	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs170582	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs179177	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182756	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs186617	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189020	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193007	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193008	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193009	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004725	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089807	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100044	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227887	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227888	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441214	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2900397	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327945	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327946	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327947	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327948	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327949	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327950	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327954	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327955	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327956	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327958	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs327959	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327960	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327961	0.97[ASN][1000 genomes]
rs327962	0.97[ASN][1000 genomes]
rs327963	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327964	0.97[ASN][1000 genomes]
rs327966	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327967	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327968	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327975	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327976	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327977	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327978	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327979	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327980	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327981	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327982	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327983	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327984	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327985	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327986	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327987	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327990	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327991	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327992	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327993	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327995	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327996	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327997	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327998	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327999	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs328000	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328001	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328002	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328003	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328004	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328005	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328006	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328007	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328008	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328010	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328011	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328012	0.88[ASN][1000 genomes]
rs328013	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328014	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328015	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328017	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328018	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328019	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328020	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328021	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35144319	0.97[ASN][1000 genomes]
rs35584395	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366144	0.97[ASN][1000 genomes]
rs370629	0.97[ASN][1000 genomes]
rs371107	0.90[EUR][1000 genomes]
rs374445	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs375034	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376926	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377129	0.97[ASN][1000 genomes]
rs378467	0.90[ASN][1000 genomes]
rs380104	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs380667	0.97[ASN][1000 genomes]
rs382940	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383272	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs384924	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs384947	0.97[ASN][1000 genomes]
rs386565	0.90[ASN][1000 genomes]
rs388679	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs390336	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs390701	0.97[ASN][1000 genomes]
rs391943	0.97[ASN][1000 genomes]
rs398454	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs403316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs410897	0.97[ASN][1000 genomes]
rs416641	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418057	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419443	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs419834	0.89[ASN][1000 genomes]
rs420717	0.90[ASN][1000 genomes]
rs422084	0.95[ASN][1000 genomes]
rs423976	0.97[ASN][1000 genomes]
rs424495	0.90[ASN][1000 genomes]
rs435379	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs438299	0.97[ASN][1000 genomes]
rs439308	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs440290	0.90[ASN][1000 genomes]
rs442605	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs443094	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs445964	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs446641	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs448836	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6479305	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7020772	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7020982	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021008	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7039398	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7858967	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7866947	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription 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	11 gene(s)	inside rSNPs	diseases
4	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108022400-108053600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:108022800-108046000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:108023600-108045200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr9:108027200-108051000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr9:108028400-108053000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:108030000-108045200	Enhancers	Brain Hippocampus Middle	brain
7	chr9:108031200-108045200	Weak transcription	Liver	Liver
8	chr9:108033200-108056200	Weak transcription	Primary T cells from cord blood	blood
9	chr9:108033400-108048400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:108033800-108049400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:108033800-108052800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:108034000-108049800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:108034200-108053600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:108038000-108048600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:108038400-108045200	Weak transcription	Fetal Thymus	thymus
16	chr9:108039800-108045200	Weak transcription	Fetal Intestine Small	intestine
17	chr9:108039800-108046800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr9:108041000-108046000	Weak transcription	Psoas Muscle	Psoas
19	chr9:108041200-108045200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:108041400-108045400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:108041800-108046400	Enhancers	Brain Substantia Nigra	brain
22	chr9:108042400-108045600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:108042400-108046400	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:108043200-108046400	Enhancers	Brain Anterior Caudate	brain
25	chr9:108043400-108045200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:108043600-108057400	Weak transcription	HSMM	muscle
27	chr9:108043600-108059400	Weak transcription	NHLF	lung
28	chr9:108043600-108059800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:108044000-108045200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:108044000-108045200	Weak transcription	Pancreas	Pancrea
31	chr9:108044000-108045200	Weak transcription	Right Ventricle	heart
32	chr9:108044000-108046200	Weak transcription	Esophagus	oesophagus
33	chr9:108044000-108053600	Weak transcription	Gastric	stomach
34	chr9:108044000-108053600	Weak transcription	Left Ventricle	heart
35	chr9:108044200-108045200	Weak transcription	Stomach Mucosa	stomach
36	chr9:108044200-108052400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:108044400-108045400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr9:108044400-108045600	Weak transcription	Small Intestine	intestine
39	chr9:108044800-108046400	Enhancers	HepG2	liver
40	chr9:108044800-108052000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:108044800-108052400	Weak transcription	HMEC	breast
42	chr9:108044800-108056600	Weak transcription	Hela-S3	cervix
43	chr9:108045000-108045400	Enhancers	Ovary	ovary
44	chr9:108045000-108046200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr9:108045000-108046400	Enhancers	Brain Angular Gyrus	brain
46	chr9:108045000-108046400	Enhancers	Fetal Intestine Large	intestine
47	chr9:108045000-108046600	Enhancers	Rectal Mucosa Donor 31	rectum

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