Variant report

Variant	rs327980
Chromosome Location	chr9:108052316-108052317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:108005087..108008498-chr9:108050324..108055404,7	MCF-7	breast:
2	chr9:108051884..108054784-chr9:108055791..108058847,3	MCF-7	breast:
3	chr9:108006756..108009543-chr9:108051325..108053584,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070214	Chromatin interaction

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

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

rs_ID	r²[population]
rs10820792	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10820793	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820795	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820796	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10991598	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991600	0.97[ASN][1000 genomes]
rs10991601	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10991607	1.00[ASN][1000 genomes]
rs10991611	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991612	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991613	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991614	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991617	0.88[AFR][1000 genomes];0.91[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	0.89[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	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1705491	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs170582	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs179177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182756	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs186617	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs189020	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193007	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193009	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004725	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089807	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100044	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227888	0.85[AFR][1000 genomes];0.93[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	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327944	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327945	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327947	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327954	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327955	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	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327961	0.97[ASN][1000 genomes]
rs327962	0.97[ASN][1000 genomes]
rs327963	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327964	0.97[ASN][1000 genomes]
rs327966	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327967	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327968	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327975	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327976	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327977	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327978	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327979	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327981	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327982	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327983	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327984	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327985	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327986	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327987	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327990	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327991	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327992	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327993	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327995	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327996	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327997	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327998	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327999	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs328000	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328002	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328003	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328004	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328005	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328008	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328010	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328011	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328012	0.88[ASN][1000 genomes]
rs328013	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328014	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328015	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328017	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328018	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328019	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328020	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328021	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35144319	0.97[ASN][1000 genomes]
rs35584395	0.82[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	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs375034	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs376926	0.88[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	0.89[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	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs410897	0.97[ASN][1000 genomes]
rs416641	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418057	0.80[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	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6479305	0.82[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	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7021008	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7039398	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7858967	0.82[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108022400-108053600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:108028400-108053000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:108033200-108056200	Weak transcription	Primary T cells from cord blood	blood
4	chr9:108033800-108052800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:108034200-108053600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:108043600-108057400	Weak transcription	HSMM	muscle
7	chr9:108043600-108059400	Weak transcription	NHLF	lung
8	chr9:108043600-108059800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:108044000-108053600	Weak transcription	Gastric	stomach
10	chr9:108044000-108053600	Weak transcription	Left Ventricle	heart
11	chr9:108044200-108052400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:108044800-108052400	Weak transcription	HMEC	breast
13	chr9:108044800-108056600	Weak transcription	Hela-S3	cervix
14	chr9:108045600-108052800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr9:108045600-108053000	Weak transcription	A549	lung
16	chr9:108046200-108052400	Weak transcription	Fetal Intestine Small	intestine
17	chr9:108046200-108053000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:108046400-108052800	Weak transcription	Brain Anterior Caudate	brain
19	chr9:108046400-108053000	Weak transcription	Small Intestine	intestine
20	chr9:108046400-108053200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:108046400-108053600	Weak transcription	Pancreas	Pancrea
22	chr9:108049200-108053600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:108049400-108074200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:108049800-108057400	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr9:108050000-108052800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr9:108050200-108052400	Weak transcription	Brain Angular Gyrus	brain
27	chr9:108050200-108052800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:108050200-108053200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:108050200-108053600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr9:108050200-108054800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:108050200-108061400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr9:108050200-108061800	Weak transcription	Fetal Stomach	stomach
33	chr9:108050400-108052800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:108050600-108056000	Enhancers	Placenta	Placenta
35	chr9:108051000-108053600	Enhancers	Brain Substantia Nigra	brain
36	chr9:108051000-108057800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr9:108051000-108061600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:108051200-108052400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr9:108051200-108052800	Enhancers	HepG2	liver
40	chr9:108051200-108055000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr9:108051400-108052800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr9:108051400-108056600	Enhancers	Brain Hippocampus Middle	brain
43	chr9:108051800-108052400	Weak transcription	Stomach Mucosa	stomach
44	chr9:108052000-108052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:108052000-108052800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:108052000-108052800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr9:108052000-108054000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr9:108052000-108054200	Enhancers	Fetal Intestine Large	intestine
49	chr9:108052200-108052600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:108052200-108052600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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