Variant report

Variant	rs2534809
Chromosome Location	chr6:30485365-30485366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30482665..30485731-chr6:30524141..30525971,3	MCF-7	breast:
2	chr6:30482719..30486624-chr6:30535507..30541696,8	K562	blood:
3	chr6:30455700..30459615-chr6:30482438..30485842,11	MCF-7	breast:
4	chr6:30483908..30485878-chr6:30522837..30525858,6	K562	blood:
5	chr6:30482934..30485578-chr6:30684677..30686611,2	K562	blood:
6	chr6:30456365..30459515-chr6:30480416..30486332,6	MCF-7	breast:
7	chr6:30467082..30468582-chr6:30484072..30485901,2	K562	blood:
8	chr6:30455872..30460443-chr6:30482529..30486009,9	K562	blood:
9	chr6:30481563..30487862-chr6:30521673..30526487,12	K562	blood:
10	chr6:30481743..30485761-chr6:30582102..30585444,5	K562	blood:
11	chr6:30482489..30485588-chr6:30582296..30586114,5	K562	blood:
12	chr6:30451638..30453574-chr6:30484466..30486463,2	K562	blood:
13	chr6:30456467..30458810-chr6:30482542..30485985,4	K562	blood:
14	chr6:30483905..30485578-chr6:30685111..30687168,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204576	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1058318	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1264456	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1362119	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1468079	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2023608	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2023609	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074503	0.83[EUR][1000 genomes]
rs2074504	0.80[EUR][1000 genomes]
rs2074505	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2109477	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2269709	0.81[EUR][1000 genomes]
rs2269710	0.80[EUR][1000 genomes]
rs2429655	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2429656	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508021	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2508022	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2508023	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2508024	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2516639	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2516641	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2516642	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2516643	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516644	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516646	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516648	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516649	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516653	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516655	0.84[EUR][1000 genomes]
rs2516656	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516662	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516665	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2524221	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2524223	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2524224	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2524225	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2524226	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2534802	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534803	0.84[EUR][1000 genomes]
rs2534804	0.84[EUR][1000 genomes]
rs2534805	0.82[EUR][1000 genomes]
rs2534806	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2534807	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534808	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2534810	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534811	0.81[AMR][1000 genomes]
rs2534812	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2534813	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534814	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2534815	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2534817	0.84[EUR][1000 genomes]
rs2534820	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2534821	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2534823	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2534824	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2534825	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844713	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2844714	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2844715	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2844716	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2844717	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844718	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844720	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844721	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2844722	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2844723	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2844724	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844725	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3094718	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3095280	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3130039	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3130041	0.82[EUR][1000 genomes]
rs3130043	0.83[EUR][1000 genomes]
rs3130045	0.83[EUR][1000 genomes]
rs3130240	0.86[EUR][1000 genomes]
rs3130242	0.82[EUR][1000 genomes]
rs3130243	0.82[EUR][1000 genomes]
rs3130244	0.83[EUR][1000 genomes]
rs3132609	0.84[EUR][1000 genomes]
rs3132613	0.82[EUR][1000 genomes]
rs3132614	0.85[EUR][1000 genomes]
rs9262070	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9262082	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9262118	0.84[EUR][1000 genomes]
rs975195	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs996588	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs996589	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
7	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30484400-30485600	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:30484400-30485800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:30484400-30485800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:30484400-30486000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:30484400-30486400	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr6:30484400-30486400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr6:30484400-30486400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:30484400-30487000	Weak transcription	Esophagus	oesophagus
9	chr6:30484400-30487200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:30484400-30487200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:30484400-30487400	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:30484400-30487800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:30484400-30488200	Weak transcription	Stomach Mucosa	stomach
14	chr6:30484400-30488600	Weak transcription	Colonic Mucosa	Colon
15	chr6:30484400-30488800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:30484600-30485400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:30484600-30485400	Enhancers	Fetal Thymus	thymus
18	chr6:30484600-30485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:30484600-30485800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:30484600-30486200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:30484600-30486400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr6:30484600-30486800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:30484600-30486800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:30484600-30487200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:30484600-30487600	Weak transcription	Colon Smooth Muscle	Colon
26	chr6:30484600-30487800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:30484600-30487800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:30484600-30488800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:30484600-30488800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:30484600-30489400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr6:30484800-30485600	Weak transcription	Thymus	Thymus
32	chr6:30484800-30486200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:30484800-30487800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:30484800-30487800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:30484800-30487800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:30484800-30487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:30484800-30488200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:30484800-30488200	Weak transcription	HepG2	liver
39	chr6:30484800-30488400	Weak transcription	Osteobl	bone
40	chr6:30484800-30488600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:30484800-30495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:30485000-30485600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:30485000-30486600	Weak transcription	Primary B cells from cord blood	blood
44	chr6:30485000-30486600	Enhancers	Dnd41	blood
45	chr6:30485000-30486800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr6:30485000-30488000	Weak transcription	Placenta	Placenta
47	chr6:30485000-30488000	Weak transcription	HUVEC	blood vessel
48	chr6:30485000-30489400	Enhancers	Primary T cells from cord blood	blood
49	chr6:30485200-30485400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:30485200-30485400	Enhancers	Small Intestine	intestine

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