Variant report

Variant	rs2534805
Chromosome Location	chr6:30486063-30486064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30482719..30486624-chr6:30535507..30541696,8	K562	blood:
2	chr6:30482331..30485529-chr6:30485801..30488239,4	MCF-7	breast:
3	chr6:30456365..30459515-chr6:30480416..30486332,6	MCF-7	breast:
4	chr6:30485774..30489692-chr6:30522230..30524813,4	MCF-7	breast:
5	chr6:30481563..30487862-chr6:30521673..30526487,12	K562	blood:
6	chr6:30451638..30453574-chr6:30484466..30486463,2	K562	blood:

Variant related genes	Relation type
ENSG00000235781	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204592	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1058318	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1264432	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1264437	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1264438	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1264439	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1264440	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1264448	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1264456	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1362119	0.83[EUR][1000 genomes]
rs1468079	0.82[EUR][1000 genomes]
rs2023608	0.86[EUR][1000 genomes]
rs2023609	0.86[EUR][1000 genomes]
rs2074503	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2074504	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2074505	0.81[EUR][1000 genomes]
rs2252745	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2269709	0.83[EUR][1000 genomes]
rs2269710	0.80[EUR][1000 genomes]
rs2429655	0.86[EUR][1000 genomes]
rs2508021	0.82[EUR][1000 genomes]
rs2516639	0.82[EUR][1000 genomes]
rs2516641	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2516642	0.81[EUR][1000 genomes]
rs2516643	0.82[EUR][1000 genomes]
rs2516644	0.83[EUR][1000 genomes]
rs2516646	0.83[EUR][1000 genomes]
rs2516648	0.86[EUR][1000 genomes]
rs2516649	0.84[EUR][1000 genomes]
rs2516653	0.81[EUR][1000 genomes]
rs2516656	0.86[EUR][1000 genomes]
rs2516662	0.86[EUR][1000 genomes]
rs2524221	0.82[EUR][1000 genomes]
rs2524223	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2524224	0.81[EUR][1000 genomes]
rs2524226	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2534802	0.85[EUR][1000 genomes]
rs2534803	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534804	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534807	0.86[EUR][1000 genomes]
rs2534808	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2534809	0.82[EUR][1000 genomes]
rs2534810	0.85[EUR][1000 genomes]
rs2534812	0.83[EUR][1000 genomes]
rs2534813	0.86[EUR][1000 genomes]
rs2534814	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2534815	0.83[EUR][1000 genomes]
rs2534817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534820	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2534821	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2534823	0.84[EUR][1000 genomes]
rs2534824	0.84[EUR][1000 genomes]
rs2534825	0.83[EUR][1000 genomes]
rs2844713	0.82[EUR][1000 genomes]
rs2844714	0.82[EUR][1000 genomes]
rs2844715	0.82[EUR][1000 genomes]
rs2844716	0.83[EUR][1000 genomes]
rs2844717	0.86[EUR][1000 genomes]
rs2844718	0.87[EUR][1000 genomes]
rs2844720	0.86[EUR][1000 genomes]
rs2844723	0.87[EUR][1000 genomes]
rs2844724	0.86[EUR][1000 genomes]
rs2844725	0.82[EUR][1000 genomes]
rs3094718	0.83[EUR][1000 genomes]
rs3130039	0.82[EUR][1000 genomes]
rs3130041	0.84[EUR][1000 genomes]
rs3130240	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3130242	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3130243	0.84[EUR][1000 genomes]
rs3132612	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3132613	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3132614	0.82[EUR][1000 genomes]
rs9262082	0.86[EUR][1000 genomes]
rs975195	0.86[EUR][1000 genomes]
rs996588	0.87[EUR][1000 genomes]
rs996589	0.86[EUR][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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30484400-30486400	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr6:30484400-30486400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr6:30484400-30486400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr6:30484400-30487000	Weak transcription	Esophagus	oesophagus
5	chr6:30484400-30487200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:30484400-30487200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:30484400-30487400	Enhancers	Primary hematopoietic stem cells	blood
8	chr6:30484400-30487800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:30484400-30488200	Weak transcription	Stomach Mucosa	stomach
10	chr6:30484400-30488600	Weak transcription	Colonic Mucosa	Colon
11	chr6:30484400-30488800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:30484600-30486200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:30484600-30486400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:30484600-30486800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:30484600-30486800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:30484600-30487200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:30484600-30487600	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:30484600-30487800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:30484600-30487800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:30484600-30488800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:30484600-30488800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:30484600-30489400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr6:30484800-30486200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr6:30484800-30487800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:30484800-30487800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:30484800-30487800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:30484800-30487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:30484800-30488200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr6:30484800-30488200	Weak transcription	HepG2	liver
30	chr6:30484800-30488400	Weak transcription	Osteobl	bone
31	chr6:30484800-30488600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:30484800-30495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:30485000-30486600	Weak transcription	Primary B cells from cord blood	blood
34	chr6:30485000-30486600	Enhancers	Dnd41	blood
35	chr6:30485000-30486800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr6:30485000-30488000	Weak transcription	Placenta	Placenta
37	chr6:30485000-30488000	Weak transcription	HUVEC	blood vessel
38	chr6:30485000-30489400	Enhancers	Primary T cells from cord blood	blood
39	chr6:30485200-30486400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:30485200-30486600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr6:30485400-30486600	ZNF genes & repeats	Fetal Thymus	thymus
42	chr6:30485600-30486400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr6:30485600-30486600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:30485800-30486200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:30485800-30488400	Weak transcription	Lung	lung
46	chr6:30486000-30487400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:30486000-30500000	Weak transcription	Thymus	Thymus

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