Variant report

Variant	rs2534810
Chromosome Location	chr6:30484588-30484589
allele	G/T
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
ENSG00000204590	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000222894	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1058318	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1264437	0.82[EUR][1000 genomes]
rs1264438	0.82[EUR][1000 genomes]
rs1264439	0.82[EUR][1000 genomes]
rs1264440	0.82[EUR][1000 genomes]
rs1264448	0.80[EUR][1000 genomes]
rs1264456	0.85[EUR][1000 genomes]
rs1362119	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1468079	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2023608	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2023609	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074503	0.86[EUR][1000 genomes]
rs2074504	0.84[EUR][1000 genomes]
rs2074505	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2109477	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2269709	0.85[EUR][1000 genomes]
rs2269710	0.82[EUR][1000 genomes]
rs2429655	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2429656	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2508021	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2508022	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508023	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508024	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2516639	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516641	0.86[EUR][1000 genomes]
rs2516642	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516643	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516644	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516646	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516647	0.81[EUR][1000 genomes]
rs2516648	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516649	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516653	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516655	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2516656	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516662	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516665	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2524221	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2524223	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2524224	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2524225	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2524226	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534802	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2534803	0.87[EUR][1000 genomes]
rs2534804	0.87[EUR][1000 genomes]
rs2534805	0.85[EUR][1000 genomes]
rs2534806	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534807	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2534808	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2534809	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534811	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2534812	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2534813	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2534814	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2534815	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534817	0.87[EUR][1000 genomes]
rs2534820	0.85[EUR][1000 genomes]
rs2534821	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2534823	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534824	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534825	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844713	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2844714	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844715	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2844716	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844717	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844718	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844720	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844721	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2844722	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2844723	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2844724	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844725	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3094718	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3095280	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3130039	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130041	0.85[EUR][1000 genomes]
rs3130043	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3130045	0.85[EUR][1000 genomes]
rs3130240	0.90[EUR][1000 genomes]
rs3130242	0.86[EUR][1000 genomes]
rs3130243	0.86[EUR][1000 genomes]
rs3130244	0.87[EUR][1000 genomes]
rs3132609	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3132612	0.83[EUR][1000 genomes]
rs3132613	0.86[EUR][1000 genomes]
rs3132614	0.88[EUR][1000 genomes]
rs9262070	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9262082	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9262118	0.88[EUR][1000 genomes]
rs975195	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996588	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996589	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30476600-30485200	Weak transcription	Small Intestine	intestine
2	chr6:30482400-30485000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr6:30483000-30484600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr6:30483000-30484800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:30483000-30484800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr6:30483000-30484800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr6:30483200-30484600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:30483200-30484600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:30483200-30484600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr6:30483200-30484600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:30483200-30484600	Active TSS	Brain Anterior Caudate	brain
12	chr6:30483200-30485000	Flanking Active TSS	Dnd41	blood
13	chr6:30483400-30484600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr6:30483400-30484600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr6:30483400-30484600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr6:30483400-30484600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr6:30483400-30484800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:30483400-30484800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:30483400-30484800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr6:30483400-30484800	Active TSS	Thymus	Thymus
21	chr6:30483600-30484600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:30483600-30484600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:30483600-30484600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:30483600-30484600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:30483600-30484600	Active TSS	Primary T cells from cord blood	blood
26	chr6:30483600-30484600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:30483600-30484600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:30483600-30484600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr6:30483600-30484600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:30483600-30484600	Active TSS	Colon Smooth Muscle	Colon
31	chr6:30483600-30484600	Active TSS	Duodenum Mucosa	Duodenum
32	chr6:30483600-30484600	Bivalent/Poised TSS	Fetal Brain Female	brain
33	chr6:30483600-30484600	Active TSS	Fetal Kidney	kidney
34	chr6:30483600-30484600	Active TSS	Fetal Lung	lung
35	chr6:30483600-30484600	Flanking Active TSS	Placenta	Placenta
36	chr6:30483600-30484600	Flanking Active TSS	Fetal Thymus	thymus
37	chr6:30483600-30484600	Active TSS	Pancreas	Pancrea
38	chr6:30483600-30484600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
39	chr6:30483600-30484600	Active TSS	NH-A	brain
40	chr6:30483600-30484800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:30483600-30484800	Active TSS	Fetal Intestine Large	intestine
42	chr6:30483800-30484600	Active TSS	H1 Cell Line	embryonic stem cell
43	chr6:30483800-30484600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:30483800-30484600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:30483800-30484600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:30483800-30484600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:30483800-30484600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr6:30483800-30484600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr6:30483800-30484600	Bivalent/Poised TSS	Fetal Brain Male	brain
50	chr6:30483800-30484600	Active TSS	Pancreatic Islets	Pancreatic Islet

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