Variant report

Variant	rs2844716
Chromosome Location	chr6:30486434-30486435
allele	C/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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	chr6:30486196..30489557-chr6:30583220..30586473,3	MCF-7	breast:
4	chr6:30482846..30485548-chr6:30486423..30490763,6	MCF-7	breast:
5	chr6:30485774..30489692-chr6:30522230..30524813,4	MCF-7	breast:
6	chr6:30481563..30487862-chr6:30521673..30526487,12	K562	blood:
7	chr6:30486362..30488981-chr6:30524366..30525900,2	K562	blood:
8	chr6:30451638..30453574-chr6:30484466..30486463,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204569	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204568	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[EUR][1000 genomes]
rs1264440	0.83[EUR][1000 genomes]
rs1362119	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1468079	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2023608	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2023609	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2074503	0.81[EUR][1000 genomes]
rs2074505	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2109477	0.83[AMR][1000 genomes]
rs2269709	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2269710	0.82[EUR][1000 genomes]
rs2429655	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2429656	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2508021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508022	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2508023	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2508024	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516639	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2516641	0.81[EUR][1000 genomes]
rs2516642	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2516643	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2516644	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2516646	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2516647	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2516648	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2516649	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2516653	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2516655	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516656	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2516659	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2516662	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2516665	0.80[AMR][1000 genomes]
rs2524221	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2524223	0.80[EUR][1000 genomes]
rs2524224	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2524225	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2524226	0.82[EUR][1000 genomes]
rs2534802	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2534803	0.82[EUR][1000 genomes]
rs2534804	0.82[EUR][1000 genomes]
rs2534805	0.83[EUR][1000 genomes]
rs2534806	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2534807	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2534808	0.85[EUR][1000 genomes]
rs2534809	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2534810	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2534811	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2534812	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534813	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2534814	0.85[EUR][1000 genomes]
rs2534815	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2534817	0.82[EUR][1000 genomes]
rs2534821	0.81[EUR][1000 genomes]
rs2534823	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2534824	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2534825	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844713	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2844714	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2844715	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2844717	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844718	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2844720	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2844721	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2844722	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2844723	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2844724	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844725	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3094718	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3095280	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3130039	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130041	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3130043	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130045	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130240	0.84[EUR][1000 genomes]
rs3130242	0.80[EUR][1000 genomes]
rs3130243	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130244	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3132609	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3132613	0.80[EUR][1000 genomes]
rs3132614	0.82[EUR][1000 genomes]
rs9262070	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9262082	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9262118	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs975195	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs996588	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs996589	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[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:49 , 50 per page) page: 1

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

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