Variant report

Variant	rs73246641
Chromosome Location	chr6:163958940-163958941
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163957772..163960340-chr6:163964403..163966144,2	MCF-7	breast:
2	chr6:163957257..163960069-chr6:163960925..163963530,2	K562	blood:
3	chr6:163953551..163956028-chr6:163958889..163960899,2	K562	blood:
4	chr6:163956713..163960069-chr6:163960925..163963530,5	K562	blood:
5	chr6:163834027..163837000-chr6:163957594..163959485,2	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs16895106	0.83[AMR][1000 genomes]
rs16895109	0.83[AMR][1000 genomes]
rs16895112	0.83[AMR][1000 genomes]
rs56003099	0.87[AFR][1000 genomes]
rs56276977	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56375308	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57075041	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57318320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767588	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57832687	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845473	0.93[AFR][1000 genomes]
rs57904637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57945325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57992259	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58111601	0.87[AFR][1000 genomes]
rs58159136	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58495293	0.93[AFR][1000 genomes]
rs59991282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60058520	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353098	1.00[AMR][1000 genomes]
rs60606954	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632275	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60873852	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61358847	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61586762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934718	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934729	0.83[AMR][1000 genomes]
rs6936664	0.83[AMR][1000 genomes]
rs73244762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244775	0.87[AFR][1000 genomes]
rs73244776	0.87[AFR][1000 genomes]
rs73244777	0.87[AFR][1000 genomes]
rs73244778	0.87[AFR][1000 genomes]
rs73244781	0.87[AFR][1000 genomes]
rs73244785	0.93[AFR][1000 genomes]
rs73244786	0.93[AFR][1000 genomes]
rs73244787	0.93[AFR][1000 genomes]
rs73244801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246605	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246651	0.83[AMR][1000 genomes]
rs73246654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246656	0.83[AMR][1000 genomes]
rs73246662	0.83[AMR][1000 genomes]
rs73246665	0.83[AMR][1000 genomes]
rs73246671	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246688	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246696	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246702	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248703	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784423	0.87[AFR][1000 genomes]
rs73784425	0.87[AFR][1000 genomes]
rs73784461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784465	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784482	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787626	0.81[AFR][1000 genomes]
rs9688570	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027863	chr6:163934616-163965216	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
2	chr6:163935200-163959400	Weak transcription	Lung	lung
3	chr6:163940200-163983000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:163948600-163959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:163948600-163964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:163949400-163959200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:163949600-163975200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:163949600-163992000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:163949600-163995400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:163951000-163978800	Weak transcription	Fetal Kidney	kidney
11	chr6:163951200-163993200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:163951600-163985800	Weak transcription	Hela-S3	cervix
13	chr6:163951800-163973400	Weak transcription	Fetal Stomach	stomach
14	chr6:163952400-163984400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr6:163952600-163959200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:163952600-163959400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:163952600-163960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:163952600-163960400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:163952600-163960800	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:163952600-163961400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:163952600-163972000	Weak transcription	Primary T cells from cord blood	blood
22	chr6:163952600-163979600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:163952600-163981400	Weak transcription	Pancreas	Pancrea
24	chr6:163952600-163982800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:163952600-163996600	Weak transcription	Gastric	stomach
26	chr6:163953000-163959600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:163953800-163964000	Weak transcription	Fetal Brain Male	brain
28	chr6:163954000-163960200	Weak transcription	Spleen	Spleen
29	chr6:163954000-163968400	Weak transcription	K562	blood
30	chr6:163954000-163979400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:163954000-163984200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:163954000-163984400	Weak transcription	Aorta	Aorta
33	chr6:163954000-163991600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:163954200-163959400	Weak transcription	Left Ventricle	heart
35	chr6:163954800-163959400	Weak transcription	Right Atrium	heart
36	chr6:163954800-163984200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:163955000-163979600	Weak transcription	NHEK	skin
38	chr6:163955200-163984200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:163955600-163960400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr6:163955600-163960800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:163955600-163962600	Weak transcription	Fetal Brain Female	brain
42	chr6:163955800-163983000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:163955800-163984400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:163956000-163959400	Weak transcription	Right Ventricle	heart
45	chr6:163956000-163968400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:163956000-163978000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:163956000-163979400	Weak transcription	NHLF	lung
48	chr6:163956200-163959600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:163956200-163979800	Weak transcription	NHDF-Ad	bronchial
50	chr6:163956800-163960800	Strong transcription	Primary monocytes fromperipheralblood	blood

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