Variant report

Variant	rs73246625
Chromosome Location	chr6:163951317-163951318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163832850..163838270-chr6:163950827..163956360,5	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs16895106	0.83[AMR][1000 genomes]
rs16895109	0.83[AMR][1000 genomes]
rs16895112	0.83[AMR][1000 genomes]
rs56003099	0.93[AFR][1000 genomes]
rs56276977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56375308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57075041	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57318320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767588	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57832687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845473	1.00[AFR][1000 genomes]
rs57904637	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57945325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57992259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58111601	0.93[AFR][1000 genomes]
rs58159136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58495293	1.00[AFR][1000 genomes]
rs59991282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60058520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353098	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60606954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60873852	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61358847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61586762	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934729	0.83[AMR][1000 genomes]
rs6936664	0.83[AMR][1000 genomes]
rs73244762	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244765	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244775	0.93[AFR][1000 genomes]
rs73244776	0.93[AFR][1000 genomes]
rs73244777	0.93[AFR][1000 genomes]
rs73244778	0.93[AFR][1000 genomes]
rs73244781	0.93[AFR][1000 genomes]
rs73244785	1.00[AFR][1000 genomes]
rs73244786	1.00[AFR][1000 genomes]
rs73244787	1.00[AFR][1000 genomes]
rs73244801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246641	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246647	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246651	0.83[AMR][1000 genomes]
rs73246654	0.93[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246675	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784423	0.93[AFR][1000 genomes]
rs73784425	0.93[AFR][1000 genomes]
rs73784461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787626	0.86[AFR][1000 genomes]
rs73787637	0.83[AFR][1000 genomes]
rs7771996	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
2	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
4	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:163935200-163952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:163935200-163958800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:163935200-163959400	Weak transcription	Lung	lung
9	chr6:163935400-163951600	Weak transcription	Pancreas	Pancrea
10	chr6:163936800-163953600	Enhancers	Brain Hippocampus Middle	brain
11	chr6:163936800-163957400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:163939800-163956200	Enhancers	Brain Anterior Caudate	brain
13	chr6:163940200-163983000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:163944000-163952200	Weak transcription	Gastric	stomach
15	chr6:163944000-163952200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:163944200-163952200	Weak transcription	K562	blood
17	chr6:163944200-163953600	Weak transcription	GM12878-XiMat	blood
18	chr6:163944200-163957400	Enhancers	Brain Substantia Nigra	brain
19	chr6:163944600-163952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:163945000-163951800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:163945000-163957400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:163945200-163951600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:163945800-163955800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:163946200-163955800	Enhancers	Liver	Liver
25	chr6:163946600-163952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:163946800-163952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:163947200-163953600	Enhancers	Adipose Nuclei	Adipose
28	chr6:163947800-163952200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr6:163947800-163952800	Enhancers	Brain Angular Gyrus	brain
30	chr6:163947800-163953600	Enhancers	HSMMtube	muscle
31	chr6:163948200-163951800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr6:163948400-163958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:163948600-163951400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:163948600-163951800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:163948600-163959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:163948600-163964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:163949000-163952600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:163949000-163952600	Enhancers	Colon Smooth Muscle	Colon
39	chr6:163949000-163952600	Enhancers	NHEK	skin
40	chr6:163949000-163958000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr6:163949200-163955800	Enhancers	Brain Germinal Matrix	brain
42	chr6:163949400-163951600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:163949400-163951800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:163949400-163952200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr6:163949400-163952600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:163949400-163952800	Enhancers	Osteobl	bone
47	chr6:163949400-163953000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:163949400-163959200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:163949600-163952400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:163949600-163953400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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