Variant report

Variant	rs4280960
Chromosome Location	chr6:13193859-13193860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13184097..13187942-chr6:13192836..13196557,4	K562	blood:
2	chr6:13192594..13195219-chr6:13328276..13330019,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145979	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10484269	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1150599	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1150600	1.00[ASN][1000 genomes]
rs1232378	0.97[ASN][1000 genomes]
rs3864313	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3864314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3864315	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3886292	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3916163	0.99[ASN][1000 genomes]
rs3932443	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3932444	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4262187	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56797484	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73725622	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7746506	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349503	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367373	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369918	0.80[ASN][1000 genomes]
rs9381820	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395526	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395527	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv883450	chr6:13166341-13196011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:13182000-13205400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:13182000-13211800	Weak transcription	Fetal Brain Female	brain
4	chr6:13182000-13212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:13183000-13195200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:13183000-13207000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:13184000-13220800	Weak transcription	Brain Germinal Matrix	brain
9	chr6:13184200-13197000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:13185000-13202800	Weak transcription	Brain Anterior Caudate	brain
11	chr6:13185200-13204000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:13185200-13205200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:13185400-13204800	Weak transcription	Lung	lung
14	chr6:13185400-13205800	Weak transcription	Aorta	Aorta
15	chr6:13185400-13205800	Weak transcription	Pancreas	Pancrea
16	chr6:13187400-13217400	Weak transcription	Right Atrium	heart
17	chr6:13189400-13196000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:13191200-13204400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:13191600-13195400	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:13191800-13210800	Weak transcription	Fetal Heart	heart
21	chr6:13192000-13197000	Weak transcription	Left Ventricle	heart
22	chr6:13192000-13205600	Weak transcription	Right Ventricle	heart
23	chr6:13192400-13216800	Weak transcription	Fetal Intestine Small	intestine
24	chr6:13193400-13194800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:13193400-13195000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:13193400-13195400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:13193400-13205400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:13193600-13195200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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