Variant report

Variant	rs73462251
Chromosome Location	chr6:79581175-79581176
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	chr6:79576198..79578688-chr6:79580398..79583072,2	K562	blood:
2	chr6:79576248..79579264-chr6:79581167..79583899,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146243	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs35686657	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55682143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55786726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56735945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57023887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58284219	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60132767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60902607	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61649774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6917206	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462228	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462294	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462296	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73464119	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73464137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73464147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466210	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73474280	1.00[EUR][1000 genomes]
rs73764052	1.00[AMR][1000 genomes]
rs73764092	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1839807	chr6:79532610-79606615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79577800-79587200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:79577800-79587400	Weak transcription	Esophagus	oesophagus
3	chr6:79577800-79597200	Weak transcription	Gastric	stomach
4	chr6:79578000-79581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:79578200-79581200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:79578200-79583000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:79578200-79583400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:79578200-79583400	Weak transcription	Colonic Mucosa	Colon
9	chr6:79578200-79586200	Weak transcription	Lung	lung
10	chr6:79578200-79586400	Weak transcription	Aorta	Aorta
11	chr6:79578200-79587000	Weak transcription	Fetal Thymus	thymus
12	chr6:79578200-79587200	Weak transcription	Thymus	Thymus
13	chr6:79578200-79587400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:79578200-79587400	Weak transcription	Pancreas	Pancrea
15	chr6:79578200-79589400	Weak transcription	Psoas Muscle	Psoas
16	chr6:79578200-79590800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:79578200-79592400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:79578200-79592800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:79578200-79597800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:79578200-79608600	Weak transcription	Adipose Nuclei	Adipose
21	chr6:79578200-79608600	Weak transcription	Left Ventricle	heart
22	chr6:79578200-79613600	Weak transcription	HSMM	muscle
23	chr6:79578400-79581400	Weak transcription	Osteobl	bone
24	chr6:79578400-79582000	Weak transcription	Primary B cells from cord blood	blood
25	chr6:79578400-79584800	Weak transcription	Fetal Kidney	kidney
26	chr6:79578400-79585000	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:79578400-79585200	Weak transcription	Fetal Intestine Small	intestine
28	chr6:79578400-79585800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr6:79578400-79586800	Weak transcription	Brain Anterior Caudate	brain
30	chr6:79578400-79589400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:79578400-79589400	Weak transcription	Fetal Brain Male	brain
32	chr6:79578400-79593400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr6:79578400-79613800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:79578400-79619800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:79578400-79620000	Weak transcription	Right Ventricle	heart
36	chr6:79578600-79581600	Weak transcription	Hela-S3	cervix
37	chr6:79578600-79582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:79578600-79583200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:79578600-79583200	Weak transcription	Brain Angular Gyrus	brain
40	chr6:79578600-79583600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr6:79578600-79583600	Weak transcription	Fetal Lung	lung
42	chr6:79578600-79584400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:79578600-79584600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:79578600-79585400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:79578600-79586200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr6:79578600-79586400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:79578600-79586400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:79578600-79586800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr6:79578600-79587400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:79578600-79593200	Weak transcription	NHEK	skin

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