Variant report

Variant	rs72946607
Chromosome Location	chr1:86095009-86095010
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86049608..86052158-chr1:86093207..86095698,2	MCF-7	breast:
2	chr1:86045129..86047121-chr1:86093559..86095071,2	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56845363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57279034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60377914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61616564	1.00[AMR][1000 genomes]
rs6682426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944654	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944667	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946612	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946658	1.00[AMR][1000 genomes]
rs72946661	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946671	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948631	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950619	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7517522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86083800-86095200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:86083800-86103200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:86088200-86101800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:86088400-86101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:86088400-86102000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:86088400-86103000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:86088600-86101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:86088600-86103000	Weak transcription	NHEK	skin
9	chr1:86088800-86101000	Weak transcription	Dnd41	blood
10	chr1:86088800-86101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:86088800-86101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:86089400-86102600	Weak transcription	GM12878-XiMat	blood
13	chr1:86089400-86103000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:86091200-86103200	Weak transcription	Brain Angular Gyrus	brain
15	chr1:86091800-86095600	Strong transcription	Primary T cells from cord blood	blood
16	chr1:86091800-86102400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:86091800-86107600	Weak transcription	Colonic Mucosa	Colon
18	chr1:86092200-86095400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:86092200-86102000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:86092400-86095200	Enhancers	Psoas Muscle	Psoas
21	chr1:86093200-86096000	Enhancers	NHLF	lung
22	chr1:86093200-86098800	Weak transcription	Primary B cells from cord blood	blood
23	chr1:86093200-86102400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr1:86093400-86096000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:86093600-86096000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:86093600-86096000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:86093600-86101200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:86093800-86095400	Weak transcription	Aorta	Aorta
29	chr1:86093800-86095800	Enhancers	HSMMtube	muscle
30	chr1:86094000-86095200	Enhancers	Fetal Stomach	stomach
31	chr1:86094000-86118600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:86094200-86095200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:86094200-86095200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:86094200-86095200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:86094200-86095400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:86094200-86095400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:86094200-86095400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:86094200-86095400	Flanking Active TSS	HepG2	liver
39	chr1:86094200-86095600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:86094200-86095600	Flanking Active TSS	Liver	Liver
41	chr1:86094200-86095600	Enhancers	Fetal Lung	lung
42	chr1:86094200-86096200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:86094400-86095200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:86094400-86095200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:86094400-86095200	Enhancers	Fetal Intestine Large	intestine
46	chr1:86094400-86095200	Enhancers	Placenta	Placenta
47	chr1:86094400-86095200	Enhancers	Left Ventricle	heart
48	chr1:86094400-86095200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr1:86094400-86095200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr1:86094400-86095200	Enhancers	K562	blood

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