Variant report

Variant	rs6427572
Chromosome Location	chr1:161013603-161013604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160989087..160991942-chr1:161007144..161014242,6	K562	blood:
2	chr1:161013470..161017562-chr1:161084888..161088962,4	MCF-7	breast:
3	chr1:160989663..160992818-chr1:161011844..161017868,15	MCF-7	breast:
4	chr1:161013542..161018278-chr1:161100825..161104206,7	MCF-7	breast:
5	chr1:161013435..161019346-chr1:161039308..161043996,7	MCF-7	breast:
6	chr1:161012196..161017661-chr1:161066183..161070852,8	MCF-7	breast:
7	chr1:161012288..161019472-chr1:161047717..161055328,13	MCF-7	breast:
8	chr1:161011663..161014033-chr1:161014079..161015803,2	K562	blood:
9	chr1:160988929..160992185-chr1:161012707..161018170,8	MCF-7	breast:
10	chr1:160988071..160992174-chr1:161007125..161014242,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000158773	Chromatin interaction
ENSG00000186517	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000228917	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12036299	0.80[AFR][1000 genomes]
rs1556259	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1556260	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1974140	0.87[EUR][1000 genomes]
rs2073653	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766382	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766383	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57839241	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58318788	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs58974723	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6427573	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6660240	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6686076	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6701822	0.81[AMR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161008800-161014000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:161009000-161014000	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr1:161009400-161014000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:161009800-161013800	Genic enhancers	Dnd41	blood
5	chr1:161010600-161014000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:161010600-161014400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:161012000-161014200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:161012000-161014600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:161012400-161014200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:161012600-161014000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:161012600-161014000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:161012600-161014400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:161012600-161014400	Weak transcription	Ovary	ovary
14	chr1:161012800-161014000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:161012800-161014000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:161012800-161014000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:161012800-161014000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:161012800-161014000	Weak transcription	Left Ventricle	heart
19	chr1:161012800-161014000	Weak transcription	Lung	lung
20	chr1:161012800-161014000	Weak transcription	Right Ventricle	heart
21	chr1:161012800-161014200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:161012800-161014400	Weak transcription	Aorta	Aorta
23	chr1:161012800-161014400	Weak transcription	Esophagus	oesophagus
24	chr1:161013000-161013800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:161013000-161014000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:161013000-161014000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:161013000-161014000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:161013000-161014000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:161013000-161014000	Weak transcription	Liver	Liver
30	chr1:161013000-161014000	Enhancers	Fetal Brain Male	brain
31	chr1:161013000-161014000	Weak transcription	Fetal Heart	heart
32	chr1:161013000-161014000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:161013000-161014000	Weak transcription	HSMMtube	muscle
34	chr1:161013000-161014000	Weak transcription	HUVEC	blood vessel
35	chr1:161013000-161014000	Weak transcription	NHLF	lung
36	chr1:161013000-161014200	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:161013000-161014200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:161013000-161014200	Weak transcription	Stomach Mucosa	stomach
39	chr1:161013200-161013800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:161013200-161013800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:161013200-161013800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:161013200-161013800	Weak transcription	Thymus	Thymus
43	chr1:161013200-161014000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:161013200-161014000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:161013200-161014000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:161013200-161014000	Weak transcription	Primary T cells from cord blood	blood
47	chr1:161013200-161014000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:161013200-161014000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:161013200-161014000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:161013200-161014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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