Variant report

Variant	rs72695153
Chromosome Location	chr1:120185841-120185842
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120161786..120164966-chr1:120184691..120189749,4	K562	blood:
2	chr1:120170976..120174550-chr1:120185288..120189163,4	MCF-7	breast:
3	chr1:120185233..120186994-chr1:120188291..120192117,4	MCF-7	breast:
4	chr1:120179804..120181688-chr1:120184399..120186752,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10923880	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10923881	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068218	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087022	0.86[EUR][1000 genomes]
rs72695150	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription 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	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120163600-120188400	Weak transcription	Hela-S3	cervix
2	chr1:120165800-120189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:120168400-120187000	Weak transcription	K562	blood
4	chr1:120174800-120186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:120175200-120188200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:120175400-120186000	Weak transcription	Aorta	Aorta
7	chr1:120175400-120188000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:120175400-120188200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:120175400-120189200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:120175600-120187800	Weak transcription	HMEC	breast
11	chr1:120175600-120188200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:120175800-120188000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:120176000-120188400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:120176200-120188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:120176800-120186000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:120177000-120188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:120177000-120188400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:120177000-120189000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:120179000-120188400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:120179000-120188400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:120179400-120188400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:120179600-120187800	Weak transcription	NHEK	skin
23	chr1:120179600-120188000	Weak transcription	NH-A	brain
24	chr1:120180000-120188400	Weak transcription	Fetal Kidney	kidney
25	chr1:120180200-120188400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:120180200-120188600	Weak transcription	Fetal Intestine Large	intestine
27	chr1:120180200-120189000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:120180200-120189200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:120180400-120187200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:120180400-120188000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:120181000-120189000	Weak transcription	Fetal Brain Female	brain
32	chr1:120181600-120186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:120181600-120188600	Weak transcription	Lung	lung
34	chr1:120181600-120189200	Weak transcription	Pancreas	Pancrea
35	chr1:120181800-120189000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:120182000-120188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:120182200-120188600	Weak transcription	Gastric	stomach
38	chr1:120182400-120188000	Weak transcription	Adipose Nuclei	Adipose
39	chr1:120182400-120188200	Weak transcription	Placenta	Placenta
40	chr1:120182400-120188400	Weak transcription	Fetal Stomach	stomach
41	chr1:120182600-120186200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:120183400-120188000	Weak transcription	Left Ventricle	heart
43	chr1:120183400-120188200	Weak transcription	Brain Germinal Matrix	brain
44	chr1:120183400-120188400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:120183400-120188600	Weak transcription	Ovary	ovary
46	chr1:120183400-120188600	Weak transcription	Right Atrium	heart
47	chr1:120183400-120188600	Weak transcription	Right Ventricle	heart
48	chr1:120183400-120190200	Weak transcription	Small Intestine	intestine
49	chr1:120183600-120186000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:120183600-120188200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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