Variant report

Variant	rs72722665
Chromosome Location	chr1:85780781-85780782
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	chr1:85780416..85782774-chr1:86045761..86048333,2	MCF-7	breast:
2	chr1:85775211..85778145-chr1:85779507..85781328,2	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11582061	0.89[ASN][1000 genomes]
rs11588128	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12564550	0.92[ASN][1000 genomes]
rs12564698	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12568573	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17127199	0.92[ASN][1000 genomes]
rs2284800	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233101	0.90[EUR][1000 genomes]
rs233102	0.91[EUR][1000 genomes]
rs2935	0.87[ASN][1000 genomes]
rs3813600	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56215900	0.92[ASN][1000 genomes]
rs67644506	0.85[ASN][1000 genomes]
rs72722677	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72724632	0.92[ASN][1000 genomes]
rs7520993	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][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	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85774600-85782400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:85774600-85785200	Weak transcription	Liver	Liver
3	chr1:85774600-85785800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:85774600-85787000	Weak transcription	Fetal Stomach	stomach
5	chr1:85774600-85794800	Weak transcription	Spleen	Spleen
6	chr1:85774800-85782200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:85774800-85782200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:85774800-85784000	Weak transcription	HepG2	liver
9	chr1:85774800-85790400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:85774800-85790600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:85774800-85794200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:85775000-85781400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:85777200-85781400	Weak transcription	Brain Germinal Matrix	brain
14	chr1:85777400-85781600	Enhancers	Osteobl	bone
15	chr1:85777400-85786400	Enhancers	NHLF	lung
16	chr1:85777600-85782400	Enhancers	HUVEC	blood vessel
17	chr1:85777600-85784000	Enhancers	NHDF-Ad	bronchial
18	chr1:85777800-85782800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:85778000-85780800	Weak transcription	Fetal Brain Female	brain
20	chr1:85778200-85790400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:85778400-85785600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:85778600-85782600	Enhancers	HMEC	breast
23	chr1:85778800-85781400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:85778800-85781600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:85778800-85781800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:85778800-85781800	Enhancers	HSMMtube	muscle
27	chr1:85778800-85782400	Enhancers	NH-A	brain
28	chr1:85778800-85786000	Enhancers	NHEK	skin
29	chr1:85778800-85788800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:85778800-85789600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:85779000-85780800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:85779000-85781200	Enhancers	Hela-S3	cervix
33	chr1:85779000-85781600	Enhancers	Fetal Heart	heart
34	chr1:85779000-85781600	Enhancers	HSMM	muscle
35	chr1:85779000-85785600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:85779200-85780800	Enhancers	Fetal Muscle Leg	muscle
37	chr1:85779400-85780800	Enhancers	Colon Smooth Muscle	Colon
38	chr1:85779400-85781000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:85779400-85781400	Enhancers	A549	lung
40	chr1:85779400-85782000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:85779600-85780800	Enhancers	Ovary	ovary
42	chr1:85779600-85781600	Enhancers	Fetal Lung	lung
43	chr1:85779600-85787400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:85779800-85780800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:85779800-85780800	Enhancers	Right Atrium	heart
46	chr1:85779800-85782800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:85780000-85780800	Enhancers	Right Ventricle	heart
48	chr1:85780000-85791800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr1:85780000-85795800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:85780200-85781600	Weak transcription	Placenta	Placenta

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