Variant report

Variant	rs72480265
Chromosome Location	chr1:161057428-161057429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160989498..160991645-chr1:161056781..161059472,2	MCF-7	breast:
2	chr1:161056990..161060548-chr1:161087703..161089800,3	MCF-7	breast:
3	chr1:161056567..161059211-chr1:161095682..161097348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158769	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000143256	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12401309	0.80[EUR][1000 genomes]
rs4656287	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656288	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4656979	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656981	0.86[ASN][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	esv3351730	chr1:161055728-161059526	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161039600-161066800	Weak transcription	Right Atrium	heart
2	chr1:161050000-161057800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:161052200-161058400	Enhancers	Pancreas	Pancrea
4	chr1:161053200-161059200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:161053400-161058600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:161053600-161058800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:161053600-161063600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:161054200-161058800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:161054600-161057800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:161054600-161057800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr1:161055000-161058400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:161055000-161058400	Weak transcription	Gastric	stomach
13	chr1:161055200-161058400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:161055200-161064600	Weak transcription	Fetal Lung	lung
15	chr1:161055400-161057800	Weak transcription	NHDF-Ad	bronchial
16	chr1:161055400-161058000	Weak transcription	Osteobl	bone
17	chr1:161055400-161058200	Weak transcription	A549	lung
18	chr1:161055400-161058200	Weak transcription	NH-A	brain
19	chr1:161055400-161058200	Weak transcription	NHLF	lung
20	chr1:161055400-161058600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:161055400-161058600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:161055400-161059200	Active TSS	Esophagus	oesophagus
23	chr1:161055400-161061400	Weak transcription	HSMMtube	muscle
24	chr1:161055400-161062000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:161055400-161062400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:161055600-161058200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:161055800-161058000	Weak transcription	HSMM	muscle
28	chr1:161055800-161058400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:161056000-161058400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:161056400-161057600	Weak transcription	HMEC	breast
31	chr1:161056400-161058800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:161056600-161057600	Flanking Active TSS	Stomach Mucosa	stomach
33	chr1:161056600-161057800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:161056600-161058200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:161056600-161058800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:161056600-161058800	Weak transcription	Fetal Intestine Large	intestine
37	chr1:161056800-161058200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:161056800-161058200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:161056800-161058200	Weak transcription	NHEK	skin
40	chr1:161056800-161058600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:161056800-161058600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:161056800-161058600	Weak transcription	Colonic Mucosa	Colon
43	chr1:161056800-161058600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr1:161056800-161059600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:161057000-161058400	Weak transcription	Hela-S3	cervix
46	chr1:161057000-161058800	Weak transcription	Fetal Intestine Small	intestine
47	chr1:161057000-161062400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:161057200-161058600	Weak transcription	Lung	lung
49	chr1:161057200-161059800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:161057400-161058000	Enhancers	Placenta Amnion	Placenta Amnion

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