Variant report

Variant	rs1830224
Chromosome Location	chr7:80353008-80353009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80351533..80354256-chr7:80372076..80374883,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11765496	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11971792	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11982937	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11983746	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12055973	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12056187	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1334522	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527464	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1527465	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534313	0.86[EUR][1000 genomes]
rs16886849	0.85[EUR][1000 genomes]
rs17154337	0.85[EUR][1000 genomes]
rs1880957	0.81[EUR][1000 genomes]
rs1880958	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55810607	0.80[EUR][1000 genomes]
rs6974236	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73370841	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73370844	0.80[EUR][1000 genomes]
rs73386847	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs954409	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs954410	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80348600-80353200	Enhancers	NHDF-Ad	bronchial
2	chr7:80348600-80354000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:80348600-80354800	Enhancers	HSMMtube	muscle
4	chr7:80348600-80356800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:80349600-80355200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:80349600-80355600	Enhancers	NHLF	lung
7	chr7:80349800-80353600	Enhancers	NHEK	skin
8	chr7:80350400-80354600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:80350600-80354800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:80350600-80355800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:80350800-80354000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:80350800-80354000	Enhancers	Adipose Nuclei	Adipose
13	chr7:80350800-80354000	Enhancers	Fetal Intestine Small	intestine
14	chr7:80350800-80354200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:80350800-80354200	Enhancers	HMEC	breast
16	chr7:80350800-80354600	Enhancers	Fetal Intestine Large	intestine
17	chr7:80350800-80354800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:80350800-80354800	Enhancers	Colon Smooth Muscle	Colon
19	chr7:80351000-80354800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:80351000-80354800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:80351000-80355000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:80351000-80355000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:80351200-80354200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:80351200-80354400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:80351200-80354400	Enhancers	Stomach Smooth Muscle	stomach
26	chr7:80351400-80353200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr7:80351400-80354400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr7:80351400-80354400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:80351400-80354800	Enhancers	Fetal Muscle Leg	muscle
30	chr7:80351400-80354800	Enhancers	Fetal Stomach	stomach
31	chr7:80351600-80354800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:80351800-80354000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:80351800-80355400	Enhancers	HSMM	muscle
34	chr7:80352000-80353400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:80352000-80353400	Weak transcription	Aorta	Aorta
36	chr7:80352000-80354800	Enhancers	Osteobl	bone
37	chr7:80352000-80355000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:80352000-80355400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:80352000-80358600	Weak transcription	Psoas Muscle	Psoas
40	chr7:80352200-80353200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:80352200-80353400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:80352200-80353400	Enhancers	Fetal Muscle Trunk	muscle
43	chr7:80352200-80353600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:80352200-80354800	Enhancers	NH-A	brain
45	chr7:80352200-80355000	Enhancers	Hela-S3	cervix
46	chr7:80352400-80353400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:80352400-80353400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:80352400-80353400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:80352400-80353400	Weak transcription	HepG2	liver
50	chr7:80352400-80353800	Weak transcription	H9 Cell Line	embryonic stem cell

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