Variant report

Variant	rs672819
Chromosome Location	chr1:210436404-210436405
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:210430018..210432392-chr1:210435248..210436985,2	MCF-7	breast:
2	chr1:210436042..210438392-chr1:210545495..210547310,2	MCF-7	breast:
3	chr1:210424408..210427087-chr1:210436244..210439135,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10489391	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10863818	0.87[EUR][1000 genomes]
rs11119455	0.87[EUR][1000 genomes]
rs12030512	0.83[AFR][1000 genomes]
rs12030856	0.83[AFR][1000 genomes]
rs12034871	0.83[AFR][1000 genomes]
rs12040684	0.83[AFR][1000 genomes]
rs1774107	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4844987	0.87[EUR][1000 genomes]
rs4844989	0.83[AFR][1000 genomes]
rs4844996	0.83[AFR][1000 genomes]
rs60154123	0.83[AFR][1000 genomes]
rs614167	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs628908	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs634601	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs646512	0.80[EUR][1000 genomes]
rs650728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664072	0.84[EUR][1000 genomes]
rs664097	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs701941	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs701942	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs701943	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs701944	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs815358	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs845452	0.84[EUR][1000 genomes]
rs845455	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210428200-210439600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:210430600-210439200	Enhancers	Fetal Stomach	stomach
3	chr1:210430800-210439600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:210431600-210438200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:210433600-210438000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:210433600-210439400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:210433800-210438000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:210433800-210440200	Enhancers	NHDF-Ad	bronchial
9	chr1:210433800-210445400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:210434000-210438400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:210434400-210436600	Enhancers	Fetal Muscle Trunk	muscle
12	chr1:210434400-210439600	Enhancers	Colon Smooth Muscle	Colon
13	chr1:210434600-210439000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:210434800-210436600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:210435000-210436600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:210435000-210436800	Enhancers	HMEC	breast
17	chr1:210435000-210437200	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:210435000-210437200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:210435000-210437600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:210435000-210438800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:210435000-210439200	Enhancers	HSMMtube	muscle
22	chr1:210435200-210436600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:210435200-210436600	Enhancers	Ovary	ovary
24	chr1:210435200-210436800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:210435200-210437200	Enhancers	Aorta	Aorta
26	chr1:210435400-210436600	Enhancers	Brain Anterior Caudate	brain
27	chr1:210435400-210436600	Enhancers	HSMM	muscle
28	chr1:210435400-210436800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:210435400-210436800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr1:210435600-210436600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:210435600-210438000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:210435800-210438200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:210436000-210436600	Flanking Active TSS	Osteobl	bone
34	chr1:210436200-210436600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:210436200-210436600	Enhancers	Fetal Heart	heart
36	chr1:210436200-210436600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr1:210436200-210436600	Flanking Active TSS	NH-A	brain
38	chr1:210436200-210436600	Flanking Active TSS	NHLF	lung
39	chr1:210436200-210436800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:210436200-210436800	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:210436400-210436600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:210436400-210437000	Enhancers	Fetal Lung	lung
43	chr1:210436400-210438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:210436400-210438400	Weak transcription	Stomach Mucosa	stomach
45	chr1:210436400-210445800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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