Variant report

Variant	rs73009950
Chromosome Location	chr1:153573429-153573430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153558024..153561323-chr1:153570462..153573757,5	MCF-7	breast:
2	chr1:153571452..153574148-chr1:153574337..153577646,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11486186	1.00[AMR][1000 genomes]
rs11808118	1.00[AMR][1000 genomes]
rs28574283	1.00[AMR][1000 genomes]
rs34192791	1.00[AMR][1000 genomes]
rs61545193	1.00[AMR][1000 genomes]
rs6682725	1.00[AMR][1000 genomes]
rs73009905	1.00[AMR][1000 genomes]
rs73009929	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73009949	1.00[AMR][1000 genomes]
rs73009952	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73026369	1.00[AMR][1000 genomes]
rs73026373	1.00[AMR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153560400-153580000	Weak transcription	Right Atrium	heart
2	chr1:153561200-153577600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:153565800-153575800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:153565800-153580400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:153565800-153580400	Weak transcription	Fetal Kidney	kidney
6	chr1:153566800-153579200	Weak transcription	Aorta	Aorta
7	chr1:153568800-153574400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:153569600-153578200	Weak transcription	Gastric	stomach
9	chr1:153569800-153577800	Weak transcription	Esophagus	oesophagus
10	chr1:153569800-153577800	Weak transcription	Fetal Intestine Large	intestine
11	chr1:153569800-153577800	Weak transcription	A549	lung
12	chr1:153570200-153574000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:153570400-153579800	Weak transcription	HepG2	liver
14	chr1:153571000-153574600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:153571200-153578200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:153571200-153579000	Weak transcription	Right Ventricle	heart
17	chr1:153571400-153573800	Weak transcription	HMEC	breast
18	chr1:153571400-153577800	Weak transcription	Fetal Stomach	stomach
19	chr1:153571400-153577800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:153571400-153577800	Weak transcription	Hela-S3	cervix
21	chr1:153571400-153578400	Weak transcription	Colonic Mucosa	Colon
22	chr1:153571400-153578400	Weak transcription	Left Ventricle	heart
23	chr1:153571400-153579000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:153571400-153579000	Weak transcription	Lung	lung
25	chr1:153571400-153579000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:153571400-153580000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:153571600-153577800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:153571600-153578400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:153571600-153578800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:153571600-153579200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:153571600-153579400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:153571800-153577600	Weak transcription	Fetal Lung	lung
33	chr1:153572000-153573600	Strong transcription	Fetal Intestine Small	intestine
34	chr1:153572200-153574600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:153572200-153578800	Weak transcription	NH-A	brain
36	chr1:153572200-153579000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:153572400-153573800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:153572400-153573800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:153572400-153574400	Weak transcription	Fetal Thymus	thymus
40	chr1:153572400-153574600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:153572400-153574600	Weak transcription	Thymus	Thymus
42	chr1:153572400-153575000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:153572400-153575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:153572400-153576800	Weak transcription	Osteobl	bone
45	chr1:153572400-153577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:153572400-153577800	Weak transcription	HUVEC	blood vessel
47	chr1:153572400-153578200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:153572400-153578400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:153572400-153578400	Weak transcription	NHEK	skin
50	chr1:153572400-153578600	Weak transcription	Liver	Liver

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