Variant report

Variant	rs73063511
Chromosome Location	chr1:184389550-184389551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184354671..184356371-chr1:184388083..184390833,2	MCF-7	breast:
2	chr1:184387289..184390944-chr1:184391179..184396690,9	MCF-7	breast:
3	chr1:184386527..184389872-chr1:184450823..184453922,3	MCF-7	breast:
4	chr1:184381750..184385385-chr1:184386207..184390110,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10494579	1.00[EUR][1000 genomes]
rs10911542	1.00[EUR][1000 genomes]
rs10911543	1.00[EUR][1000 genomes]
rs1111087	1.00[EUR][1000 genomes]
rs12066684	1.00[EUR][1000 genomes]
rs12072264	1.00[EUR][1000 genomes]
rs12076686	1.00[EUR][1000 genomes]
rs12076687	1.00[EUR][1000 genomes]
rs12095050	1.00[EUR][1000 genomes]
rs13328702	1.00[EUR][1000 genomes]
rs13375618	1.00[EUR][1000 genomes]
rs16822757	1.00[EUR][1000 genomes]
rs16822764	1.00[EUR][1000 genomes]
rs16822766	1.00[EUR][1000 genomes]
rs16822783	1.00[EUR][1000 genomes]
rs16822793	1.00[EUR][1000 genomes]
rs16823189	1.00[EUR][1000 genomes]
rs16823192	1.00[EUR][1000 genomes]
rs16823216	1.00[EUR][1000 genomes]
rs1930289	1.00[EUR][1000 genomes]
rs2224030	1.00[EUR][1000 genomes]
rs4354502	1.00[EUR][1000 genomes]
rs4543760	1.00[EUR][1000 genomes]
rs56797986	1.00[EUR][1000 genomes]
rs58307611	1.00[EUR][1000 genomes]
rs59737381	1.00[EUR][1000 genomes]
rs59949779	1.00[EUR][1000 genomes]
rs60807093	1.00[EUR][1000 genomes]
rs6667688	1.00[EUR][1000 genomes]
rs6668105	1.00[EUR][1000 genomes]
rs6669875	1.00[EUR][1000 genomes]
rs6670740	1.00[EUR][1000 genomes]
rs6694683	1.00[EUR][1000 genomes]
rs73046716	1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73059524	1.00[EUR][1000 genomes]
rs73059529	1.00[EUR][1000 genomes]
rs73059544	1.00[EUR][1000 genomes]
rs73063520	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73063529	1.00[EUR][1000 genomes]
rs73063555	1.00[EUR][1000 genomes]
rs74131644	1.00[EUR][1000 genomes]
rs74131649	1.00[EUR][1000 genomes]
rs74131651	1.00[EUR][1000 genomes]
rs74131665	1.00[EUR][1000 genomes]
rs74131666	1.00[EUR][1000 genomes]
rs74131668	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184359600-184391200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:184378000-184395600	Weak transcription	Brain Germinal Matrix	brain
3	chr1:184378200-184402400	Weak transcription	Fetal Lung	lung
4	chr1:184378400-184394200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:184378400-184397400	Weak transcription	Ovary	ovary
6	chr1:184379000-184393000	Weak transcription	Fetal Intestine Large	intestine
7	chr1:184383600-184394200	Weak transcription	Spleen	Spleen
8	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
9	chr1:184384000-184389600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:184384400-184392000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:184384600-184389800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:184385800-184389800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:184385800-184392000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:184386200-184390000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:184386200-184391000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:184386400-184390200	Enhancers	HMEC	breast
17	chr1:184386400-184391200	Weak transcription	Small Intestine	intestine
18	chr1:184386400-184392000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:184386400-184393600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:184386600-184390800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:184386600-184390800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:184386600-184391800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:184386600-184393200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:184386600-184393600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:184387000-184397000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:184387000-184400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:184387200-184390800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:184387200-184397800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:184387200-184403400	Weak transcription	Aorta	Aorta
30	chr1:184387400-184391200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:184387600-184394400	Weak transcription	Lung	lung
32	chr1:184387600-184394600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:184387800-184390000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:184388000-184400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:184388200-184389600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:184388400-184391400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:184388400-184397400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr1:184388600-184391200	Weak transcription	Colonic Mucosa	Colon
39	chr1:184388800-184389600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr1:184388800-184389800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:184388800-184390600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:184389000-184389800	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:184389000-184390400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:184389000-184391000	Weak transcription	Fetal Brain Male	brain
45	chr1:184389000-184395200	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:184389200-184389600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:184389200-184390200	Weak transcription	Left Ventricle	heart
48	chr1:184389200-184390200	Weak transcription	Psoas Muscle	Psoas
49	chr1:184389200-184390400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:184389200-184390800	Weak transcription	H1 Cell Line	embryonic stem cell

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