Variant report

Variant	rs73063555
Chromosome Location	chr1:184473857-184473858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184473276..184475558-chr1:184475798..184477583,2	MCF-7	breast:
2	chr1:184461015..184462791-chr1:184472778..184474558,2	MCF-7	breast:
3	chr1:184461404..184463395-chr1:184472896..184475254,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13375618	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]
rs56707979	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	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73046783	1.00[EUR][1000 genomes]
rs73046796	1.00[EUR][1000 genomes]
rs73059544	1.00[EUR][1000 genomes]
rs73063511	1.00[EUR][1000 genomes]
rs73063520	1.00[EUR][1000 genomes]
rs73063529	1.00[EUR][1000 genomes]
rs7413163	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	1.00[EUR][1000 genomes]
rs74134139	1.00[EUR][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	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
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184455200-184482000	Weak transcription	Esophagus	oesophagus
2	chr1:184456400-184502200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:184459600-184483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:184461000-184482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:184461600-184475400	Weak transcription	NHEK	skin
6	chr1:184461600-184476800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:184461600-184479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:184461600-184502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:184463800-184476400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:184464200-184475800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:184464400-184476400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:184464400-184478400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:184467800-184475200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:184468000-184482800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:184469400-184476400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:184469400-184478200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:184471400-184474800	Enhancers	Left Ventricle	heart
18	chr1:184472400-184474200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:184472600-184474000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:184472600-184474200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:184472600-184474200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:184472600-184474200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:184472600-184474200	Enhancers	Fetal Stomach	stomach
24	chr1:184472600-184474400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:184472600-184474400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:184472600-184474400	Enhancers	Fetal Heart	heart
27	chr1:184472600-184474400	Enhancers	Right Ventricle	heart
28	chr1:184472600-184474400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr1:184472800-184474200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:184473000-184474000	Flanking Active TSS	Fetal Brain Female	brain
31	chr1:184473000-184474000	Enhancers	Stomach Mucosa	stomach
32	chr1:184473000-184474200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:184473000-184474200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:184473000-184474200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:184473200-184474000	Active TSS	Brain Substantia Nigra	brain
36	chr1:184473200-184474400	Enhancers	Fetal Lung	lung
37	chr1:184473200-184474400	Enhancers	Ovary	ovary
38	chr1:184473200-184474400	Enhancers	NHLF	lung
39	chr1:184473400-184474000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr1:184473400-184474000	Enhancers	Gastric	stomach
41	chr1:184473400-184474200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:184473400-184474200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:184473400-184474200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr1:184473400-184474200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr1:184473400-184474400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:184473400-184474400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:184473400-184474400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr1:184473600-184474000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:184473600-184474000	Enhancers	HSMM	muscle
50	chr1:184473600-184474200	Enhancers	Brain Hippocampus Middle	brain

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