Variant report

Variant	rs73063518
Chromosome Location	chr1:184392094-184392095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184387289..184390944-chr1:184391179..184396690,9	MCF-7	breast:
2	chr1:184354551..184358785-chr1:184391255..184395551,10	MCF-7	breast:
3	chr1:184373706..184377617-chr1:184391429..184395529,4	MCF-7	breast:
4	chr1:184384049..184385572-chr1:184391897..184393944,2	K562	blood:

Variant related genes	Relation type
ENSG00000116667	Chromatin interaction
ENSG00000230470	Chromatin interaction
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10489727	1.00[AMR][1000 genomes]
rs16823266	1.00[AMR][1000 genomes]
rs1977144	1.00[AMR][1000 genomes]
rs58369306	1.00[AMR][1000 genomes]
rs61004935	1.00[AMR][1000 genomes]
rs73046716	1.00[AMR][1000 genomes]
rs73061657	1.00[AMR][1000 genomes]
rs73063548	1.00[AMR][1000 genomes]
rs73063553	1.00[AMR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184378000-184395600	Weak transcription	Brain Germinal Matrix	brain
2	chr1:184378200-184402400	Weak transcription	Fetal Lung	lung
3	chr1:184378400-184394200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:184378400-184397400	Weak transcription	Ovary	ovary
5	chr1:184379000-184393000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:184383600-184394200	Weak transcription	Spleen	Spleen
7	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
8	chr1:184386400-184393600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:184386600-184393200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:184386600-184393600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:184387000-184397000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:184387000-184400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:184387200-184397800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:184387200-184403400	Weak transcription	Aorta	Aorta
15	chr1:184387600-184394400	Weak transcription	Lung	lung
16	chr1:184387600-184394600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:184388000-184400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:184388400-184397400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr1:184389000-184395200	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:184389200-184392800	Weak transcription	Placenta	Placenta
21	chr1:184389200-184393800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:184389200-184394600	Weak transcription	Right Ventricle	heart
23	chr1:184389200-184395800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:184389200-184399800	Weak transcription	A549	lung
25	chr1:184389400-184395400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:184389400-184397800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:184389400-184399400	Weak transcription	NHLF	lung
28	chr1:184389600-184394600	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:184389800-184393600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:184390200-184392600	Weak transcription	HMEC	breast
31	chr1:184390400-184392200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:184390600-184393800	Weak transcription	Left Ventricle	heart
33	chr1:184390600-184401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:184390800-184392800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:184391000-184392200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:184391200-184395600	Enhancers	Small Intestine	intestine
38	chr1:184391400-184393600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:184391400-184393600	Enhancers	NHEK	skin
40	chr1:184391400-184394000	Weak transcription	Colonic Mucosa	Colon
41	chr1:184391400-184395400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:184391400-184398000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:184391600-184392200	Active TSS	Rectal Smooth Muscle	rectum
44	chr1:184391600-184393000	Weak transcription	Right Atrium	heart
45	chr1:184391600-184393200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:184391600-184394800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:184391800-184392200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:184391800-184392200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:184391800-184392400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:184391800-184392400	Enhancers	Stomach Mucosa	stomach

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