Variant report

Variant	rs73063520
Chromosome Location	chr1:184394758-184394759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184393745..184397923-chr1:184400425..184402634,3	MCF-7	breast:
2	chr1:184387289..184390944-chr1:184391179..184396690,9	MCF-7	breast:
3	chr1:184354551..184358785-chr1:184391255..184395551,10	MCF-7	breast:
4	chr1:184373706..184377617-chr1:184391429..184395529,4	MCF-7	breast:
5	chr1:184393387..184395383-chr1:184453668..184456312,2	K562	blood:
6	chr1:184379414..184382005-chr1:184392541..184395797,4	MCF-7	breast:

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

Extended variants
information (count: 49 )
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]
rs73063511	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:59 , 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	chr1:184378400-184397400	Weak transcription	Ovary	ovary
4	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
5	chr1:184387000-184397000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:184387000-184400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:184387200-184397800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:184387200-184403400	Weak transcription	Aorta	Aorta
9	chr1:184388000-184400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:184388400-184397400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:184389000-184395200	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:184389200-184395800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:184389200-184399800	Weak transcription	A549	lung
14	chr1:184389400-184395400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:184389400-184397800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:184389400-184399400	Weak transcription	NHLF	lung
17	chr1:184390600-184401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:184391200-184395600	Enhancers	Small Intestine	intestine
20	chr1:184391400-184395400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:184391400-184398000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:184391600-184394800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:184391800-184394800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:184391800-184395000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:184391800-184395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:184391800-184395200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:184391800-184395800	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:184391800-184396200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:184392000-184395200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:184392200-184395400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:184392200-184395600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:184392200-184396200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr1:184392200-184408200	Weak transcription	Esophagus	oesophagus
34	chr1:184392400-184398200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:184393000-184395200	Enhancers	Fetal Intestine Large	intestine
36	chr1:184393200-184395600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:184393400-184395000	Enhancers	Placenta	Placenta
38	chr1:184393400-184395800	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr1:184393400-184396200	Enhancers	Stomach Mucosa	stomach
40	chr1:184393400-184397200	Enhancers	Psoas Muscle	Psoas
41	chr1:184393600-184395600	Enhancers	Right Atrium	heart
42	chr1:184393600-184395800	Flanking Active TSS	NHEK	skin
43	chr1:184393600-184397000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:184393800-184395000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:184393800-184395600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:184393800-184396000	Enhancers	Left Ventricle	heart
47	chr1:184393800-184397200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:184394000-184395000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:184394000-184395000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:184394000-184395800	Enhancers	Colonic Mucosa	Colon

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