Variant report

Variant	rs73063527
Chromosome Location	chr1:184402214-184402215
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184393745..184397923-chr1:184400425..184402634,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10489723	0.83[EUR][1000 genomes]
rs16823118	0.88[ASN][1000 genomes]
rs16823145	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207524	0.88[ASN][1000 genomes]
rs57336256	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58863963	0.88[ASN][1000 genomes]
rs59158738	0.88[ASN][1000 genomes]
rs59237100	0.88[ASN][1000 genomes]
rs60066136	0.88[ASN][1000 genomes]
rs6424951	0.96[ASN][1000 genomes]
rs6695258	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6698504	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73061677	0.88[ASN][1000 genomes]
rs73061691	0.88[ASN][1000 genomes]
rs73063504	0.88[ASN][1000 genomes]
rs73063508	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063512	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540074	0.81[ASN][1000 genomes]
rs7550032	0.88[ASN][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184378200-184402400	Weak transcription	Fetal Lung	lung
2	chr1:184383800-184412400	Weak transcription	Fetal Stomach	stomach
3	chr1:184387200-184403400	Weak transcription	Aorta	Aorta
4	chr1:184390600-184422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:184392200-184408200	Weak transcription	Esophagus	oesophagus
6	chr1:184395000-184405600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:184395200-184405000	Weak transcription	Fetal Intestine Large	intestine
8	chr1:184395400-184408000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:184395800-184405600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:184396000-184412800	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:184396200-184402400	Weak transcription	Stomach Mucosa	stomach
12	chr1:184396200-184412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:184396200-184418800	Weak transcription	NHEK	skin
14	chr1:184396200-184419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
16	chr1:184396800-184404800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:184398200-184402800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:184398200-184404600	Weak transcription	Lung	lung
19	chr1:184398400-184403400	Weak transcription	Left Ventricle	heart
20	chr1:184398400-184403400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:184398400-184405000	Weak transcription	Right Ventricle	heart
22	chr1:184398400-184405200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:184398400-184410200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:184398600-184411400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:184398800-184403400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:184398800-184418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:184400400-184412800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:184402200-184402400	Enhancers	Pancreas	Pancrea
29	chr1:184402200-184402400	Enhancers	Right Atrium	heart
30	chr1:184402200-184402600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:184402200-184402600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:184402200-184402600	Enhancers	Psoas Muscle	Psoas
33	chr1:184402200-184403000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:184402200-184403400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:184402200-184405600	Enhancers	Skeletal Muscle Male	skeletal muscle

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