Variant report

Variant	rs73063553
Chromosome Location	chr1:184466086-184466087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10489727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823266	1.00[AMR][1000 genomes]
rs1977144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58369306	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61004935	1.00[AMR][1000 genomes]
rs73046716	1.00[AMR][1000 genomes]
rs73061657	1.00[AMR][1000 genomes]
rs73063518	1.00[AMR][1000 genomes]
rs73063548	1.00[AMR][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184455200-184482000	Weak transcription	Esophagus	oesophagus
2	chr1:184455800-184466200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:184456400-184502200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:184456600-184472800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:184457400-184468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:184459000-184467000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:184459600-184466200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:184459600-184483000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:184461000-184482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:184461400-184468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:184461600-184466400	Weak transcription	Brain Germinal Matrix	brain
12	chr1:184461600-184470600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:184461600-184472600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:184461600-184475400	Weak transcription	NHEK	skin
15	chr1:184461600-184476800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:184461600-184479000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:184461600-184502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:184461800-184467400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:184462000-184467400	Weak transcription	Osteobl	bone
20	chr1:184462000-184472600	Weak transcription	Fetal Stomach	stomach
21	chr1:184462000-184473200	Weak transcription	NHLF	lung
22	chr1:184462600-184467200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:184462800-184468200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:184463000-184469600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:184463200-184470600	Enhancers	Psoas Muscle	Psoas
26	chr1:184463400-184472400	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:184463600-184466400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:184463600-184467600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:184463600-184467800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:184463600-184470600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:184463800-184466200	Weak transcription	Brain Anterior Caudate	brain
32	chr1:184463800-184467000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:184463800-184468600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:184463800-184476400	Weak transcription	Fetal Intestine Small	intestine
35	chr1:184464200-184468200	Weak transcription	Fetal Heart	heart
36	chr1:184464200-184469200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:184464200-184472400	Weak transcription	Small Intestine	intestine
38	chr1:184464200-184475800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:184464400-184466200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:184464400-184466200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:184464400-184466200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:184464400-184468200	Weak transcription	Right Atrium	heart
43	chr1:184464400-184468800	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:184464400-184469800	Weak transcription	Right Ventricle	heart
45	chr1:184464400-184471200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:184464400-184472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:184464400-184476400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:184464400-184478400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:184465000-184467000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:184465200-184466600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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