Variant report

Variant	rs73080522
Chromosome Location	chr1:212407480-212407481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212406214..212407731-chr1:212435193..212437929,2	K562	blood:
2	chr1:212404851..212407731-chr1:212434475..212437929,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11800208	0.81[AMR][1000 genomes]
rs17018717	0.81[AMR][1000 genomes]
rs17018767	0.81[AMR][1000 genomes]
rs17018792	0.81[AMR][1000 genomes]
rs1873299	0.81[AMR][1000 genomes]
rs1908141	0.81[AMR][1000 genomes]
rs4369290	0.81[AMR][1000 genomes]
rs56410034	0.81[AMR][1000 genomes]
rs57461449	0.81[AMR][1000 genomes]
rs58031667	0.81[AMR][1000 genomes]
rs58388470	0.81[AMR][1000 genomes]
rs59665922	0.81[AMR][1000 genomes]
rs6701982	1.00[AMR][1000 genomes]
rs73078504	0.81[AMR][1000 genomes]
rs73078520	0.81[AMR][1000 genomes]
rs73078526	0.81[AMR][1000 genomes]
rs73078531	0.91[AMR][1000 genomes]
rs73078536	0.81[AMR][1000 genomes]
rs74138110	0.81[AMR][1000 genomes]
rs7530958	0.81[AMR][1000 genomes]
rs7534621	0.81[AMR][1000 genomes]
rs7536393	0.81[AMR][1000 genomes]
rs7536704	0.81[AMR][1000 genomes]
rs884208	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212399800-212407800	Weak transcription	Brain Anterior Caudate	brain
2	chr1:212400000-212407600	Weak transcription	Spleen	Spleen
3	chr1:212400000-212407800	Weak transcription	Right Atrium	heart
4	chr1:212400000-212407800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:212401400-212408400	Weak transcription	Lung	lung
6	chr1:212401800-212409000	Weak transcription	Gastric	stomach
7	chr1:212402400-212407800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:212403400-212409000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:212403600-212407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:212403600-212408200	Weak transcription	Small Intestine	intestine
11	chr1:212403600-212409600	Weak transcription	Liver	Liver
12	chr1:212403800-212407600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:212403800-212407600	Weak transcription	NHDF-Ad	bronchial
14	chr1:212403800-212407600	Weak transcription	Osteobl	bone
15	chr1:212404600-212407800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:212404800-212410800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:212405200-212407600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:212405200-212408800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:212405200-212410600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:212405600-212407600	Weak transcription	Psoas Muscle	Psoas
21	chr1:212405600-212408600	Weak transcription	Pancreas	Pancrea
22	chr1:212405600-212409000	Weak transcription	Esophagus	oesophagus
23	chr1:212405600-212414800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:212405600-212416400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:212405800-212407800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:212405800-212408000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:212406000-212407800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:212406400-212407600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:212406400-212408000	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:212406400-212411000	Enhancers	HSMMtube	muscle
31	chr1:212406600-212409200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:212406600-212410800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:212406800-212407600	Enhancers	K562	blood
34	chr1:212406800-212407800	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:212406800-212408600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:212406800-212408600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:212406800-212408800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:212406800-212409800	Enhancers	Fetal Muscle Leg	muscle
39	chr1:212406800-212410400	Enhancers	HSMM	muscle
40	chr1:212406800-212410600	Enhancers	Stomach Mucosa	stomach
41	chr1:212407000-212407800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:212407000-212408000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:212407000-212409200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:212407200-212407600	Enhancers	Fetal Heart	heart
45	chr1:212407200-212407600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:212407200-212410400	Enhancers	Left Ventricle	heart
47	chr1:212407400-212407800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr1:212407400-212407800	Weak transcription	Right Ventricle	heart
49	chr1:212407400-212408600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:212407400-212408600	Enhancers	GM12878-XiMat	blood

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