Variant report

Variant	rs73128645
Chromosome Location	chr1:223070660-223070661
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	chr1:223070135..223072909-chr1:223075701..223077307,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17163519	1.00[EUR][1000 genomes]
rs2378614	1.00[EUR][1000 genomes]
rs28834670	1.00[EUR][1000 genomes]
rs73126884	1.00[EUR][1000 genomes]
rs73126893	1.00[EUR][1000 genomes]
rs73126902	1.00[EUR][1000 genomes]
rs73128611	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128618	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128632	1.00[EUR][1000 genomes]
rs73128633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128635	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128639	1.00[EUR][1000 genomes]
rs73128643	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73128668	1.00[EUR][1000 genomes]
rs73128682	1.00[EUR][1000 genomes]
rs73128692	1.00[EUR][1000 genomes]
rs73130611	1.00[EUR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223055800-223082800	Weak transcription	Fetal Heart	heart
2	chr1:223060200-223071200	Weak transcription	Ovary	ovary
3	chr1:223065200-223083000	Weak transcription	Aorta	Aorta
4	chr1:223067000-223073000	Weak transcription	Lung	lung
5	chr1:223067200-223077800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:223067400-223072800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:223067600-223071000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:223067800-223071200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:223067800-223072600	Weak transcription	HepG2	liver
10	chr1:223067800-223073000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:223067800-223089400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:223068000-223073000	Weak transcription	Psoas Muscle	Psoas
13	chr1:223068200-223083000	Weak transcription	Fetal Stomach	stomach
14	chr1:223069400-223070800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:223070000-223070800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:223070000-223070800	Enhancers	Osteobl	bone
17	chr1:223070000-223071000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:223070000-223071000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr1:223070000-223071000	Enhancers	NHEK	skin
20	chr1:223070000-223071200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:223070000-223071800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:223070200-223070800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:223070200-223070800	Enhancers	HUVEC	blood vessel
24	chr1:223070200-223071000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:223070200-223071000	Enhancers	Adipose Nuclei	Adipose
26	chr1:223070200-223071000	Enhancers	Fetal Lung	lung
27	chr1:223070200-223071400	Enhancers	Fetal Kidney	kidney
28	chr1:223070200-223071600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:223070200-223071600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr1:223070400-223070800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:223070400-223070800	Enhancers	Primary T cells from cord blood	blood
32	chr1:223070400-223070800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:223070400-223070800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr1:223070400-223071600	Flanking Active TSS	Dnd41	blood
35	chr1:223070400-223071800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:223070600-223070800	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:223070600-223070800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:223070600-223070800	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr1:223070600-223070800	Enhancers	Small Intestine	intestine
40	chr1:223070600-223070800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr1:223070600-223070800	Weak transcription	NHLF	lung
42	chr1:223070600-223071000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr1:223070600-223071000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:223070600-223071000	Enhancers	HSMM	muscle
45	chr1:223070600-223071400	Active TSS	Muscle Satellite Cultured Cells	--
46	chr1:223070600-223071600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:223070600-223071600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:223070600-223071600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:223070600-223071600	Enhancers	Hela-S3	cervix
50	chr1:223070600-223071800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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