Variant report

Variant	rs58110107
Chromosome Location	chr1:223897927-223897928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:223897820-223897970	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:223886668..223890344-chr1:223897746..223900327,3	K562	blood:
2	chr1:223895536..223897944-chr1:223933865..223935699,2	MCF-7	breast:
3	chr1:223897551..223903480-chr1:224031634..224036730,7	K562	blood:
4	chr1:223897059..223902247-chr1:223935403..223939761,6	K562	blood:

Variant related genes	Relation type
CAPN2	TF binding region
ENSG00000143514	Chromatin interaction
ENSG00000162909	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11801247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59002843	0.85[AMR][1000 genomes]
rs73121383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223889000-223900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:223891200-223898600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:223892200-223899800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:223892400-223898400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:223893000-223898800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:223893400-223899600	Weak transcription	Fetal Kidney	kidney
7	chr1:223893800-223898200	Enhancers	Fetal Heart	heart
8	chr1:223894000-223898600	Weak transcription	Fetal Brain Female	brain
9	chr1:223894000-223899800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:223894000-223899800	Enhancers	Fetal Intestine Large	intestine
11	chr1:223894600-223898600	Weak transcription	Brain Germinal Matrix	brain
12	chr1:223894600-223899000	Weak transcription	Fetal Brain Male	brain
13	chr1:223895400-223899400	Weak transcription	Brain Angular Gyrus	brain
14	chr1:223895600-223898800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:223895600-223898800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:223895600-223899000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:223895600-223899000	Weak transcription	Brain Substantia Nigra	brain
18	chr1:223895600-223899400	Weak transcription	Esophagus	oesophagus
19	chr1:223895600-223899600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:223895600-223899600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:223895600-223899800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:223895800-223898000	Enhancers	K562	blood
23	chr1:223895800-223899000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:223895800-223899400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:223895800-223899600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:223895800-223899600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:223895800-223899600	Weak transcription	Brain Anterior Caudate	brain
28	chr1:223895800-223899600	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:223895800-223899600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:223895800-223899600	Weak transcription	Right Ventricle	heart
31	chr1:223895800-223899600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:223896000-223898800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:223896000-223898800	Weak transcription	Fetal Stomach	stomach
34	chr1:223896000-223898800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:223896000-223899000	Enhancers	A549	lung
36	chr1:223896000-223899400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:223896000-223899400	Weak transcription	Pancreas	Pancrea
38	chr1:223896000-223899600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:223896000-223899600	Weak transcription	Aorta	Aorta
40	chr1:223896000-223899600	Weak transcription	Colonic Mucosa	Colon
41	chr1:223896000-223899600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:223896000-223899600	Weak transcription	Ovary	ovary
43	chr1:223896000-223899800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:223896000-223899800	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:223896000-223899800	Weak transcription	Left Ventricle	heart
46	chr1:223896000-223899800	Weak transcription	Psoas Muscle	Psoas
47	chr1:223896000-223900000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:223896000-223900200	Weak transcription	Small Intestine	intestine
49	chr1:223896200-223898800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:223896200-223899600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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