Variant report

Variant	rs74112509
Chromosome Location	chr1:119681602-119681603
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	IRF1	chr1:119681547-119681637	K562	blood:	n/a	n/a
2	ZNF384	chr1:119681549-119681619	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:119681440-119681732	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119673762..119681636-chr1:119681760..119684785,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231365	TF binding region
ENSG00000231365	Chromatin interaction
ENSG00000116874	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17023092	1.00[AMR][1000 genomes]
rs17023108	1.00[AMR][1000 genomes]
rs17023118	1.00[AMR][1000 genomes]
rs17023129	1.00[AMR][1000 genomes]
rs17023211	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023317	1.00[AMR][1000 genomes]
rs17023323	1.00[AMR][1000 genomes]
rs56083438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57667302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60375409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112264	1.00[AMR][1000 genomes]
rs74112272	1.00[AMR][1000 genomes]
rs74112284	1.00[AMR][1000 genomes]
rs74112511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114807	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74114822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
4	nsv831192	chr1:119671172-119843226	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119646000-119682400	Weak transcription	Ovary	ovary
2	chr1:119656000-119682000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:119657600-119682000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:119658400-119682000	Weak transcription	Hela-S3	cervix
5	chr1:119658800-119682200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:119660200-119682400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:119660400-119682000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:119665000-119682200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:119665000-119682200	Weak transcription	Thymus	Thymus
10	chr1:119665200-119682200	Weak transcription	Left Ventricle	heart
11	chr1:119665400-119682000	Weak transcription	Primary T cells from cord blood	blood
12	chr1:119668800-119682200	Weak transcription	Psoas Muscle	Psoas
13	chr1:119671400-119682000	Weak transcription	Fetal Stomach	stomach
14	chr1:119672200-119682000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:119672200-119682000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:119672200-119682000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:119672800-119682000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:119674400-119682000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:119675800-119682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:119677200-119682000	Weak transcription	A549	lung
21	chr1:119677400-119682000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:119677600-119682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:119678000-119681800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:119678000-119682000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:119678000-119682000	Weak transcription	HSMMtube	muscle
26	chr1:119678200-119682000	Weak transcription	K562	blood
27	chr1:119679000-119682200	Weak transcription	Fetal Brain Male	brain
28	chr1:119679200-119682000	Weak transcription	Osteobl	bone
29	chr1:119679400-119682000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:119679400-119682000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:119679400-119682000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:119679400-119682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:119679400-119682000	Weak transcription	HSMM	muscle
34	chr1:119679400-119682000	Weak transcription	NH-A	brain
35	chr1:119679400-119682200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:119679600-119682000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:119679600-119682000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:119679600-119682000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:119679600-119682000	Weak transcription	Adipose Nuclei	Adipose
40	chr1:119679600-119682000	Weak transcription	Fetal Heart	heart
41	chr1:119679600-119682000	Weak transcription	NHDF-Ad	bronchial
42	chr1:119679600-119682000	Weak transcription	NHLF	lung
43	chr1:119679800-119682000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:119679800-119682000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:119679800-119682000	Weak transcription	HMEC	breast
46	chr1:119679800-119682000	Weak transcription	NHEK	skin
47	chr1:119680200-119682000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:119680600-119682000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:119680800-119682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:119681000-119682000	Enhancers	Dnd41	blood

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