Variant report

Variant	rs74118303
Chromosome Location	chr1:153584704-153584705
allele	A/T
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	POLR2A	chr1:153578781-153585928	U87	brain:	n/a	n/a
2	POLR2A	chr1:153580416-153585950	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr1:153583230-153586398	IMR90	lung:	n/a	chr1:153583503-153583514 chr1:153584946-153584956 chr1:153583503-153583514 chr1:153583499-153583518 chr1:153583504-153583513 chr1:153583504-153583514 chr1:153583502-153583515 chr1:153583503-153583512 chr1:153583503-153583514 chr1:153585185-153585195 chr1:153583502-153583515 chr1:153584570-153584580 chr1:153583504-153583514 chr1:153583502-153583515 chr1:153583503-153583514 chr1:153586089-153586098
4	POLR2A	chr1:153584432-153586236	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:153584558-153584937	U87	brain:	n/a	n/a
6	POLR2A	chr1:153584678-153584936	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr1:153584673-153584990	MCF10A-Er-Src	breast:	n/a	n/a
8	MAFK	chr1:153583889-153584861	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr1:153584658-153585059	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr1:153584098-153585176	Hela-S3	cervix:	n/a	n/a
11	MAZ	chr1:153584585-153586025	Hela-S3	cervix:	n/a	chr1:153584946-153584956 chr1:153585185-153585195
12	POLR2A	chr1:153584590-153584793	A549	lung:	n/a	n/a
13	SMC3	chr1:153584650-153585977	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:153583704-153585183	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:153584631-153585698	HepG2	liver:	n/a	n/a
16	MAX	chr1:153582564-153584929	A549	lung:	n/a	chr1:153583503-153583514 chr1:153583503-153583514 chr1:153583499-153583518 chr1:153583504-153583513 chr1:153583504-153583514 chr1:153583502-153583515 chr1:153583503-153583512 chr1:153583503-153583514 chr1:153583502-153583515 chr1:153584570-153584580 chr1:153583504-153583514 chr1:153583502-153583515 chr1:153583503-153583514
17	SMARCC1	chr1:153580778-153586030	Hela-S3	cervix:	n/a	n/a
18	RCOR1	chr1:153584620-153584789	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr1:153579147-153585872	U87	brain:	n/a	n/a
20	POLR2A	chr1:153584655-153584917	MCF10A-Er-Src	breast:	n/a	n/a
21	SMARCB1	chr1:153584281-153586054	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153580618..153585586-chr1:153936399..153942199,7	MCF-7	breast:
2	chr1:153505889..153508485-chr1:153582874..153585873,3	MCF-7	breast:
3	chr1:153361209..153363367-chr1:153582574..153585428,2	MCF-7	breast:
4	chr1:153533881..153554060-chr1:153575339..153590405,58	MCF-7	breast:
5	chr1:153518244..153520896-chr1:153581745..153584776,3	MCF-7	breast:
6	chr1:153584203..153584864-chr16:30076780..30077582,2	Hela-S3	cervix:
7	chr1:153329994..153332051-chr1:153582439..153585039,2	MCF-7	breast:
8	chr1:153584270..153586809-chr1:153629991..153631660,2	MCF-7	breast:
9	chr1:153536449..153542914-chr1:153579157..153590800,34	MCF-7	breast:
10	chr1:153524896..153526956-chr1:153582984..153585542,2	MCF-7	breast:
11	chr1:153325873..153327403-chr1:153582234..153585086,2	MCF-7	breast:
12	chr1:153505490..153510008-chr1:153584041..153589482,7	MCF-7	breast:

Variant related genes	Relation type
S100A16	TF binding region
ENSG00000196154	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000163220	Chromatin interaction
ENSG00000143553	Chromatin interaction
ENSG00000238279	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000143570	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11486185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28444667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57058331	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59005288	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61083533	0.93[AFR][1000 genomes]
rs61296485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118304	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118305	0.93[AFR][1000 genomes]
rs74118306	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118307	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118314	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118316	1.00[AMR][1000 genomes]
rs74118317	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118318	1.00[AMR][1000 genomes]
rs9700870	0.81[AFR][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	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153578800-153584800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:153580200-153584800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:153581400-153584800	Enhancers	Fetal Heart	heart
4	chr1:153582200-153585000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:153582200-153585200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:153582800-153585600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:153582800-153591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:153583000-153589000	Active TSS	Esophagus	oesophagus
9	chr1:153583200-153585600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr1:153583200-153585600	Active TSS	HSMM	muscle
11	chr1:153583200-153585800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:153583200-153585800	Active TSS	HMEC	breast
13	chr1:153583200-153585800	Active TSS	NHLF	lung
14	chr1:153583200-153586000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:153583600-153584800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:153583600-153585600	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr1:153583600-153585800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:153583600-153585800	Active TSS	A549	lung
19	chr1:153583600-153590000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:153583800-153584800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr1:153583800-153585200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:153583800-153585200	Transcr. at gene 5' and 3'	NHEK	skin
23	chr1:153583800-153585400	Active TSS	Brain Substantia Nigra	brain
24	chr1:153583800-153585600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:153583800-153585600	Active TSS	Brain Hippocampus Middle	brain
26	chr1:153583800-153586200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:153584000-153584800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:153584000-153584800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:153584000-153584800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:153584000-153584800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:153584000-153585000	Active TSS	Brain Angular Gyrus	brain
32	chr1:153584000-153585000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
33	chr1:153584000-153585000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:153584000-153585000	Flanking Active TSS	HepG2	liver
35	chr1:153584000-153585200	Active TSS	Colonic Mucosa	Colon
36	chr1:153584000-153585600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:153584000-153585600	Active TSS	Brain Anterior Caudate	brain
38	chr1:153584000-153585600	Active TSS	Brain Cingulate Gyrus	brain
39	chr1:153584000-153585800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:153584000-153585800	Active TSS	Ovary	ovary
41	chr1:153584000-153585800	Active TSS	NHDF-Ad	bronchial
42	chr1:153584000-153588600	Weak transcription	K562	blood
43	chr1:153584200-153584800	Flanking Active TSS	Fetal Stomach	stomach
44	chr1:153584200-153584800	Flanking Active TSS	Pancreas	Pancrea
45	chr1:153584200-153585000	Flanking Active TSS	Liver	Liver
46	chr1:153584200-153585000	Flanking Active TSS	Right Ventricle	heart
47	chr1:153584200-153585400	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:153584200-153585600	Active TSS	Aorta	Aorta
49	chr1:153584200-153585600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:153584200-153585600	Active TSS	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links