Variant report

Variant	rs74118305
Chromosome Location	chr1:153586010-153586011
allele	C/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	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
2	POLR2A	chr1:153584432-153586236	MCF-7	breast:	n/a	n/a
3	CTBP2	chr1:153585398-153586207	H1-hESC	embryonic stem cell:	n/a	n/a
4	GTF2F1	chr1:153585403-153586060	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:153585238-153586329	MCF10A-Er-Src	breast:	n/a	n/a
6	ZKSCAN1	chr1:153585417-153586265	Hela-S3	cervix:	n/a	n/a
7	MAZ	chr1:153584585-153586025	Hela-S3	cervix:	n/a	chr1:153584946-153584956 chr1:153585185-153585195
8	POLR2A	chr1:153585184-153586050	Hela-S3	cervix:	n/a	n/a
9	MAX	chr1:153585127-153586271	A549	lung:	n/a	chr1:153585185-153585195 chr1:153586089-153586098
10	POLR2A	chr1:153585247-153586260	HCT-116	colon:	n/a	n/a
11	MYC	chr1:153585425-153586125	MCF10A-Er-Src	breast:	n/a	chr1:153586089-153586098
12	SMARCC1	chr1:153580778-153586030	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:153584738-153587038	HCT-116	colon:	n/a	n/a
14	RCOR1	chr1:153585364-153586327	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr1:153585321-153586092	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr1:153585330-153586031	Hela-S3	cervix:	n/a	n/a
17	SMARCB1	chr1:153584281-153586054	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:153533881..153554060-chr1:153575339..153590405,58	MCF-7	breast:
2	chr1:153519212..153523090-chr1:153584863..153588698,4	MCF-7	breast:
3	chr1:153584270..153586809-chr1:153629991..153631660,2	MCF-7	breast:
4	chr1:153585070..153587943-chr1:153641105..153643486,2	MCF-7	breast:
5	chr1:153585260..153586066-chr19:58987248..58987941,2	HCT-116	colon:
6	chr1:153358652..153360555-chr1:153585881..153587585,2	MCF-7	breast:
7	chr1:153536449..153542914-chr1:153579157..153590800,34	MCF-7	breast:
8	chr1:153565274..153567952-chr1:153585784..153587305,2	MCF-7	breast:
9	chr1:153505490..153510008-chr1:153584041..153589482,7	MCF-7	breast:

Variant related genes	Relation type
S100A16	TF binding region
ENSG00000143553	Chromatin interaction
ENSG00000196154	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000238279	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000188015	Chromatin interaction
ENSG00000083838	Chromatin interaction
ENSG00000143621	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11486185	0.93[AFR][1000 genomes]
rs28444667	0.93[AFR][1000 genomes]
rs57058331	0.87[AFR][1000 genomes]
rs59005288	0.91[AFR][1000 genomes]
rs61083533	1.00[AFR][1000 genomes]
rs61296485	0.93[AFR][1000 genomes]
rs74115501	0.93[AFR][1000 genomes]
rs74118303	0.93[AFR][1000 genomes]
rs74118304	0.95[AFR][1000 genomes]
rs74118306	0.91[AFR][1000 genomes]
rs74118307	1.00[AFR][1000 genomes]
rs74118314	0.95[AFR][1000 genomes]
rs74118317	0.93[AFR][1000 genomes]
rs74118318	0.82[AFR][1000 genomes]
rs9700870	0.87[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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153582800-153591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:153583000-153589000	Active TSS	Esophagus	oesophagus
3	chr1:153583600-153590000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:153583800-153586200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:153584000-153588600	Weak transcription	K562	blood
6	chr1:153584200-153588600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:153584200-153588800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:153584400-153586200	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:153584600-153587600	Enhancers	Placenta	Placenta
10	chr1:153585000-153589200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:153585200-153586800	Weak transcription	Spleen	Spleen
12	chr1:153585200-153587000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:153585400-153586200	Enhancers	Fetal Heart	heart
14	chr1:153585400-153586200	Flanking Active TSS	HepG2	liver
15	chr1:153585400-153589000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:153585400-153589800	Weak transcription	Brain Substantia Nigra	brain
17	chr1:153585600-153586200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:153585600-153586200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:153585600-153586200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:153585600-153586200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:153585600-153586200	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr1:153585600-153586200	Weak transcription	Small Intestine	intestine
23	chr1:153585600-153586400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:153585600-153586400	Flanking Active TSS	Hela-S3	cervix
25	chr1:153585600-153586800	Enhancers	Pancreas	Pancrea
26	chr1:153585600-153586800	Enhancers	Stomach Mucosa	stomach
27	chr1:153585600-153587200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:153585600-153587400	Enhancers	Colonic Mucosa	Colon
29	chr1:153585600-153587400	Weak transcription	Fetal Thymus	thymus
30	chr1:153585600-153589400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:153585600-153590400	Enhancers	Lung	lung
32	chr1:153585600-153590600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:153585600-153591000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:153585600-153591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:153585600-153591400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:153585600-153592200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:153585600-153596400	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:153585600-153597600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:153585600-153598800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:153585600-153599000	Weak transcription	Aorta	Aorta
41	chr1:153585800-153586200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:153585800-153586200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:153585800-153586200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:153585800-153586200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:153585800-153586200	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr1:153585800-153586200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:153585800-153586200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:153585800-153586200	Flanking Active TSS	A549	lung
49	chr1:153585800-153586200	Flanking Active TSS	NH-A	brain
50	chr1:153585800-153586400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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