Variant report

Variant	rs74118318
Chromosome Location	chr1:153601413-153601414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153600583-153601986	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:153600455-153601470	K562	blood:	n/a	n/a
3	POLR2A	chr1:153600561-153602432	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:153600484-153601541	K562	blood:	n/a	n/a
5	POLR2A	chr1:153601200-153601439	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF263	chr1:153600868-153601431	K562	blood:	n/a	n/a
7	EBF1	chr1:153601321-153601511	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153599949..153601639-chr1:153935071..153937718,2	MCF-7	breast:
2	chr1:153511330..153514182-chr1:153601360..153604176,2	K562	blood:
3	chr1:153535304..153546939-chr1:153598248..153612195,40	MCF-7	breast:
4	chr1:153599788..153602388-chr1:153699187..153702024,4	MCF-7	breast:
5	chr1:153515275..153518447-chr1:153598676..153601896,4	MCF-7	breast:
6	chr1:153539127..153551919-chr1:153598146..153608314,34	MCF-7	breast:
7	chr1:153508608..153510769-chr1:153600428..153603319,2	K562	blood:
8	chr1:153537634..153542525-chr1:153598837..153602183,9	K562	blood:
9	chr1:153598392..153603036-chr1:153933813..153937554,5	MCF-7	breast:
10	chr1:153599607..153601795-chr12:120727965..120730762,2	MCF-7	breast:

No data

Variant related genes	Relation type
S100A13	TF binding region
ENSG00000143624	Chromatin interaction
ENSG00000196754	Chromatin interaction
ENSG00000196154	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000196420	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[AMR][1000 genomes]
rs28444667	1.00[AMR][1000 genomes]
rs57058331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59005288	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61083533	0.82[AFR][1000 genomes]
rs61296485	1.00[AMR][1000 genomes]
rs74115501	1.00[AMR][1000 genomes]
rs74118303	1.00[AMR][1000 genomes]
rs74118304	1.00[AMR][1000 genomes]
rs74118305	0.82[AFR][1000 genomes]
rs74118306	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118307	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118314	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118316	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74118317	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9700870	0.94[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153598200-153603600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr1:153598600-153601800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:153598800-153602200	Flanking Active TSS	Brain Cingulate Gyrus	brain
4	chr1:153598800-153602400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:153600000-153601600	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:153600000-153601800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:153600000-153602600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:153600000-153602600	Enhancers	Fetal Thymus	thymus
9	chr1:153600000-153603200	Enhancers	Lung	lung
10	chr1:153600000-153604200	Enhancers	Fetal Heart	heart
11	chr1:153600000-153605600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:153600000-153605800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:153600000-153605800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:153600000-153605800	Weak transcription	Thymus	Thymus
15	chr1:153600000-153606600	Weak transcription	Aorta	Aorta
16	chr1:153600200-153601600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:153600200-153602000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:153600200-153602200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:153600200-153602200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:153600200-153602600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:153600200-153602600	Weak transcription	Gastric	stomach
22	chr1:153600200-153603000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:153600200-153603200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:153600200-153603200	Enhancers	Adipose Nuclei	Adipose
25	chr1:153600200-153603400	Weak transcription	Liver	Liver
26	chr1:153600200-153603600	Enhancers	Fetal Stomach	stomach
27	chr1:153600200-153603800	Enhancers	Fetal Muscle Leg	muscle
28	chr1:153600200-153604200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:153600200-153604200	Enhancers	HSMMtube	muscle
30	chr1:153600200-153604400	Enhancers	Placenta	Placenta
31	chr1:153600200-153605800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:153600200-153606000	Enhancers	Fetal Intestine Small	intestine
33	chr1:153600400-153602200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr1:153600400-153602400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:153600400-153602600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr1:153600400-153602800	Weak transcription	Fetal Lung	lung
37	chr1:153600400-153603000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:153600400-153603200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:153600400-153603200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:153600400-153603200	Enhancers	Fetal Muscle Trunk	muscle
41	chr1:153600400-153603600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:153600400-153605800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:153600400-153605800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:153600400-153605800	Weak transcription	HUVEC	blood vessel
45	chr1:153600400-153606000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:153600400-153606000	Weak transcription	Fetal Brain Male	brain
47	chr1:153600400-153606000	Enhancers	Fetal Intestine Large	intestine
48	chr1:153600400-153606400	Weak transcription	Small Intestine	intestine
49	chr1:153600600-153601600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:153600600-153601800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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