Variant report

Variant	rs72754911
Chromosome Location	chr1:225954645-225954646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225954078..225956696-chr1:226111952..226114509,2	K562	blood:
2	chr1:225952636..225956677-chr1:225957308..225960710,4	K562	blood:
3	chr1:225950565..225952217-chr1:225954253..225956652,2	K562	blood:
4	chr1:225834091..225845547-chr1:225952149..225961130,23	MCF-7	breast:
5	chr1:225952293..225956105-chr1:225956557..225960824,5	MCF-7	breast:
6	chr1:225946999..225948669-chr1:225953336..225956020,2	MCF-7	breast:
7	chr1:225887126..225890075-chr1:225954364..225956171,2	MCF-7	breast:
8	chr1:225948785..225952549-chr1:225953599..225956527,4	MCF-7	breast:
9	chr1:225947826..225950014-chr1:225953351..225955484,2	K562	blood:
10	chr1:225945507..225952186-chr1:225952608..225958481,10	MCF-7	breast:
11	chr1:225838129..225843793-chr1:225950745..225961465,25	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction
ENSG00000227496	Chromatin interaction
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4653659	0.92[ASN][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	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225943600-225954800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:225946200-225959800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:225946600-225955400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:225949600-225960400	Enhancers	Fetal Muscle Leg	muscle
5	chr1:225950000-225955000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:225950400-225955200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:225950600-225955000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:225950600-225955000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:225950600-225955000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:225950600-225955200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:225950600-225955200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:225950600-225955400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:225950600-225957200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:225950600-225958200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:225950800-225955200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:225951800-225955000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:225951800-225955000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:225952000-225954800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:225952200-225955000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:225952200-225955000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:225952200-225960200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:225952200-225964400	Weak transcription	Fetal Brain Female	brain
23	chr1:225952200-225965600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:225952400-225954800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:225953000-225954800	Weak transcription	GM12878-XiMat	blood
26	chr1:225953000-225956600	Enhancers	Left Ventricle	heart
27	chr1:225953600-225957600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:225953600-225957800	Enhancers	Placenta	Placenta
29	chr1:225953600-225957800	Enhancers	Fetal Thymus	thymus
30	chr1:225953600-225958400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:225953600-225960000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:225953600-225960200	Enhancers	Spleen	Spleen
33	chr1:225953800-225960200	Enhancers	Fetal Muscle Trunk	muscle
34	chr1:225954000-225955000	Enhancers	Rectal Smooth Muscle	rectum
35	chr1:225954000-225955400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr1:225954000-225955600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr1:225954000-225955800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:225954000-225955800	Flanking Active TSS	Fetal Lung	lung
39	chr1:225954000-225956000	Enhancers	Stomach Mucosa	stomach
40	chr1:225954000-225956200	Enhancers	HUVEC	blood vessel
41	chr1:225954000-225956400	Enhancers	Adipose Nuclei	Adipose
42	chr1:225954000-225956600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:225954000-225956800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:225954000-225957000	Enhancers	NH-A	brain
45	chr1:225954000-225957400	Flanking Active TSS	HepG2	liver
46	chr1:225954000-225957400	Enhancers	HMEC	breast
47	chr1:225954000-225957600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:225954000-225960000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:225954200-225954800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:225954200-225954800	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links