Variant report

Variant	rs4845700
Chromosome Location	chr1:154981708-154981709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154979360..154982148-chr1:155022145..155024716,3	MCF-7	breast:
2	chr1:154579297..154581310-chr1:154981655..154984036,2	MCF-7	breast:
3	chr1:154980366..154982880-chr1:155006704..155008990,2	K562	blood:
4	chr1:154980366..154984126-chr1:155006704..155010464,3	K562	blood:
5	chr1:154981203..154983632-chr1:155047843..155050809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143537	Chromatin interaction
ENSG00000160710	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11264294	0.84[ASN][1000 genomes]
rs4845402	0.85[CEU][hapmap]

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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
4	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4845700	PIP5K1A	cis	cerebellum	SCAN
rs4845700	LENEP	cis	parietal	SCAN
rs4845700	MTX1	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154976400-154988800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:154976600-154984400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:154977000-154986400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:154977400-154982400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:154977400-154983400	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:154977400-154990000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:154977600-154984000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:154977600-154984400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:154977600-154987200	Weak transcription	Aorta	Aorta
10	chr1:154978000-154981800	Enhancers	Brain Germinal Matrix	brain
11	chr1:154978000-154982200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:154978000-154986200	Enhancers	Pancreas	Pancrea
13	chr1:154978000-154986400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:154978200-154983800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:154978200-154984400	Weak transcription	Fetal Heart	heart
16	chr1:154978600-154982200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:154978600-154982600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:154978600-154989400	Weak transcription	NH-A	brain
19	chr1:154978800-154981800	Enhancers	Brain Substantia Nigra	brain
20	chr1:154978800-154982200	Strong transcription	Fetal Stomach	stomach
21	chr1:154978800-154987200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:154979000-154984400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:154979000-154986800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr1:154979000-154987000	Weak transcription	Osteobl	bone
25	chr1:154979000-154989600	Weak transcription	Fetal Brain Female	brain
26	chr1:154979200-154982600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr1:154979400-154981800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:154979400-154981800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
29	chr1:154979400-154982000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr1:154979400-154984400	Weak transcription	NHDF-Ad	bronchial
31	chr1:154979400-154984600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:154979600-154981800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:154979600-154981800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr1:154979600-154982400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:154979600-154982800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:154979800-154981800	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr1:154979800-154982200	Enhancers	K562	blood
38	chr1:154979800-154982800	Transcr. at gene 5' and 3'	NHEK	skin
39	chr1:154980000-154981800	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr1:154980000-154982000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:154980000-154986600	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:154980000-154986600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:154980000-154986600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr1:154980200-154982800	Weak transcription	Fetal Lung	lung
45	chr1:154980200-154983200	Active TSS	Esophagus	oesophagus
46	chr1:154980200-154985800	Enhancers	Liver	Liver
47	chr1:154980400-154981800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr1:154980400-154981800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr1:154980400-154982400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:154980400-154983000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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