Variant report

Variant	rs28362776
Chromosome Location	chr14:31354967-31354968
allele	C/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	chr14:31354170-31355380	A549	lung:	n/a	n/a
2	POLR2A	chr14:31354186-31355192	SK-N-MC	brain:	n/a	n/a
3	FOSL2	chr14:31354089-31356539	HepG2	liver:	n/a	chr14:31356258-31356265
4	POLR2A	chr14:31354881-31355565	K562	blood:	n/a	n/a
5	POLR2A	chr14:31354636-31355540	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:31354630-31355377	MCF-7	breast:	n/a	n/a
7	POLR2A	chr14:31351759-31356425	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:31354088-31356121	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:31354216-31363382	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31353521..31355962-chr14:31357677..31359580,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258525	TF binding region
ENSG00000258525	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10047928	1.00[ASN][1000 genomes]
rs12896432	1.00[ASN][1000 genomes]
rs12897108	1.00[ASN][1000 genomes]
rs28572507	1.00[ASN][1000 genomes]
rs34284209	1.00[ASN][1000 genomes]
rs7140925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427204	1.00[ASN][1000 genomes]
rs7145438	1.00[ASN][1000 genomes]
rs7146946	1.00[ASN][1000 genomes]
rs7152503	0.83[AMR][1000 genomes]
rs7153028	1.00[ASN][1000 genomes]
rs7153403	1.00[ASN][1000 genomes]
rs7154605	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31345200-31369200	Weak transcription	Pancreas	Pancrea
3	chr14:31345400-31355200	Weak transcription	Fetal Brain Female	brain
4	chr14:31345400-31363800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:31345400-31382600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:31346000-31358200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:31346200-31362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:31346400-31362600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:31346600-31364200	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:31346600-31382600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:31347000-31355400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:31347000-31384600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:31347200-31362800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:31347600-31355000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:31347600-31363800	Weak transcription	Brain Anterior Caudate	brain
17	chr14:31348000-31372600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:31348200-31376800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:31348600-31360400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:31349200-31362600	Weak transcription	Brain Substantia Nigra	brain
21	chr14:31350000-31355000	Weak transcription	A549	lung
22	chr14:31350200-31363800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:31350200-31377800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:31350400-31363800	Weak transcription	Adipose Nuclei	Adipose
25	chr14:31350800-31363200	Weak transcription	NH-A	brain
26	chr14:31351200-31358200	Weak transcription	HSMM	muscle
27	chr14:31351400-31362600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:31352000-31362000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:31352000-31363800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:31352200-31360200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr14:31352200-31362600	Weak transcription	Osteobl	bone
32	chr14:31352400-31363200	Weak transcription	HMEC	breast
33	chr14:31352600-31364200	Weak transcription	Left Ventricle	heart
34	chr14:31353200-31362000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:31353400-31355200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:31353400-31363800	Weak transcription	Fetal Intestine Large	intestine
37	chr14:31353400-31364200	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:31353400-31367400	Weak transcription	NHLF	lung
39	chr14:31353400-31369200	Weak transcription	Fetal Intestine Small	intestine
40	chr14:31353600-31355600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:31353600-31356000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:31353600-31358200	Weak transcription	GM12878-XiMat	blood
43	chr14:31354000-31355800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:31354200-31355800	Genic enhancers	K562	blood
45	chr14:31354400-31355800	Strong transcription	Brain Germinal Matrix	brain
46	chr14:31354600-31356000	Strong transcription	HepG2	liver

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