Variant report

Variant	rs532287141
Chromosome Location	chr5:79949595-79949596
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	POLR2A	chr5:79949416-79951701	Hela-S3	cervix:	n/a	n/a
2	SIN3A	chr5:79949104-79951221	H1-hESC	embryonic stem cell:	n/a	chr5:79950816-79950827 chr5:79949531-79949539
3	GATA2	chr5:79949305-79949761	K562	blood:	n/a	chr5:79949511-79949532 chr5:79949518-79949525 chr5:79949517-79949527 chr5:79949515-79949525 chr5:79949518-79949527
4	GATA1	chr5:79949456-79949675	PBDEFetal	blood:	n/a	chr5:79949511-79949532 chr5:79949518-79949525 chr5:79949517-79949527 chr5:79949515-79949525 chr5:79949518-79949527
5	POLR2A	chr5:79948603-79951714	GM12878	blood:	n/a	n/a
6	ZNF143	chr5:79949425-79949630	K562	blood:	n/a	n/a
7	CCNT2	chr5:79949448-79951322	K562	blood:	n/a	chr5:79950385-79950394 chr5:79950824-79950833 chr5:79950816-79950825
8	HMGN3	chr5:79949410-79949640	K562	blood:	n/a	n/a
9	POLR2A	chr5:79949192-79951540	K562	blood:	n/a	n/a
10	TEAD4	chr5:79949317-79949954	K562	blood:	n/a	n/a
11	TAL1	chr5:79949235-79949955	K562	blood:	n/a	n/a
12	POLR2A	chr5:79949470-79951611	MCF10A-Er-Src	breast:	n/a	n/a
13	MXI1	chr5:79949415-79950055	K562	blood:	n/a	n/a
14	POLR2A	chr5:79949567-79949626	K562	blood:	n/a	n/a
15	RCOR1	chr5:79949358-79949719	K562	blood:	n/a	n/a
16	TBL1XR1	chr5:79949352-79949678	K562	blood:	n/a	n/a
17	GATA1	chr5:79949269-79950195	PBDE	blood:	n/a	chr5:79949511-79949532 chr5:79949518-79949525 chr5:79949517-79949527 chr5:79949515-79949525 chr5:79949518-79949527
18	ZMIZ1	chr5:79949346-79949933	K562	blood:	n/a	n/a
19	RCOR1	chr5:79949489-79949628	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr5:79949099-79952397	GM12891	blood:	n/a	n/a
21	BHLHE40	chr5:79949407-79949795	K562	blood:	n/a	n/a
22	PML	chr5:79949354-79949775	K562	blood:	n/a	n/a
23	RCOR1	chr5:79949236-79949672	K562	blood:	n/a	n/a
24	TBP	chr5:79949385-79951317	K562	blood:	n/a	n/a
25	POLR2A	chr5:79949356-79951526	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr5:79948945-79949761	K562	blood:	n/a	n/a
27	EP300	chr5:79949328-79949902	K562	blood:	n/a	n/a
28	MAZ	chr5:79949455-79949716	K562	blood:	n/a	n/a
29	JUND	chr5:79949393-79949628	K562	blood:	n/a	n/a
30	MYC	chr5:79949251-79951471	K562	blood:	n/a	n/a
31	POLR2A	chr5:79949502-79949716	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZNF263	chr5:79949178-79950765	HEK293-T-REx	kidney:	n/a	n/a
33	POLR2A	chr5:79949187-79949671	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr5:79949093-79951774	K562	blood:	n/a	n/a
35	E2F4	chr5:79949432-79951202	MCF10A-Er-Src	breast:	n/a	chr5:79950363-79950371 chr5:79950516-79950526 chr5:79950368-79950375 chr5:79950852-79950861 chr5:79950367-79950376 chr5:79950368-79950375 chr5:79950824-79950833 chr5:79950368-79950375 chr5:79950385-79950394
36	POLR2A	chr5:79949383-79949680	K562	blood:	n/a	n/a
37	POLR2A	chr5:79949366-79951545	PBDE	blood:	n/a	n/a
38	POLR2A	chr5:79949280-79951466	H1-hESC	embryonic stem cell:	n/a	n/a
39	TBL1XR1	chr5:79949497-79949964	K562	blood:	n/a	n/a
40	MAX	chr5:79949366-79949718	K562	blood:	n/a	n/a
41	TEAD4	chr5:79949229-79949812	K562	blood:	n/a	n/a
42	MAX	chr5:79949400-79949637	K562	blood:	n/a	n/a
43	POLR2A	chr5:79949504-79951439	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:79781713..79786255-chr5:79948613..79954295,12	MCF-7	breast:
2	chr5:79782822..79786705-chr5:79948261..79952248,11	MCF-7	breast:
3	chr5:79918045..79920951-chr5:79949482..79951097,2	MCF-7	breast:
4	chr5:79702114..79706204-chr5:79947823..79953616,8	MCF-7	breast:

Variant related genes	Relation type
MSH3	TF binding region
MTRNR2L2	TF binding region
ENSG00000251221	Chromatin interaction
ENSG00000249042	Chromatin interaction
ENSG00000039319	Chromatin interaction
ENSG00000152380	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3406922	chr5:79949421-79951969	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79919600-79949800	Weak transcription	Pancreas	Pancrea
2	chr5:79923600-79949800	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:79924200-79949800	Weak transcription	Left Ventricle	heart
4	chr5:79925600-79949600	Weak transcription	HSMMtube	muscle
5	chr5:79929000-79949800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:79934200-79949600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:79937000-79950000	Weak transcription	Ovary	ovary
8	chr5:79937800-79949800	Weak transcription	Lung	lung
9	chr5:79937800-79949800	Weak transcription	Psoas Muscle	Psoas
10	chr5:79944800-79949600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:79945600-79949800	Weak transcription	Brain Substantia Nigra	brain
12	chr5:79948600-79949600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr5:79948600-79950200	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr5:79948600-79951200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:79948600-79952000	Active TSS	GM12878-XiMat	blood
16	chr5:79948800-79949600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:79948800-79949800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:79948800-79951400	Active TSS	Fetal Intestine Large	intestine
19	chr5:79949000-79949600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:79949000-79949600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:79949000-79949600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:79949000-79949600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr5:79949000-79949600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr5:79949000-79949600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr5:79949000-79949600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:79949000-79949600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:79949000-79949600	Enhancers	Adipose Nuclei	Adipose
28	chr5:79949000-79949600	Flanking Active TSS	Hela-S3	cervix
29	chr5:79949000-79949600	Flanking Active TSS	HMEC	breast
30	chr5:79949000-79949600	Flanking Active TSS	K562	blood
31	chr5:79949000-79949800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:79949000-79949800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:79949000-79949800	Flanking Active TSS	NHEK	skin
34	chr5:79949000-79950000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:79949000-79950000	Enhancers	Spleen	Spleen
36	chr5:79949000-79950200	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr5:79949000-79950200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:79949000-79950200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:79949000-79950200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:79949000-79950200	Flanking Active TSS	Liver	Liver
41	chr5:79949000-79950200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr5:79949000-79950200	Flanking Active TSS	HUVEC	blood vessel
43	chr5:79949000-79951200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:79949000-79951200	Active TSS	Stomach Mucosa	stomach
45	chr5:79949000-79951400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr5:79949000-79951400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr5:79949000-79951400	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr5:79949000-79951400	Active TSS	Fetal Intestine Small	intestine
49	chr5:79949000-79951600	Active TSS	A549	lung
50	chr5:79949200-79949600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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