Variant report

Variant	rs368903051
Chromosome Location	chr5:68389378-68389379
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	MAZ	chr5:68389366-68390658	IMR90	lung:	n/a	chr5:68390281-68390291 chr5:68389826-68389834
2	POLR2A	chr5:68389292-68390933	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr5:68389345-68390699	HepG2	liver:	n/a	n/a
4	MXI1	chr5:68389350-68391040	SK-N-SH	brain:	n/a	n/a
5	FOXM1	chr5:68389353-68390410	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:68389363-68390296	PFSK-1	brain:	n/a	n/a
7	RCOR1	chr5:68389364-68390624	IMR90	lung:	n/a	n/a
8	TCF12	chr5:68389373-68390586	A549	lung:	n/a	n/a
9	SP1	chr5:68389333-68390148	A549	lung:	n/a	chr5:68389698-68389710 chr5:68389695-68389709 chr5:68389698-68389709
10	RFX5	chr5:68389341-68391000	SK-N-SH	brain:	n/a	chr5:68389810-68389819 chr5:68389826-68389842 chr5:68389827-68389841
11	CTCF	chr5:68389351-68390468	SK-N-SH	brain:	n/a	chr5:68389634-68389652
12	PML	chr5:68389361-68390504	GM12878	blood:	n/a	n/a
13	SMC3	chr5:68389347-68390231	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:68388349..68391314-chr5:68786934..68789626,2	MCF-7	breast:
2	chr5:68388171..68390847-chr5:68662913..68666552,4	K562	blood:
3	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:
4	chr5:68387785..68391337-chr5:68461261..68464730,5	K562	blood:
5	chr5:68388226..68392530-chr5:68662317..68667070,8	K562	blood:
6	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
7	chr5:68387450..68391238-chr5:68664593..68668133,5	MCF-7	breast:
8	chr5:68388388..68391466-chr5:68512032..68515267,4	MCF-7	breast:
9	chr5:68337727..68340697-chr5:68388577..68391488,3	MCF-7	breast:
10	chr5:68388464..68391397-chr5:68483791..68487195,4	K562	blood:
11	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:
12	chr5:68388570..68392149-chr5:68396982..68399420,3	MCF-7	breast:
13	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:

Variant related genes	Relation type
SLC30A5	TF binding region
ENSG00000153044	Chromatin interaction
ENSG00000250237	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000197822	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000215006	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv3413325	chr5:68389021-68391569	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68381200-68389400	Weak transcription	HUVEC	blood vessel
2	chr5:68382400-68389800	Weak transcription	Right Atrium	heart
3	chr5:68386200-68389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:68386400-68389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:68386400-68389400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:68386400-68389400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:68387200-68389400	Weak transcription	Liver	Liver
8	chr5:68387200-68389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:68387400-68389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:68387400-68389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:68387400-68389400	Weak transcription	HMEC	breast
12	chr5:68387400-68389400	Enhancers	K562	blood
13	chr5:68387400-68389400	Weak transcription	NH-A	brain
14	chr5:68387400-68389400	Weak transcription	NHEK	skin
15	chr5:68387400-68389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:68387600-68389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:68387600-68389400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:68387600-68389400	Weak transcription	HSMM	muscle
19	chr5:68387600-68389800	Weak transcription	Right Ventricle	heart
20	chr5:68387800-68389400	Weak transcription	HSMMtube	muscle
21	chr5:68388000-68389400	Weak transcription	Osteobl	bone
22	chr5:68388600-68389800	Enhancers	Fetal Heart	heart
23	chr5:68388800-68389400	Enhancers	Hela-S3	cervix
24	chr5:68389000-68389400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:68389000-68389400	Enhancers	A549	lung
26	chr5:68389000-68389800	Enhancers	GM12878-XiMat	blood
27	chr5:68389200-68389400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr5:68389200-68389400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:68389200-68389400	Enhancers	Dnd41	blood
30	chr5:68389200-68389400	Flanking Active TSS	HepG2	liver
31	chr5:68389200-68389600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:68389200-68390200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:68389200-68390400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr5:68389200-68390600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:68389200-68390800	Active TSS	Primary T helper cells PMA-I stimulated	--

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