Variant report

Variant	rs557624312
Chromosome Location	chr5:68389193-68389194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:68389100-68389250	AG10803	skin:	n/a	n/a
2	CTCF	chr5:68389060-68389210	AG04449	skin:	n/a	n/a
3	CHD2	chr5:68389037-68389221	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

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	chr5:68388570..68392149-chr5:68396982..68399420,3	MCF-7	breast:
12	chr5:68388453..68391488-chr5:68483791..68487092,6	K562	blood:

No data

Variant related genes	Relation type
SLC30A5	TF binding region
ENSG00000153044	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000250237	Chromatin interaction
ENSG00000197822	Chromatin interaction
ENSG00000215006	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000183323	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000085231	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:30 , 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	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:68387400-68389200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:68387400-68389400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:68387400-68389400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:68387400-68389400	Weak transcription	HMEC	breast
14	chr5:68387400-68389400	Enhancers	K562	blood
15	chr5:68387400-68389400	Weak transcription	NH-A	brain
16	chr5:68387400-68389400	Weak transcription	NHEK	skin
17	chr5:68387400-68389800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:68387600-68389200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:68387600-68389400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:68387600-68389400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:68387600-68389400	Weak transcription	HSMM	muscle
22	chr5:68387600-68389800	Weak transcription	Right Ventricle	heart
23	chr5:68387800-68389400	Weak transcription	HSMMtube	muscle
24	chr5:68388000-68389400	Weak transcription	Osteobl	bone
25	chr5:68388600-68389800	Enhancers	Fetal Heart	heart
26	chr5:68388800-68389200	Enhancers	HepG2	liver
27	chr5:68388800-68389400	Enhancers	Hela-S3	cervix
28	chr5:68389000-68389400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:68389000-68389400	Enhancers	A549	lung
30	chr5:68389000-68389800	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links