Variant report

Variant	rs551737474
Chromosome Location	chr5:68630009-68630010
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68629384-68630041	GM12892	blood:	n/a	n/a
2	POLR2A	chr5:68629436-68630034	GM12892	blood:	n/a	n/a
3	POLR2A	chr5:68629535-68630059	A549	lung:	n/a	n/a
4	HEY1	chr5:68630007-68630199	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68628802..68630677-chr5:68662896..68664873,2	K562	blood:
2	chr5:68628027..68630302-chr5:68663373..68666765,3	K562	blood:
3	chr5:68626792..68633026-chr5:68660168..68667090,13	MCF-7	breast:
4	chr5:68626462..68633259-chr5:68656360..68665608,14	MCF-7	breast:
5	chr5:68625780..68629489-chr5:68629805..68632060,4	MCF-7	breast:
6	chr5:68513358..68515252-chr5:68629266..68631706,2	K562	blood:
7	chr5:68628511..68630857-chr5:68714273..68716319,2	MCF-7	breast:
8	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC125	TF binding region
ENSG00000183323	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000152939	Chromatin interaction
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv969960	chr5:68613678-68646127	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv968922	chr5:68628679-68631659	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68628800-68649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:68629000-68630400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:68629000-68630400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:68629000-68630400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:68629000-68630400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:68629000-68630400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:68629000-68630400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:68629000-68630400	Weak transcription	Brain Anterior Caudate	brain
9	chr5:68629000-68630400	Weak transcription	Brain Germinal Matrix	brain
10	chr5:68629000-68630400	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:68629000-68630400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:68629000-68630400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:68629000-68630400	Weak transcription	NHEK	skin
14	chr5:68629000-68630600	Weak transcription	Adipose Nuclei	Adipose
15	chr5:68629000-68630600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:68629000-68630600	Weak transcription	Small Intestine	intestine
17	chr5:68629000-68630600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:68629000-68630600	Weak transcription	Osteobl	bone
19	chr5:68629000-68630800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:68629000-68630800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:68629000-68630800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:68629000-68630800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:68629000-68630800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:68629000-68630800	Weak transcription	K562	blood
25	chr5:68629000-68631000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:68629000-68631000	Weak transcription	Fetal Intestine Small	intestine
27	chr5:68629000-68631000	Enhancers	Fetal Muscle Trunk	muscle
28	chr5:68629000-68631200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:68629000-68631200	Weak transcription	HMEC	breast
30	chr5:68629000-68631800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:68629000-68645800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:68629000-68646000	Weak transcription	Primary T cells from cord blood	blood
33	chr5:68629000-68646800	Weak transcription	NH-A	brain
34	chr5:68629200-68630400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:68629200-68630400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:68629200-68630400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr5:68629200-68630400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:68629200-68630400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:68629200-68630400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr5:68629200-68630400	Weak transcription	Hela-S3	cervix
41	chr5:68629200-68630600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:68629200-68630600	Weak transcription	Primary B cells from cord blood	blood
43	chr5:68629200-68630600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:68629200-68630800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:68629200-68630800	Weak transcription	Placenta	Placenta
46	chr5:68629200-68631000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:68629200-68631200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:68629200-68646000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:68629400-68630400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr5:68629400-68630400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links