Variant report

Variant	rs45530935
Chromosome Location	chr10:97051877-97051878
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	STAT5A	chr10:97050429-97052041	GM12878	blood:	n/a	n/a
2	POLR2A	chr10:97050246-97051883	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:97050192-97051925	GM12892	blood:	n/a	n/a
4	POLR2A	chr10:97050400-97051889	GM12892	blood:	n/a	n/a
5	POLR2A	chr10:97051315-97051917	GM12891	blood:	n/a	n/a
6	POLR2A	chr10:97051474-97051947	GM12892	blood:	n/a	n/a
7	POLR2A	chr10:97050317-97052009	GM12892	blood:	n/a	n/a
8	MTA3	chr10:97050849-97052204	GM12878	blood:	n/a	n/a
9	ZNF263	chr10:97050465-97051914	HEK293-T-REx	kidney:	n/a	n/a
10	CTBP2	chr10:97050277-97051963	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:97051328-97051968	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:97050120-97052013	GM12892	blood:	n/a	n/a
13	CTCF	chr10:97051760-97051910	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:97050804..97052725-chr10:97120124..97123059,2	K562	blood:
2	chr10:97002381..97008883-chr10:97045266..97052392,13	MCF-7	breast:
3	chr10:97030116..97038568-chr10:97046190..97052064,12	MCF-7	breast:

Variant related genes	Relation type
PDLIM1	TF binding region
ENSG00000107438	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12098317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45607240	0.89[AFR][1000 genomes]
rs7071783	1.00[AMR][1000 genomes]
rs73317299	1.00[AMR][1000 genomes]
rs7923044	1.00[AMR][1000 genomes]

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	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97050600-97054600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:97051000-97052000	Flanking Active TSS	GM12878-XiMat	blood
3	chr10:97051000-97053200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:97051200-97052000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:97051200-97052000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:97051200-97052000	Enhancers	HepG2	liver
7	chr10:97051200-97053200	Weak transcription	Fetal Kidney	kidney
8	chr10:97051200-97054400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:97051200-97054400	Weak transcription	NHLF	lung
10	chr10:97051200-97054600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:97051200-97054600	Weak transcription	Aorta	Aorta
12	chr10:97051200-97054600	Weak transcription	Liver	Liver
13	chr10:97051200-97054600	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:97051200-97054600	Weak transcription	Lung	lung
15	chr10:97051200-97054600	Weak transcription	Psoas Muscle	Psoas
16	chr10:97051200-97054600	Weak transcription	Right Atrium	heart
17	chr10:97051200-97054800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:97051200-97054800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:97051200-97054800	Weak transcription	HSMM	muscle
20	chr10:97051200-97055000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr10:97051200-97056800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr10:97051400-97052000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr10:97051400-97052000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr10:97051400-97052000	Enhancers	K562	blood
25	chr10:97051400-97052400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr10:97051400-97052600	Enhancers	Primary B cells from cord blood	blood
27	chr10:97051400-97052800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:97051400-97053200	Weak transcription	Adipose Nuclei	Adipose
29	chr10:97051400-97053200	Weak transcription	Fetal Intestine Large	intestine
30	chr10:97051400-97054200	Weak transcription	HMEC	breast
31	chr10:97051400-97054200	Weak transcription	NHEK	skin
32	chr10:97051400-97054400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr10:97051400-97054400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr10:97051400-97054400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:97051400-97054400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:97051400-97054400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr10:97051400-97054400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:97051400-97054400	Weak transcription	Colonic Mucosa	Colon
39	chr10:97051400-97054400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr10:97051400-97054400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:97051400-97054400	Weak transcription	Osteobl	bone
42	chr10:97051400-97054600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr10:97051400-97054600	Enhancers	Primary B cells from peripheral blood	blood
44	chr10:97051400-97054600	Weak transcription	Esophagus	oesophagus
45	chr10:97051400-97054600	Weak transcription	Left Ventricle	heart
46	chr10:97051400-97054600	Weak transcription	Pancreas	Pancrea
47	chr10:97051400-97054600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr10:97051400-97054600	Weak transcription	HUVEC	blood vessel
49	chr10:97051600-97052600	Weak transcription	Fetal Intestine Small	intestine
50	chr10:97051600-97054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links