Variant report

Variant	rs10051558
Chromosome Location	chr5:16740330-16740331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr5:16740147-16740411	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:16740260-16740410	BJ	skin:	n/a	n/a
3	JUND	chr5:16740118-16742561	H1-hESC	embryonic stem cell:	n/a	n/a
4	GTF2F1	chr5:16740212-16740488	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:16740272-16741471	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:16740134-16740849	A549	lung:	n/a	n/a
7	POLR2A	chr5:16740169-16741465	H1-hESC	embryonic stem cell:	n/a	n/a
8	MXI1	chr5:16740216-16740812	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr5:16740175-16741547	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:16740171-16740899	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr5:16740021-16741530	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:16740064-16742629	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr5:16740085-16741600	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:16739921-16741055	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr5:16740088-16740389	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16734341..16736922-chr5:16738909..16741583,2	MCF-7	breast:

No data

Variant related genes	Relation type
MYO10	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10037291	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10043510	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10051930	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10077298	0.91[EUR][1000 genomes]
rs13359146	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60500565	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6896958	0.93[EUR][1000 genomes]
rs7712627	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7712637	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7729830	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7729861	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7729975	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7730280	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7730837	0.91[EUR][1000 genomes]
rs9312925	0.94[EUR][1000 genomes]

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	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv880373	chr5:16710572-16785604	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv520128	chr5:16737513-16746784	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16730800-16741400	Strong transcription	A549	lung
2	chr5:16730800-16744400	Weak transcription	HSMM	muscle
3	chr5:16734600-16744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:16735200-16746600	Weak transcription	HSMMtube	muscle
5	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
6	chr5:16736600-16740400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:16736800-16740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:16736800-16741800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:16736800-16756600	Weak transcription	Ovary	ovary
10	chr5:16736800-16758200	Weak transcription	Spleen	Spleen
11	chr5:16736800-16761200	Weak transcription	Hela-S3	cervix
12	chr5:16736800-16761800	Weak transcription	Colonic Mucosa	Colon
13	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:16737000-16741600	Weak transcription	NHDF-Ad	bronchial
15	chr5:16737000-16742000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:16737000-16742000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:16737800-16740800	Weak transcription	Fetal Kidney	kidney
19	chr5:16738000-16741600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:16738000-16742400	Active TSS	Fetal Brain Female	brain
21	chr5:16738000-16743800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:16738000-16746400	Weak transcription	Osteobl	bone
23	chr5:16738200-16740600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:16738400-16740600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:16738400-16740600	Weak transcription	NH-A	brain
26	chr5:16738400-16740800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:16738400-16742000	Weak transcription	Lung	lung
28	chr5:16738400-16748800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:16738600-16740600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:16738600-16740600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:16738600-16741200	Weak transcription	NHLF	lung
32	chr5:16738600-16744400	Weak transcription	Gastric	stomach
33	chr5:16738600-16746800	Weak transcription	Fetal Intestine Large	intestine
34	chr5:16739000-16741800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:16739200-16740600	Weak transcription	Placenta	Placenta
36	chr5:16739200-16740600	Weak transcription	HepG2	liver
37	chr5:16739200-16740600	Weak transcription	HMEC	breast
38	chr5:16739200-16744400	Weak transcription	Pancreas	Pancrea
39	chr5:16739200-16750600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:16739400-16740600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:16739400-16741000	Weak transcription	NHEK	skin
42	chr5:16739400-16741200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:16739400-16741600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:16739400-16742000	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr5:16739400-16742400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:16739400-16758000	Weak transcription	Stomach Mucosa	stomach
47	chr5:16739600-16742000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr5:16739600-16742400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr5:16739800-16740600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:16739800-16742200	Active TSS	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links