Variant report

Variant	rs10051930
Chromosome Location	chr5:16741099-16741100
allele	A/C
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	MYC	chr5:16740733-16741444	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr5:16740760-16741711	SK-N-SH	brain:	n/a	chr5:16741048-16741055 chr5:16741048-16741055 chr5:16741048-16741055
3	CTCF	chr5:16741063-16741462	MCF-7	breast:	n/a	n/a
4	SP1	chr5:16740915-16741488	H1-hESC	embryonic stem cell:	n/a	chr5:16741223-16741237
5	TAF1	chr5:16741046-16741393	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr5:16741007-16741504	HCT-116	colon:	n/a	n/a
7	SIN3AK20	chr5:16741099-16741412	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr5:16741030-16741464	MCF-7	breast:	n/a	n/a
9	TEAD4	chr5:16741022-16741460	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr5:16741060-16741210	SK-N-SH_RA	brain:	n/a	n/a
11	TCF12	chr5:16741069-16741645	SK-N-SH	brain:	n/a	n/a
12	JUND	chr5:16740118-16742561	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr5:16741098-16741369	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:16740272-16741471	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:16741040-16741190	HCM	heart:	n/a	n/a
16	RAD21	chr5:16740976-16741412	HepG2	liver:	n/a	n/a
17	RAD21	chr5:16741072-16741424	HepG2	liver:	n/a	n/a
18	SP1	chr5:16740780-16741510	H1-hESC	embryonic stem cell:	n/a	chr5:16741223-16741237
19	CHD1	chr5:16740537-16742462	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr5:16741091-16741381	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr5:16740840-16742771	SK-N-SH	brain:	n/a	chr5:16741889-16741903 chr5:16741342-16741356
22	CTCF	chr5:16741040-16741190	NHDF-neo	bronchial:	n/a	n/a
23	RAD21	chr5:16741055-16741403	Hela-S3	cervix:	n/a	n/a
24	TCF12	chr5:16741038-16741760	SK-N-SH	brain:	n/a	n/a
25	NANOG	chr5:16741047-16741322	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:16740169-16741465	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr5:16740588-16741505	H1-hESC	embryonic stem cell:	n/a	chr5:16741343-16741354 chr5:16741343-16741354 chr5:16741341-16741354 chr5:16741338-16741355 chr5:16741341-16741352
28	RAD21	chr5:16740976-16741458	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr5:16741040-16741190	HVMF	connective:	n/a	n/a
30	BRCA1	chr5:16740663-16741478	H1-hESC	embryonic stem cell:	n/a	chr5:16741308-16741315
31	GTF2F1	chr5:16740799-16741500	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr5:16741080-16741230	AoAF	blood vessel:	n/a	n/a
33	POLR2A	chr5:16741007-16741459	H1-hESC	embryonic stem cell:	n/a	n/a
34	EP300	chr5:16740950-16741459	H1-hESC	embryonic stem cell:	n/a	chr5:16741342-16741356
35	SP4	chr5:16741065-16741421	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr5:16741059-16741390	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFK	chr5:16740838-16741618	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF2	chr5:16740175-16741547	H1-hESC	embryonic stem cell:	n/a	n/a
39	HDAC2	chr5:16740971-16741350	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr5:16741092-16741343	HepG2	liver:	n/a	n/a
41	NANOG	chr5:16741034-16741263	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr5:16741077-16741456	MCF-7	breast:	n/a	n/a
43	CTCF	chr5:16741020-16741170	BJ	skin:	n/a	n/a
44	CTCF	chr5:16741080-16741230	NB4	blood:	n/a	n/a
45	POLR2A	chr5:16740497-16741552	H1-neurons	neurons:	n/a	n/a
46	TAF7	chr5:16740629-16741539	H1-hESC	embryonic stem cell:	n/a	n/a
47	GATA3	chr5:16741042-16741747	SK-N-SH	brain:	n/a	chr5:16741048-16741055 chr5:16741048-16741055 chr5:16741048-16741055
48	RAD21	chr5:16741070-16741344	SK-N-SH_RA	brain:	n/a	n/a
49	SIN3A	chr5:16740021-16741530	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr5:16741097-16741487	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:16740840..16741721-chr5:16776516..16777353,6	MCF-7	breast:
2	chr5:16740780..16741704-chr5:16776541..16777578,3	MCF-7	breast:
3	chr5:16740410..16741382-chr5:17189423..17190130,2	MCF-7	breast:
4	chr5:16734341..16736922-chr5:16738909..16741583,2	MCF-7	breast:

Variant related genes	Relation type
MYO10	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10037291	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10043510	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10051558	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10077298	0.94[EUR][1000 genomes]
rs13359146	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17429640	0.85[CEU][hapmap]
rs60500565	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6873084	0.92[CEU][hapmap]
rs6896958	0.92[CEU][hapmap];0.89[GIH][hapmap];0.81[TSI][hapmap];0.93[EUR][1000 genomes]
rs7712627	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7712637	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7729830	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7729861	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7729975	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7730280	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7730837	0.94[EUR][1000 genomes]
rs9312925	0.92[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:93 , 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	chr5:16736800-16741800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:16736800-16756600	Weak transcription	Ovary	ovary
8	chr5:16736800-16758200	Weak transcription	Spleen	Spleen
9	chr5:16736800-16761200	Weak transcription	Hela-S3	cervix
10	chr5:16736800-16761800	Weak transcription	Colonic Mucosa	Colon
11	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:16737000-16741600	Weak transcription	NHDF-Ad	bronchial
13	chr5:16737000-16742000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:16737000-16742000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:16738000-16741600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:16738000-16742400	Active TSS	Fetal Brain Female	brain
18	chr5:16738000-16743800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:16738000-16746400	Weak transcription	Osteobl	bone
20	chr5:16738400-16742000	Weak transcription	Lung	lung
21	chr5:16738400-16748800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:16738600-16741200	Weak transcription	NHLF	lung
23	chr5:16738600-16744400	Weak transcription	Gastric	stomach
24	chr5:16738600-16746800	Weak transcription	Fetal Intestine Large	intestine
25	chr5:16739000-16741800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:16739200-16744400	Weak transcription	Pancreas	Pancrea
27	chr5:16739200-16750600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:16739400-16741200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:16739400-16741600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:16739400-16742000	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr5:16739400-16742400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:16739400-16758000	Weak transcription	Stomach Mucosa	stomach
33	chr5:16739600-16742000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr5:16739600-16742400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr5:16739800-16742200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr5:16739800-16742200	Active TSS	Brain Germinal Matrix	brain
37	chr5:16739800-16742400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr5:16740000-16741600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:16740000-16742000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr5:16740000-16742000	Active TSS	Brain Cingulate Gyrus	brain
41	chr5:16740000-16742200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr5:16740000-16742200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:16740000-16742200	Active TSS	Fetal Muscle Trunk	muscle
44	chr5:16740000-16742600	Active TSS	Brain Hippocampus Middle	brain
45	chr5:16740200-16741200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr5:16740200-16741200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr5:16740200-16741400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:16740200-16741800	Strong transcription	HUVEC	blood vessel
49	chr5:16740200-16742000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:16740200-16742200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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