Variant report

Variant	rs10779510
Chromosome Location	chr1:209824707-209824708
allele	A/T
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	RAD21	chr1:209824599-209824983	SK-N-SH_RA	brain:	n/a	n/a
2	MAX	chr1:209824673-209824925	K562	blood:	n/a	chr1:209824778-209824787
3	MAX	chr1:209824367-209825086	SK-N-SH	brain:	n/a	chr1:209824778-209824787
4	ELK1	chr1:209824648-209824963	Hela-S3	cervix:	n/a	n/a
5	FOS	chr1:209824373-209825020	HUVEC	blood vessel:	n/a	chr1:209824779-209824787 chr1:209824777-209824789 chr1:209824777-209824788
6	EBF1	chr1:209824667-209824859	GM12878	blood:	n/a	chr1:209824707-209824718
7	TCF12	chr1:209823728-209825171	SK-N-SH	brain:	n/a	n/a
8	MAX	chr1:209824593-209825066	MCF-7	breast:	n/a	chr1:209824778-209824787
9	E2F6	chr1:209824580-209825008	A549	lung:	n/a	n/a
10	JUN	chr1:209824418-209824976	K562	blood:	n/a	chr1:209824779-209824787 chr1:209824777-209824789
11	MAX	chr1:209824436-209825033	Hela-S3	cervix:	n/a	chr1:209824778-209824787
12	E2F6	chr1:209824655-209824914	K562	blood:	n/a	n/a
13	UBTF	chr1:209824546-209824913	K562	blood:	n/a	n/a
14	E2F4	chr1:209824616-209824825	MCF10A-Er-Src	breast:	n/a	n/a
15	SMARCB1	chr1:209824459-209826866	Hela-S3	cervix:	n/a	n/a
16	JUND	chr1:209824522-209825033	A549	lung:	n/a	chr1:209824779-209824787 chr1:209824777-209824789
17	RFX5	chr1:209824324-209824998	Hela-S3	cervix:	n/a	n/a
18	FOSL2	chr1:209824623-209825043	MCF-7	breast:	n/a	chr1:209824779-209824787 chr1:209824777-209824789
19	FOSL2	chr1:209824544-209824971	A549	lung:	n/a	chr1:209824779-209824787 chr1:209824777-209824789
20	MAX	chr1:209824467-209824977	NB4	blood:	n/a	chr1:209824778-209824787
21	POLR2A	chr1:209824520-209824946	HCT-116	colon:	n/a	n/a
22	POLR2A	chr1:209824341-209826797	Hela-S3	cervix:	n/a	n/a
23	FOS	chr1:209824369-209824987	MCF10A-Er-Src	breast:	n/a	chr1:209824779-209824787 chr1:209824777-209824789 chr1:209824777-209824788
24	MAZ	chr1:209824557-209824976	K562	blood:	n/a	chr1:209824778-209824787
25	TBL1XR1	chr1:209824631-209824959	K562	blood:	n/a	n/a
26	UBTF	chr1:209824648-209824781	K562	blood:	n/a	n/a
27	MAX	chr1:209824368-209825096	SK-N-SH	brain:	n/a	chr1:209824778-209824787
28	ATF3	chr1:209824520-209824955	K562	blood:	n/a	n/a
29	FOS	chr1:209824372-209824973	MCF10A-Er-Src	breast:	n/a	chr1:209824779-209824787 chr1:209824777-209824789 chr1:209824777-209824788
30	POLR2A	chr1:209824520-209824970	U87	brain:	n/a	n/a
31	JUND	chr1:209824337-209825003	Hela-S3	cervix:	n/a	chr1:209824779-209824787 chr1:209824777-209824789
32	YY1	chr1:209824568-209824963	K562	blood:	n/a	n/a
33	ZNF143	chr1:209824686-209824863	K562	blood:	n/a	n/a
34	POLR2A	chr1:209823635-209826810	Hela-S3	cervix:	n/a	n/a
35	MAX	chr1:209824237-209825195	A549	lung:	n/a	chr1:209824778-209824787
36	MAX	chr1:209824348-209825129	ECC-1	luminal epithelium:	n/a	chr1:209824778-209824787
37	CUX1	chr1:209824481-209824972	K562	blood:	n/a	n/a
38	RAD21	chr1:209824570-209824915	Hela-S3	cervix:	n/a	n/a
39	RCOR1	chr1:209824447-209824959	K562	blood:	n/a	n/a
40	CTCF	chr1:209824560-209824710	HBMEC	blood vessel:	n/a	n/a
41	JUND	chr1:209824564-209824952	A549	lung:	n/a	chr1:209824779-209824787 chr1:209824777-209824789
42	FOS	chr1:209824381-209824973	MCF10A-Er-Src	breast:	n/a	chr1:209824779-209824787 chr1:209824777-209824789 chr1:209824777-209824788
43	ZNF384	chr1:209824652-209824836	K562	blood:	n/a	n/a
44	MAX	chr1:209824474-209824969	K562	blood:	n/a	chr1:209824778-209824787
45	STAT3	chr1:209824388-209824911	MCF10A-Er-Src	breast:	n/a	chr1:209824759-209824771
46	CTCF	chr1:209824589-209824741	K562	blood:	n/a	n/a
47	STAT3	chr1:209824379-209824789	MCF10A-Er-Src	breast:	n/a	chr1:209824759-209824771
48	FOSL2	chr1:209824517-209825025	MCF-7	breast:	n/a	chr1:209824779-209824787 chr1:209824777-209824789
49	TFAP2C	chr1:209824288-209825195	Hela-S3	cervix:	n/a	chr1:209824796-209824811
50	FOSL2	chr1:209824283-209825042	A549	lung:	n/a	chr1:209824779-209824787 chr1:209824777-209824789

Variant related genes	Relation type
LAMB3	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10863778	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2298924	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2298927	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2298929	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6540545	0.83[EUR][1000 genomes]
rs7519942	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv2762140	chr1:209816331-209830347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209814200-209825000	Enhancers	Fetal Muscle Leg	muscle
2	chr1:209814600-209826800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:209817000-209825400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:209817600-209824800	Transcr. at gene 5' and 3'	HMEC	breast
5	chr1:209817800-209825800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:209817800-209826000	Weak transcription	Brain Angular Gyrus	brain
7	chr1:209818000-209826000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:209818200-209825800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:209818200-209826000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:209818600-209825200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:209819000-209825200	Enhancers	HSMM	muscle
12	chr1:209819200-209824800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:209819200-209825000	Transcr. at gene 5' and 3'	NHEK	skin
14	chr1:209819200-209825400	Enhancers	NHLF	lung
15	chr1:209819200-209827400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:209819200-209831200	Enhancers	Pancreas	Pancrea
17	chr1:209819800-209825000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:209819800-209825000	Enhancers	NHDF-Ad	bronchial
19	chr1:209820000-209825400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:209820000-209825400	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:209820000-209825600	Weak transcription	Fetal Brain Female	brain
22	chr1:209820000-209825800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:209820400-209826200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:209820800-209825800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:209820800-209826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:209821000-209826200	Weak transcription	Fetal Brain Male	brain
27	chr1:209821600-209825000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:209821600-209828000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:209821800-209824800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:209821800-209824800	Enhancers	Small Intestine	intestine
31	chr1:209821800-209825000	Enhancers	HUVEC	blood vessel
32	chr1:209822000-209824800	Enhancers	Lung	lung
33	chr1:209822000-209825000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:209822400-209825000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:209822400-209825000	Enhancers	Right Ventricle	heart
36	chr1:209822400-209825800	Enhancers	Placenta	Placenta
37	chr1:209822600-209827200	Enhancers	HSMMtube	muscle
38	chr1:209822800-209825000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:209822800-209825000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:209822800-209825200	Enhancers	NH-A	brain
41	chr1:209822800-209825200	Enhancers	Osteobl	bone
42	chr1:209823000-209826400	Weak transcription	Psoas Muscle	Psoas
43	chr1:209823000-209836200	Weak transcription	Ovary	ovary
44	chr1:209823200-209825000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:209823200-209825000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:209823200-209825200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:209823200-209825200	Enhancers	K562	blood
48	chr1:209823200-209825600	Weak transcription	Brain Germinal Matrix	brain
49	chr1:209823200-209825600	Weak transcription	Fetal Heart	heart
50	chr1:209823200-209826000	Weak transcription	Fetal Kidney	kidney

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