Variant report

Variant	rs1783562
Chromosome Location	chr11:65789007-65789008
allele	A/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	RCOR1	chr11:65787757-65789182	IMR90	lung:	n/a	n/a
2	TCF12	chr11:65788443-65789055	SK-N-SH	brain:	n/a	chr11:65788727-65788734
3	JUND	chr11:65788512-65789067	SK-N-SH	brain:	n/a	chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788679-65788687 chr11:65788680-65788687 chr11:65788677-65788688 chr11:65788679-65788687 chr11:65788678-65788688 chr11:65788771-65788782
4	EGR1	chr11:65788292-65789085	HCT-116	colon:	n/a	chr11:65788697-65788706 chr11:65788860-65788873 chr11:65788693-65788708 chr11:65788694-65788707
5	JUND	chr11:65788305-65789077	HCT-116	colon:	n/a	chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788679-65788687 chr11:65788680-65788687 chr11:65788677-65788688 chr11:65788679-65788687 chr11:65788678-65788688 chr11:65788771-65788782
6	JUND	chr11:65788308-65789090	HCT-116	colon:	n/a	chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788679-65788687 chr11:65788680-65788687 chr11:65788677-65788688 chr11:65788679-65788687 chr11:65788678-65788688 chr11:65788771-65788782
7	FOSL1	chr11:65788321-65789145	HCT-116	colon:	n/a	chr11:65788677-65788688 chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788679-65788687 chr11:65788680-65788687 chr11:65788679-65788687 chr11:65788678-65788688 chr11:65788771-65788782
8	CTCF	chr11:65788900-65789050	GM12870	blood:	n/a	chr11:65788940-65788949
9	EGR1	chr11:65788458-65789099	HCT-116	colon:	n/a	chr11:65788697-65788706 chr11:65788860-65788873 chr11:65788693-65788708 chr11:65788694-65788707
10	CTCF	chr11:65788960-65789110	GM12869	blood:	n/a	n/a
11	JUN	chr11:65787984-65789051	K562	blood:	n/a	chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788678-65788688 chr11:65788679-65788687 chr11:65788680-65788687 chr11:65788679-65788687 chr11:65788678-65788688 chr11:65788771-65788782

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65789003-65789053	K562	blood:	n/a
2	chr11:65789003-65789053	Hela-S3	cervix:	n/a
3	chr11:65789003-65789053	HCT-116	colon:	n/a
4	chr11:65789003-65789053	HepG2	liver:	n/a
5	chr11:65789003-65789053	PANC-1	pancreas:	n/a
6	chr11:65789003-65789053	U87	brain:	n/a
7	chr11:65789003-65789053	CMK	blood:	n/a
8	chr11:65789003-65789053	BJ	skin:	n/a
9	chr11:65789003-65789053	HEK293	kidney:	embryo
10	chr11:65789003-65789053	BE2_C	brain:	n/a
11	chr11:65789003-65789053	NB4	blood:	n/a
12	chr11:65789003-65789053	H1-hESC	embryonic stem cell:	embryo
13	chr11:65789003-65789053	AG04450	lung:	fetal
14	chr11:65789003-65789053	HIPEpiC	eye:	n/a
15	chr11:65789003-65789053	NT2-D1	testis:	n/a
16	chr11:65789003-65789053	Jurkat	blood:	n/a
17	chr11:65789003-65789053	HAEpiC	amniotic membrane:	n/a
18	chr11:65789003-65789053	AoSMC	blood vessel:	n/a
19	chr11:65789003-65789053	HRE	kidney:	n/a
20	chr11:65789003-65789053	Hepatocyte	liver:	n/a
21	chr11:65789003-65789053	Caco-2	colon:	n/a
22	chr11:65789003-65789053	ECC-1	luminal epithelium:	n/a
23	chr11:65789003-65789053	NHBE	bronchial:	n/a
24	chr11:65789003-65789053	HRPEpiC	eye:	n/a
25	chr11:65789003-65789053	GM12892	blood:	n/a
26	chr11:65789003-65789053	HMEC	breast:	n/a
27	chr11:65789003-65789053	HCPEpiC	choroid plexus:	n/a
28	chr11:65789003-65789053	IMR90	lung:	fetal
29	chr11:65789003-65789053	AG10803	skin:	n/a
30	chr11:65789003-65789053	ProgFib	skin:	n/a
31	chr11:65789003-65789053	HCF	heart:	n/a
32	chr11:65789003-65789053	RPTEC	kidney:	n/a
33	chr11:65789003-65789053	MCF10A-Er-Src	breast:	n/a
34	chr11:65789003-65789053	SKMC	muscle:	n/a
35	chr11:65789003-65789053	GM19239	blood:	n/a
36	chr11:65789003-65789053	GM06990	blood:	n/a
37	chr11:65789003-65789053	HNPCEpiC	eye:	n/a
38	chr11:65789003-65789053	HL-60	blood:	n/a
39	chr11:65789003-65789053	NHDF-neo	bronchial:	n/a
40	chr11:65789003-65789053	HCM	heart:	n/a
41	chr11:65789003-65789053	SK-N-SH	brain:	n/a
42	chr11:65789003-65789053	AG09319	gingival:	n/a
43	chr11:65789003-65789053	PFSK-1	brain:	n/a
44	chr11:65789003-65789053	SK-N-MC	brain:	n/a
45	chr11:65789003-65789053	NH-A	brain:	n/a
46	chr11:65789003-65789053	T-47D	breast:	n/a
47	chr11:65789003-65789053	SK-N-SH_RA	brain:	n/a
48	chr11:65789003-65789053	GM12878	blood:	n/a
49	chr11:65789003-65789053	AG09309	skin:	n/a
50	chr11:65789003-65789053	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65623999..65626428-chr11:65787537..65789052,2	MCF-7	breast:
2	chr11:65756386..65757113-chr11:65788725..65789470,2	MCF-7	breast:
3	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
4	chr11:65788482..65791914-chr11:65833749..65837289,3	MCF-7	breast:
5	chr11:65768123..65770687-chr11:65788351..65790253,5	MCF-7	breast:
6	chr11:65788506..65790955-chr11:65792237..65795353,3	MCF-7	breast:
7	chr11:65787106..65790003-chr11:65812691..65814392,2	MCF-7	breast:
8	chr11:65656381..65659645-chr11:65787840..65790125,3	K562	blood:
9	chr11:65788387..65789947-chr11:65837601..65839297,2	K562	blood:
10	chr11:65788326..65791572-chr11:65817870..65821514,6	MCF-7	breast:

Variant related genes	Relation type
CATSPER1	TF binding region
CATSPER1	CpG island
ENSG00000238752	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175229	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1143916	1.00[AMR][1000 genomes]
rs1144796	1.00[AMR][1000 genomes]
rs1151508	1.00[AMR][1000 genomes]
rs1151532	0.92[AFR][1000 genomes]
rs1190945	0.85[AFR][1000 genomes]
rs1191715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1201503	1.00[AMR][1000 genomes]
rs1203551	0.85[AFR][1000 genomes]
rs1203552	0.85[AFR][1000 genomes]
rs1203749	0.92[AFR][1000 genomes]
rs1203750	0.92[AFR][1000 genomes]
rs1203799	1.00[AMR][1000 genomes]
rs1203801	0.92[AFR][1000 genomes]
rs1630638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2430981	0.82[AFR][1000 genomes]
rs2452687	0.92[AFR][1000 genomes]
rs3017606	0.82[AFR][1000 genomes]
rs471709	0.89[AFR][1000 genomes]
rs472853	0.92[AFR][1000 genomes]
rs475817	0.92[AFR][1000 genomes]
rs477001	0.92[AFR][1000 genomes]
rs485547	0.86[AFR][1000 genomes]
rs4930332	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502898	0.82[AFR][1000 genomes]
rs504456	0.92[AFR][1000 genomes]
rs505412	0.85[AFR][1000 genomes]
rs505642	0.92[AFR][1000 genomes]
rs512316	0.85[AFR][1000 genomes]
rs515778	0.85[AFR][1000 genomes]
rs519911	0.92[AFR][1000 genomes]
rs527279	0.92[AFR][1000 genomes]
rs547282	0.92[AFR][1000 genomes]
rs547892	0.92[AFR][1000 genomes]
rs549228	0.92[AFR][1000 genomes]
rs551652	0.92[AFR][1000 genomes]
rs560105	0.92[AFR][1000 genomes]
rs561199	0.92[AFR][1000 genomes]
rs561869	0.92[AFR][1000 genomes]
rs567414	0.92[AFR][1000 genomes]
rs568423	0.92[AFR][1000 genomes]
rs571368	0.85[AFR][1000 genomes]
rs572697	0.85[AFR][1000 genomes]
rs577301	0.92[AFR][1000 genomes]
rs581247	0.85[AFR][1000 genomes]
rs59973646	1.00[AMR][1000 genomes]
rs6591196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693382	0.92[AFR][1000 genomes]
rs73498471	1.00[AMR][1000 genomes]
rs7934588	0.89[AFR][1000 genomes]
rs7947668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948477	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
4	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
5	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65782600-65789800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:65783400-65811200	Weak transcription	Aorta	Aorta
3	chr11:65783800-65790200	Weak transcription	Right Atrium	heart
4	chr11:65784200-65789800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:65784200-65789800	Weak transcription	Right Ventricle	heart
6	chr11:65787400-65789800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:65787600-65789200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:65787600-65789800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:65787800-65789200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr11:65787800-65789200	Enhancers	Osteobl	bone
11	chr11:65787800-65789800	Enhancers	K562	blood
12	chr11:65787800-65790400	Enhancers	HUVEC	blood vessel
13	chr11:65787800-65790600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:65787800-65790600	Enhancers	Spleen	Spleen
15	chr11:65788000-65789200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:65788000-65789400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:65788000-65789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:65788000-65790000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:65788000-65790000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr11:65788000-65790400	Enhancers	Primary B cells from cord blood	blood
21	chr11:65788000-65790600	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:65788200-65789200	Enhancers	Esophagus	oesophagus
23	chr11:65788200-65789600	Enhancers	NH-A	brain
24	chr11:65788200-65789800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:65788200-65789800	Enhancers	A549	lung
26	chr11:65788200-65790200	Enhancers	HMEC	breast
27	chr11:65788200-65790200	Enhancers	NHDF-Ad	bronchial
28	chr11:65788400-65789200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:65788400-65789800	Enhancers	Adipose Nuclei	Adipose
30	chr11:65788400-65790000	Enhancers	NHLF	lung
31	chr11:65788400-65790400	Enhancers	HSMM	muscle
32	chr11:65788600-65789200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:65788600-65789200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:65788600-65789600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:65788600-65789600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:65788600-65789800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:65788600-65789800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:65788600-65789800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:65788600-65789800	Bivalent Enhancer	HepG2	liver
40	chr11:65788600-65789800	Enhancers	NHEK	skin
41	chr11:65788600-65790200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:65788800-65789400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr11:65788800-65789400	Bivalent Enhancer	Placenta	Placenta
44	chr11:65788800-65789400	Enhancers	HSMMtube	muscle
45	chr11:65788800-65789800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:65788800-65789800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:65788800-65789800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:65788800-65789800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:65789000-65789800	Enhancers	Hela-S3	cervix
50	chr11:65789000-65790200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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