Variant report

Variant	rs4930332
Chromosome Location	chr11:65789810-65789811
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	SMC3	chr11:65789748-65790556	SK-N-SH	brain:	n/a	chr11:65790076-65790090
2	HCFC1	chr11:65789792-65790480	Hela-S3	cervix:	n/a	n/a
3	RAD21	chr11:65789801-65790219	A549	lung:	n/a	chr11:65790140-65790153
4	TCF12	chr11:65789739-65790408	ECC-1	luminal epithelium:	n/a	n/a
5	RAD21	chr11:65789789-65790342	H1-hESC	embryonic stem cell:	n/a	chr11:65790140-65790153
6	RAD21	chr11:65789781-65790421	ECC-1	luminal epithelium:	n/a	chr11:65790140-65790153
7	ELF1	chr11:65789792-65790573	K562	blood:	n/a	chr11:65790139-65790151
8	POLR2A	chr11:65789766-65790266	HCT-116	colon:	n/a	n/a
9	MAX	chr11:65789799-65790348	ECC-1	luminal epithelium:	n/a	chr11:65790291-65790300
10	E2F6	chr11:65789806-65790383	A549	lung:	n/a	chr11:65790035-65790045
11	CTCF	chr11:65789786-65790322	A549	lung:	n/a	chr11:65790075-65790091 chr11:65790074-65790092
12	ELF1	chr11:65789723-65790329	GM12878	blood:	n/a	chr11:65790139-65790151
13	CTCF	chr11:65789694-65790668	A549	lung:	n/a	chr11:65790075-65790091 chr11:65790074-65790092
14	POLR2A	chr11:65789678-65790216	K562	blood:	n/a	n/a
15	MAZ	chr11:65789712-65790395	IMR90	lung:	n/a	chr11:65790291-65790300
16	CTCF	chr11:65789810-65790358	H1-hESC	embryonic stem cell:	n/a	chr11:65790075-65790091 chr11:65790074-65790092
17	CBX3	chr11:65789795-65790347	K562	blood:	n/a	n/a
18	RAD21	chr11:65789718-65790505	HCT-116	colon:	n/a	chr11:65790140-65790153
19	RAD21	chr11:65789807-65790303	ECC-1	luminal epithelium:	n/a	chr11:65790140-65790153
20	CTCF	chr11:65789783-65790683	SK-N-SH	brain:	n/a	chr11:65790075-65790091 chr11:65790074-65790092
21	CTCF	chr11:65789795-65790336	HCT-116	colon:	n/a	chr11:65790075-65790091 chr11:65790074-65790092
22	RAD21	chr11:65789760-65790381	A549	lung:	n/a	chr11:65790140-65790153
23	RAD21	chr11:65789799-65790257	H1-hESC	embryonic stem cell:	n/a	chr11:65790140-65790153
24	POLR2A	chr11:65789743-65790193	U87	brain:	n/a	n/a
25	MAX	chr11:65789789-65790300	SK-N-SH	brain:	n/a	chr11:65790291-65790300
26	POLR2A	chr11:65789802-65790287	U87	brain:	n/a	n/a
27	YY1	chr11:65789779-65790197	K562	blood:	n/a	n/a
28	JUN	chr11:65789710-65790486	K562	blood:	n/a	chr11:65790042-65790051
29	RAD21	chr11:65789724-65790580	SK-N-SH	brain:	n/a	chr11:65790140-65790153
30	CTCF	chr11:65789791-65790540	HCT-116	colon:	n/a	chr11:65790075-65790091 chr11:65790074-65790092
31	POLR2A	chr11:65789773-65790164	K562	blood:	n/a	n/a
32	MAX	chr11:65789738-65790382	A549	lung:	n/a	chr11:65790291-65790300

No.	Distal block	Cell Line	Cell type
1	chr11:65756138..65757491-chr11:65789561..65790625,11	MCF-7	breast:
2	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
3	chr11:65788482..65791914-chr11:65833749..65837289,3	MCF-7	breast:
4	chr11:65768123..65770687-chr11:65788351..65790253,5	MCF-7	breast:
5	chr11:65788506..65790955-chr11:65792237..65795353,3	MCF-7	breast:
6	chr11:65769984..65770667-chr11:65789623..65790522,2	K562	blood:
7	chr11:65789622..65790171-chr11:66025458..66026353,2	K562	blood:
8	chr11:65787106..65790003-chr11:65812691..65814392,2	MCF-7	breast:
9	chr11:65756240..65757374-chr11:65789632..65790577,5	MCF-7	breast:
10	chr11:65656381..65659645-chr11:65787840..65790125,3	K562	blood:
11	chr11:65770090..65771007-chr11:65789668..65790582,3	MCF-7	breast:
12	chr11:65756555..65757565-chr11:65789607..65790550,4	K562	blood:
13	chr11:65651834..65652735-chr11:65789620..65790519,4	K562	blood:
14	chr11:65788387..65789947-chr11:65837601..65839297,2	K562	blood:
15	chr11:65780150..65780653-chr11:65789668..65790559,2	MCF-7	breast:
16	chr11:65788326..65791572-chr11:65817870..65821514,6	MCF-7	breast:

Variant related genes	Relation type
CATSPER1	TF binding region
ENSG00000238752	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000175376	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000174996	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1143916	1.00[AMR][1000 genomes]
rs1144796	1.00[AMR][1000 genomes]
rs1151508	1.00[AMR][1000 genomes]
rs1151532	0.96[AFR][1000 genomes]
rs1190945	0.89[AFR][1000 genomes]
rs1190946	0.82[AFR][1000 genomes]
rs1191715	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1201503	1.00[AMR][1000 genomes]
rs1203551	0.89[AFR][1000 genomes]
rs1203552	0.89[AFR][1000 genomes]
rs1203749	0.96[AFR][1000 genomes]
rs1203750	0.96[AFR][1000 genomes]
rs1203799	1.00[AMR][1000 genomes]
rs1203801	0.96[AFR][1000 genomes]
rs1630638	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1783562	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2430981	0.86[AFR][1000 genomes]
rs2452687	0.96[AFR][1000 genomes]
rs3017606	0.85[AFR][1000 genomes]
rs471709	0.93[AFR][1000 genomes]
rs472853	0.96[AFR][1000 genomes]
rs475817	0.96[AFR][1000 genomes]
rs477001	0.96[AFR][1000 genomes]
rs485547	0.89[AFR][1000 genomes]
rs502898	0.86[AFR][1000 genomes]
rs504456	0.96[AFR][1000 genomes]
rs505412	0.89[AFR][1000 genomes]
rs505642	0.96[AFR][1000 genomes]
rs512316	0.89[AFR][1000 genomes]
rs515778	0.89[AFR][1000 genomes]
rs519911	0.96[AFR][1000 genomes]
rs527279	0.96[AFR][1000 genomes]
rs532265	0.83[AFR][1000 genomes]
rs547282	0.96[AFR][1000 genomes]
rs547892	0.96[AFR][1000 genomes]
rs549228	0.96[AFR][1000 genomes]
rs551652	0.96[AFR][1000 genomes]
rs555826	0.82[AFR][1000 genomes]
rs560105	0.96[AFR][1000 genomes]
rs560983	0.80[AFR][1000 genomes]
rs561199	0.96[AFR][1000 genomes]
rs561869	0.96[AFR][1000 genomes]
rs567414	0.96[AFR][1000 genomes]
rs568423	0.96[AFR][1000 genomes]
rs571368	0.89[AFR][1000 genomes]
rs572697	0.89[AFR][1000 genomes]
rs577301	0.96[AFR][1000 genomes]
rs581247	0.89[AFR][1000 genomes]
rs59973646	1.00[AMR][1000 genomes]
rs6591196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693382	0.96[AFR][1000 genomes]
rs73498471	1.00[AMR][1000 genomes]
rs7934588	0.85[AFR][1000 genomes]
rs7947668	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs948477	0.92[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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65783400-65811200	Weak transcription	Aorta	Aorta
2	chr11:65783800-65790200	Weak transcription	Right Atrium	heart
3	chr11:65787800-65790400	Enhancers	HUVEC	blood vessel
4	chr11:65787800-65790600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:65787800-65790600	Enhancers	Spleen	Spleen
6	chr11:65788000-65790000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65788000-65790000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:65788000-65790400	Enhancers	Primary B cells from cord blood	blood
9	chr11:65788000-65790600	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:65788200-65790200	Enhancers	HMEC	breast
11	chr11:65788200-65790200	Enhancers	NHDF-Ad	bronchial
12	chr11:65788400-65790000	Enhancers	NHLF	lung
13	chr11:65788400-65790400	Enhancers	HSMM	muscle
14	chr11:65788600-65790200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:65789000-65790200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:65789000-65790200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:65789000-65790400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr11:65789200-65790200	Weak transcription	Esophagus	oesophagus
19	chr11:65789400-65790400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:65789400-65790600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr11:65789400-65790600	Enhancers	Placenta	Placenta
22	chr11:65789600-65790000	Weak transcription	NH-A	brain
23	chr11:65789600-65790200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:65789800-65790000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:65789800-65790000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:65789800-65790000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
27	chr11:65789800-65790000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr11:65789800-65790000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr11:65789800-65790000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr11:65789800-65790000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:65789800-65790000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:65789800-65790000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:65789800-65790000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65789800-65790000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr11:65789800-65790000	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr11:65789800-65790000	Active TSS	Brain Hippocampus Middle	brain
37	chr11:65789800-65790000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr11:65789800-65790000	Bivalent Enhancer	Colonic Mucosa	Colon
39	chr11:65789800-65790000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
40	chr11:65789800-65790000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:65789800-65790000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
42	chr11:65789800-65790000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:65789800-65790000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr11:65789800-65790000	Flanking Active TSS	Small Intestine	intestine
45	chr11:65789800-65790000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr11:65789800-65790000	Enhancers	GM12878-XiMat	blood
47	chr11:65789800-65790000	Flanking Active TSS	Hela-S3	cervix
48	chr11:65789800-65790000	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr11:65789800-65790000	Enhancers	HSMMtube	muscle
50	chr11:65789800-65790200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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