Variant report

Variant	rs4910118
Chromosome Location	chr11:10329685-10329686
allele	C/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	HDAC2	chr11:10329029-10329870	HepG2	liver:	n/a	n/a
2	CTCF	chr11:10329233-10329884	K562	blood:	n/a	chr11:10329744-10329757 chr11:10329490-10329511 chr11:10329495-10329513 chr11:10329496-10329512 chr11:10329497-10329510
3	USF2	chr11:10329424-10329877	GM12878	blood:	n/a	n/a
4	GABPA	chr11:10329590-10329852	K562	blood:	n/a	n/a
5	POLR2A	chr11:10325891-10330101	HCT-116	colon:	n/a	n/a
6	NFATC1	chr11:10329407-10329866	GM12878	blood:	n/a	n/a
7	RAD21	chr11:10328762-10329930	IMR90	lung:	n/a	chr11:10329056-10329070 chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512
8	MXI1	chr11:10328965-10329944	GM12878	blood:	n/a	n/a
9	TAF1	chr11:10328879-10329945	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr11:10328570-10330229	A549	lung:	n/a	chr11:10329713-10329729 chr11:10329461-10329477 chr11:10329189-10329205 chr11:10329189-10329198
11	RCOR1	chr11:10328764-10329875	Hela-S3	cervix:	n/a	n/a
12	SIN3AK20	chr11:10328999-10329716	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr11:10329238-10329824	A549	lung:	n/a	chr11:10329744-10329757 chr11:10329490-10329511 chr11:10329495-10329513 chr11:10329496-10329512 chr11:10329497-10329510
14	MAX	chr11:10328758-10329963	H1-hESC	embryonic stem cell:	n/a	chr11:10329125-10329138 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10329353-10329363 chr11:10329122-10329141
15	TCF12	chr11:10328619-10330171	A549	lung:	n/a	n/a
16	MYC	chr11:10329673-10329770	K562	blood:	n/a	n/a
17	USF2	chr11:10328879-10331566	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr11:10328553-10330015	ECC-1	luminal epithelium:	n/a	chr11:10329125-10329138 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10329353-10329363 chr11:10329122-10329141
19	JUND	chr11:10329365-10329846	HepG2	liver:	n/a	chr11:10329473-10329484 chr11:10329705-10329717 chr11:10329705-10329716 chr11:10329706-10329716 chr11:10329707-10329715 chr11:10329706-10329716 chr11:10329706-10329716
20	TBP	chr11:10328787-10329895	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr11:10329006-10329868	A549	lung:	n/a	chr11:10329248-10329257 chr11:10329248-10329257 chr11:10329248-10329257 chr11:10329248-10329257 chr11:10329246-10329257
22	MYC	chr11:10329424-10329908	HUVEC	blood vessel:	n/a	n/a
23	MAZ	chr11:10329218-10329866	HepG2	liver:	n/a	chr11:10329353-10329363
24	RAD21	chr11:10329093-10329885	HepG2	liver:	n/a	chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512
25	CTCF	chr11:10329631-10329823	SK-N-SH_RA	brain:	n/a	chr11:10329744-10329757
26	ATF2	chr11:10329406-10329947	GM12878	blood:	n/a	n/a
27	CTCF	chr11:10329337-10329863	GM19240	blood:	n/a	chr11:10329744-10329757 chr11:10329490-10329511 chr11:10329495-10329513 chr11:10329496-10329512 chr11:10329497-10329510
28	JUND	chr11:10323956-10331669	HCT-116	colon:	n/a	chr11:10326447-10326456 chr11:10331225-10331234 chr11:10326563-10326572 chr11:10331227-10331234 chr11:10324905-10324915 chr11:10329473-10329484 chr11:10331226-10331235 chr11:10329705-10329717 chr11:10329705-10329716 chr11:10331226-10331234 chr11:10329706-10329716 chr11:10330671-10330679 chr11:10329707-10329715 chr11:10329706-10329716 chr11:10329706-10329716 chr11:10331224-10331235
29	MAX	chr11:10329315-10329958	K562	blood:	n/a	chr11:10329353-10329363
30	CTCF	chr11:10329685-10329810	GM20000	blood:	n/a	chr11:10329744-10329757
31	CTCF	chr11:10329283-10329755	MCF-7	breast:	n/a	chr11:10329490-10329511 chr11:10329495-10329513 chr11:10329496-10329512 chr11:10329497-10329510
32	TBP	chr11:10329323-10329829	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:10328876-10329861	A549	lung:	n/a	n/a
34	ZBTB33	chr11:10328758-10329867	A549	lung:	n/a	n/a
35	SIN3AK20	chr11:10328196-10330113	HCT-116	colon:	n/a	n/a
36	RAD21	chr11:10329175-10329979	A549	lung:	n/a	chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512
37	EP300	chr11:10329244-10330124	SK-N-SH	brain:	n/a	chr11:10329713-10329729 chr11:10329461-10329477
38	RCOR1	chr11:10329259-10329965	HepG2	liver:	n/a	n/a
39	TAF7	chr11:10324386-10331444	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr11:10329301-10329800	K562	blood:	n/a	n/a
41	SP1	chr11:10328641-10330146	HCT-116	colon:	n/a	n/a
42	TCF3	chr11:10329619-10329817	GM12878	blood:	n/a	n/a
43	RAD21	chr11:10328713-10330172	HCT-116	colon:	n/a	chr11:10329056-10329070 chr11:10329497-10329507 chr11:10329497-10329511 chr11:10329493-10329512
44	HEY1	chr11:10325910-10331758	HepG2	liver:	n/a	chr11:10327166-10327181 chr11:10329744-10329759 chr11:10326566-10326581 chr11:10329041-10329056
45	FOS	chr11:10329267-10329875	MCF10A-Er-Src	breast:	n/a	chr11:10329473-10329484 chr11:10329705-10329717 chr11:10329705-10329716 chr11:10329706-10329716 chr11:10329707-10329715 chr11:10329706-10329716 chr11:10329706-10329716
46	PBX3	chr11:10329406-10329976	SK-N-SH	brain:	n/a	n/a
47	ELF1	chr11:10328857-10329963	GM12878	blood:	n/a	chr11:10329023-10329032
48	FOSL1	chr11:10329463-10329896	K562	blood:	n/a	chr11:10329473-10329484 chr11:10329705-10329717 chr11:10329706-10329716 chr11:10329705-10329716 chr11:10329707-10329715 chr11:10329706-10329716 chr11:10329706-10329716
49	MYC	chr11:10328684-10329810	MCF10A-Er-Src	breast:	n/a	chr11:10329125-10329138 chr11:10329127-10329134 chr11:10329125-10329138 chr11:10329125-10329138 chr11:10329353-10329363 chr11:10329122-10329141
50	JUND	chr11:10329236-10329965	H1-hESC	embryonic stem cell:	n/a	chr11:10329473-10329484 chr11:10329705-10329717 chr11:10329705-10329716 chr11:10329706-10329716 chr11:10329707-10329715 chr11:10329706-10329716 chr11:10329706-10329716

No.	Distal block	Cell Line	Cell type
1	chr11:10329597..10330395-chr12:80084480..80085362,2	Hela-S3	cervix:
2	chr11:10314422..10317147-chr11:10327890..10331590,5	MCF-7	breast:
3	chr11:9596850..9599628-chr11:10329310..10331865,2	MCF-7	breast:
4	chr11:10329064..10329854-chr3:195808530..195809152,2	Hela-S3	cervix:
5	chr11:10327968..10329766-chr11:10387274..10390130,2	K562	blood:
6	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:
7	chr11:10203351..10204041-chr11:10328716..10329800,3	MCF-7	breast:
8	chr11:10229196..10230420-chr11:10329036..10329749,4	K562	blood:
9	chr11:9807314..9809632-chr11:10328158..10330110,2	K562	blood:
10	chr11:10012620..10013540-chr11:10329095..10329739,2	MCF-7	breast:
11	chr1:59249510..59250133-chr11:10329165..10329834,2	Hela-S3	cervix:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000254554	TF binding region
ENSG00000177425	Chromatin interaction
ENSG00000245522	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000238387	Chromatin interaction
ENSG00000246273	Chromatin interaction
ENSG00000133812	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10840370	1.00[CEU][hapmap]
rs11042630	0.83[EUR][1000 genomes]
rs11042634	0.83[EUR][1000 genomes]
rs11042635	0.83[EUR][1000 genomes]
rs11042639	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs11042645	0.88[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs11042647	0.83[EUR][1000 genomes]
rs11042669	1.00[CEU][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes]
rs11042718	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11530492	0.83[EUR][1000 genomes]
rs12575719	1.00[CEU][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap]
rs1372807	0.82[JPT][hapmap]
rs1442732	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs2923126	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59757006	0.83[EUR][1000 genomes]
rs7938788	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10323200-10329800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr11:10323200-10330200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:10323600-10330000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:10323800-10330000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr11:10323800-10330000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
6	chr11:10323800-10330200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:10324000-10329800	Active TSS	Aorta	Aorta
8	chr11:10324000-10330000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
9	chr11:10324000-10330000	Active TSS	Psoas Muscle	Psoas
10	chr11:10324000-10330200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr11:10324200-10329800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr11:10324200-10329800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:10324200-10329800	Active TSS	Gastric	stomach
14	chr11:10324400-10329800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:10324600-10329800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:10324800-10330000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr11:10325400-10329800	Active TSS	HSMMtube	muscle
18	chr11:10325600-10330000	Active TSS	Right Atrium	heart
19	chr11:10326000-10330000	Active TSS	Ovary	ovary
20	chr11:10326200-10329800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:10326600-10329800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:10326600-10329800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:10326600-10330400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:10326800-10330000	Bivalent Enhancer	Fetal Brain Male	brain
25	chr11:10326800-10330400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:10326800-10330400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
27	chr11:10326800-10330800	Transcr. at gene 5' and 3'	NHLF	lung
28	chr11:10327200-10329800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:10327200-10330000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:10327400-10330400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr11:10327800-10330000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr11:10327800-10330000	Active TSS	Lung	lung
33	chr11:10328000-10329800	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:10328000-10330000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:10328000-10331000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:10328200-10329800	Active TSS	Esophagus	oesophagus
37	chr11:10328200-10330000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:10328400-10329800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr11:10328400-10330000	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr11:10328400-10330000	Active TSS	Small Intestine	intestine
41	chr11:10328400-10330200	Active TSS	Right Ventricle	heart
42	chr11:10328600-10329800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:10328600-10329800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr11:10328600-10329800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:10328600-10329800	Active TSS	Brain Anterior Caudate	brain
46	chr11:10328600-10329800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr11:10328600-10329800	Active TSS	NH-A	brain
48	chr11:10328600-10330000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:10328600-10330000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr11:10328600-10330000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links