Variant report

Variant	rs4910499
Chromosome Location	chr11:9779277-9779278
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	RELA	chr11:9779033-9780278	GM12891	blood:	n/a	chr11:9779205-9779214 chr11:9779205-9779214
2	ZNF143	chr11:9779015-9779288	GM12878	blood:	n/a	chr11:9779152-9779167
3	POLR2A	chr11:9776527-9782028	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr11:9778827-9782252	U87	brain:	n/a	n/a
5	JUND	chr11:9779222-9782364	SK-N-SH	brain:	n/a	chr11:9781419-9781427 chr11:9781316-9781324 chr11:9781500-9781512 chr11:9781503-9781510 chr11:9781501-9781510 chr11:9781498-9781509 chr11:9781502-9781511 chr11:9781420-9781427 chr11:9781419-9781427 chr11:9781500-9781511 chr11:9781501-9781511 chr11:9779717-9779726 chr11:9781415-9781426
6	POLR2A	chr11:9778706-9779287	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:9779220-9780709	PFSK-1	brain:	n/a	n/a
8	RUNX3	chr11:9779251-9779951	GM12878	blood:	n/a	n/a
9	MXI1	chr11:9779263-9782690	IMR90	lung:	n/a	n/a
10	MAX	chr11:9779083-9782036	A549	lung:	n/a	chr11:9780798-9780808 chr11:9779083-9779094 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
11	POLR2A	chr11:9779268-9781715	HUVEC	blood vessel:	n/a	n/a
12	PML	chr11:9779265-9780686	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:9779255-9782252	U87	brain:	n/a	n/a
14	MAX	chr11:9779097-9781722	NB4	blood:	n/a	chr11:9780798-9780808 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
15	CTCF	chr11:9778273-9781596	A549	lung:	n/a	chr11:9779809-9779830 chr11:9779810-9779823 chr11:9779744-9779757 chr11:9781171-9781184 chr11:9778576-9778589 chr11:9779807-9779825 chr11:9780473-9780486 chr11:9780203-9780216
16	SMC3	chr11:9779047-9782466	SK-N-SH	brain:	n/a	chr11:9780200-9780210 chr11:9779809-9779823 chr11:9779813-9779823
17	STAT5A	chr11:9779267-9779833	GM12878	blood:	n/a	chr11:9779700-9779707
18	MTA3	chr11:9779235-9780312	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:9775144-9782147	PANC-1	pancreas:	n/a	n/a
20	BCL3	chr11:9779174-9780784	A549	lung:	n/a	n/a
21	E2F6	chr11:9779270-9780716	H1-hESC	embryonic stem cell:	n/a	chr11:9780198-9780207 chr11:9780200-9780210 chr11:9779718-9779727 chr11:9779764-9779773 chr11:9780172-9780183
22	GATA3	chr11:9779271-9781916	A549	lung:	n/a	chr11:9779291-9779307 chr11:9779288-9779309 chr11:9781500-9781509
23	MAX	chr11:9779168-9781971	A549	lung:	n/a	chr11:9780798-9780808 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
24	RAD21	chr11:9778829-9782264	SK-N-SH	brain:	n/a	chr11:9779813-9779823 chr11:9780472-9780486 chr11:9779808-9779827 chr11:9780523-9780536 chr11:9781753-9781766
25	ATF2	chr11:9779228-9779803	GM12878	blood:	n/a	n/a
26	MYC	chr11:9779059-9782093	NB4	blood:	n/a	chr11:9780798-9780808 chr11:9779083-9779094 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
27	RELA	chr11:9779071-9780212	GM19099	blood:	n/a	chr11:9779205-9779214 chr11:9779205-9779214
28	EP300	chr11:9779192-9779808	A549	lung:	n/a	chr11:9779762-9779778 chr11:9779199-9779206
29	POLR2A	chr11:9779263-9780622	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr11:9779264-9782104	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr11:9779212-9781958	HCT-116	colon:	n/a	chr11:9780798-9780808 chr11:9781443-9781454 chr11:9781442-9781455 chr11:9781444-9781453 chr11:9781418-9781427 chr11:9781443-9781454
32	MAZ	chr11:9779244-9780595	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:9779230-9781718	HL-60	blood:	n/a	n/a
34	MXI1	chr11:9778746-9782283	SK-N-SH	brain:	n/a	n/a
35	E2F6	chr11:9779229-9780961	A549	lung:	n/a	chr11:9780198-9780207 chr11:9780200-9780210 chr11:9779718-9779727 chr11:9779764-9779773 chr11:9780172-9780183

No.	Distal block	Cell Line	Cell type
1	chr11:9773431..9776316-chr11:9777677..9779608,2	K562	blood:
2	chr11:9594244..9596039-chr11:9777459..9779743,2	MCF-7	breast:
3	chr11:9773431..9775372-chr11:9777677..9779638,2	K562	blood:
4	chr11:9777333..9782154-chr11:10324598..10331360,10	MCF-7	breast:
5	chr11:9481642..9483596-chr11:9779160..9782132,2	K562	blood:
6	chr11:9777757..9779600-chr11:10325814..10328384,2	MCF-7	breast:

Variant related genes	Relation type
SBF2-AS1	TF binding region
ENSG00000148926	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000254554	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000166483	Chromatin interaction
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1032550	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10743117	0.89[ASN][1000 genomes]
rs10743118	0.89[ASN][1000 genomes]
rs10770059	0.86[EUR][1000 genomes]
rs10840293	0.82[ASN][1000 genomes]
rs10840294	0.85[ASN][1000 genomes]
rs10840295	0.89[ASN][1000 genomes]
rs10840296	0.89[ASN][1000 genomes]
rs10840305	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs10840306	0.95[JPT][hapmap]
rs12788348	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs173396	0.91[ASN][1000 genomes]
rs1996794	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2649044	0.81[ASN][1000 genomes]
rs360136	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs360137	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs360139	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs360140	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs360153	0.87[ASN][1000 genomes]
rs360156	0.87[ASN][1000 genomes]
rs360157	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs373894	0.85[ASN][1000 genomes]
rs3751000	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs378825	0.87[ASN][1000 genomes]
rs415895	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs429835	0.89[JPT][hapmap]
rs436637	0.82[EUR][1000 genomes]
rs472109	0.90[ASN][1000 genomes]
rs4910063	1.00[JPT][hapmap]
rs4910498	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs491205	0.92[ASN][1000 genomes]
rs6483656	0.86[EUR][1000 genomes]
rs7126913	1.00[JPT][hapmap]
rs93138	0.91[ASN][1000 genomes]
rs93139	0.87[ASN][1000 genomes]
rs9943599	0.89[ASN][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
6	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9742200-9779400	Weak transcription	Fetal Brain Male	brain
2	chr11:9762400-9779400	Weak transcription	Liver	Liver
3	chr11:9762400-9779400	Weak transcription	Psoas Muscle	Psoas
4	chr11:9762800-9779400	Weak transcription	Fetal Brain Female	brain
5	chr11:9763600-9779400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:9770200-9779400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:9770200-9779400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:9770200-9779400	Weak transcription	Ovary	ovary
9	chr11:9770200-9779400	Weak transcription	Pancreas	Pancrea
10	chr11:9770200-9779600	Weak transcription	Small Intestine	intestine
11	chr11:9770400-9779400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:9772400-9779400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:9772400-9779400	Weak transcription	Gastric	stomach
14	chr11:9773800-9779400	Enhancers	HMEC	breast
15	chr11:9773800-9779800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:9774000-9779400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:9774000-9779400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:9774000-9779400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:9774000-9779400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:9774000-9779400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:9774000-9779400	Weak transcription	Aorta	Aorta
22	chr11:9774000-9779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:9774000-9779400	Weak transcription	Thymus	Thymus
24	chr11:9774600-9779400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:9774600-9779400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:9774600-9780000	Enhancers	HSMMtube	muscle
27	chr11:9774800-9779400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:9774800-9779400	Enhancers	Fetal Intestine Large	intestine
29	chr11:9775200-9779800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:9775800-9779400	Enhancers	HSMM	muscle
31	chr11:9776000-9779400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:9776000-9779400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:9776000-9780000	Enhancers	NHDF-Ad	bronchial
34	chr11:9776400-9779400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:9776400-9779400	Enhancers	GM12878-XiMat	blood
36	chr11:9776600-9779400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:9776600-9779400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:9776600-9779400	Weak transcription	Brain Angular Gyrus	brain
39	chr11:9776600-9779400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:9776600-9779400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:9776600-9779400	Weak transcription	Brain Substantia Nigra	brain
42	chr11:9776600-9779400	Enhancers	Fetal Thymus	thymus
43	chr11:9776800-9779400	Enhancers	Primary hematopoietic stem cells	blood
44	chr11:9777000-9779400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:9777000-9779400	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:9777000-9779400	Enhancers	Placenta	Placenta
47	chr11:9777000-9779400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr11:9777000-9779400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr11:9777200-9779400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:9777200-9779800	Enhancers	Spleen	Spleen

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