Variant report

Variant	rs1048924
Chromosome Location	chr11:65658157-65658158
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:442)
CpG islands
(count:0)
Chromatin interactive
region (count:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65657750-65661000	K562	blood:	n/a	n/a
2	TEAD4	chr11:65657692-65659254	SK-N-SH	brain:	n/a	n/a
3	MAX	chr11:65657877-65658576	HepG2	liver:	n/a	chr11:65658152-65658161 chr11:65658196-65658205
4	POLR2A	chr11:65657347-65660286	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr11:65657618-65659903	HCT-116	colon:	n/a	n/a
6	TAF1	chr11:65657852-65658948	HepG2	liver:	n/a	n/a
7	STAT1	chr11:65657806-65658260	GM12878	blood:	n/a	n/a
8	REST	chr11:65658020-65658315	SK-N-SH	brain:	n/a	n/a
9	E2F6	chr11:65657898-65658629	K562	blood:	n/a	n/a
10	TAF1	chr11:65657831-65659679	K562	blood:	n/a	n/a
11	POLR2A	chr11:65657492-65660848	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:65657792-65658516	GM10847	blood:	n/a	n/a
13	MAX	chr11:65657782-65658762	SK-N-SH	brain:	n/a	chr11:65658152-65658161 chr11:65658196-65658205
14	BHLHE40	chr11:65657762-65658599	K562	blood:	n/a	n/a
15	TAF1	chr11:65657907-65658371	H1-hESC	embryonic stem cell:	n/a	n/a
16	ZBTB33	chr11:65657704-65658317	HCT-116	colon:	n/a	n/a
17	JUND	chr11:65657759-65658304	K562	blood:	n/a	chr11:65657994-65658003
18	POLR2A	chr11:65657837-65658549	Gliobla	brain:	n/a	n/a
19	POLR2A	chr11:65657769-65660331	K562	blood:	n/a	n/a
20	ELF1	chr11:65657929-65658292	HepG2	liver:	n/a	n/a
21	TAL1	chr11:65658096-65659620	K562	blood:	n/a	n/a
22	POLR2A	chr11:65657958-65658699	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:65657949-65658947	MCF10A-Er-Src	breast:	n/a	n/a
24	SP1	chr11:65657661-65658268	GM12878	blood:	n/a	chr11:65658016-65658030 chr11:65657791-65657805 chr11:65658016-65658026 chr11:65658015-65658027 chr11:65658016-65658025 chr11:65658021-65658028 chr11:65658015-65658027 chr11:65658017-65658026 chr11:65657978-65657989 chr11:65658016-65658026 chr11:65658016-65658025
25	POLR2A	chr11:65654632-65669034	U87	brain:	n/a	n/a
26	POLR2A	chr11:65657733-65661893	SK-N-MC	brain:	n/a	n/a
27	RFX5	chr11:65657886-65658212	K562	blood:	n/a	n/a
28	POLR2A	chr11:65657708-65658388	HepG2	liver:	n/a	n/a
29	ARID3A	chr11:65657396-65658160	HepG2	liver:	n/a	n/a
30	PBX3	chr11:65657625-65660136	A549	lung:	n/a	n/a
31	UBTF	chr11:65657777-65659843	K562	blood:	n/a	n/a
32	POLR2A	chr11:65657516-65662050	K562	blood:	n/a	n/a
33	RCOR1	chr11:65657752-65658347	GM12878	blood:	n/a	n/a
34	TCF12	chr11:65657529-65658403	ECC-1	luminal epithelium:	n/a	n/a
35	CREB1	chr11:65657568-65659759	K562	blood:	n/a	n/a
36	POLR2A	chr11:65657936-65661092	Hela-S3	cervix:	n/a	n/a
37	REST	chr11:65657999-65658374	SK-N-SH	brain:	n/a	n/a
38	FOXP2	chr11:65657846-65658686	PFSK-1	brain:	n/a	n/a
39	RUNX3	chr11:65657619-65658687	GM12878	blood:	n/a	n/a
40	CEBPD	chr11:65658039-65658292	HepG2	liver:	n/a	n/a
41	TEAD4	chr11:65657676-65659626	SK-N-SH	brain:	n/a	n/a
42	BACH1	chr11:65657862-65658203	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:65657847-65658687	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr11:65658000-65658448	ECC-1	luminal epithelium:	n/a	chr11:65658152-65658166 chr11:65658295-65658307
45	STAT5A	chr11:65658103-65658359	GM12878	blood:	n/a	n/a
46	BRCA1	chr11:65658149-65658325	HepG2	liver:	n/a	n/a
47	REST	chr11:65657849-65658427	PFSK-1	brain:	n/a	n/a
48	TCF12	chr11:65657833-65658691	ECC-1	luminal epithelium:	n/a	n/a
49	ELF1	chr11:65657616-65658642	GM12878	blood:	n/a	n/a
50	UBTF	chr11:65657784-65658808	K562	blood:	n/a	n/a

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65336026..65338505-chr11:65655594..65658699,3	MCF-7	breast:
2	chr11:65657906..65658479-chr5:111498817..111499317,2	NB4	blood:
3	chr11:65657107..65659864-chr11:66036057..66038289,3	MCF-7	breast:
4	chr11:65657907..65658407-chr3:122101750..122102398,2	NB4	blood:
5	chr11:65657880..65658782-chr19:41768384..41768906,2	Hela-S3	cervix:
6	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
7	chr11:65658040..65658608-chr16:30969483..30970474,2	Hela-S3	cervix:
8	chr11:65428955..65432251-chr11:65654758..65658672,5	K562	blood:
9	chr1:27669374..27669999-chr11:65657851..65658423,2	NB4	blood:
10	chr11:65382961..65385315-chr11:65657365..65660183,3	K562	blood:
11	chr11:65551697..65554555-chr11:65655334..65658299,2	K562	blood:
12	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
13	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
14	chr11:65657578..65659583-chr12:120728945..120731288,2	K562	blood:
15	chr11:65658134..65659956-chr11:66102829..66104938,2	K562	blood:
16	chr11:65657179..65659552-chr11:65792099..65795097,2	MCF-7	breast:
17	chr1:8929360..8931517-chr11:65656879..65659148,2	K562	blood:
18	chr11:65657816..65658642-chr7:100770309..100771180,2	Hela-S3	cervix:
19	chr11:65546319..65548897-chr11:65656816..65659739,4	K562	blood:
20	chr11:65383055..65385315-chr11:65656769..65659288,2	K562	blood:
21	chr11:65656399..65658937-chr11:66080213..66082790,2	K562	blood:
22	chr11:65656381..65659645-chr11:65787840..65790125,3	K562	blood:
23	chr1:21112757..21113745-chr11:65657938..65658463,2	Hela-S3	cervix:
24	chr11:65429654..65431219-chr11:65656697..65658398,2	MCF-7	breast:
25	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
26	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
27	chr11:65493436..65495930-chr11:65657867..65659544,2	K562	blood:
28	chr11:65657658..65658477-chr2:220025004..220025622,2	NB4	blood:
29	chr11:65492420..65494936-chr11:65657867..65659851,2	K562	blood:
30	chr11:65657930..65659492-chr11:65811101..65813091,2	K562	blood:
31	chr11:65145713..65148511-chr11:65656640..65659365,2	MCF-7	breast:
32	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
33	chr11:65655875..65658695-chr11:66035091..66037770,2	MCF-7	breast:
34	chr11:65657901..65658652-chr11:65756432..65756981,2	MCF-7	breast:
35	chr11:65656005..65658506-chr11:65823963..65825663,2	MCF-7	breast:
36	chr11:65657743..65658556-chr11:67236340..67237166,2	Hela-S3	cervix:
37	chr11:65657243..65659691-chr11:65793625..65795769,2	K562	blood:
38	chr11:65485673..65489789-chr11:65654054..65658887,6	K562	blood:
39	chr11:65657526..65660220-chr11:65812973..65815737,3	MCF-7	breast:
40	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
41	chr11:2421877..2422431-chr11:65657646..65658565,2	Hela-S3	cervix:
42	chr11:65658032..65658702-chr21:46702712..46703212,2	Hela-S3	cervix:
43	chr11:65657946..65658448-chr6:8064132..8064975,2	NB4	blood:
44	chr11:65656060..65659299-chr11:65825283..65827500,3	K562	blood:
45	chr11:65544303..65548645-chr11:65657766..65659706,5	K562	blood:
46	chr11:65657808..65658800-chr2:198364320..198364841,2	HCT-116	colon:
47	chr11:65656719..65659047-chr11:65835301..65837715,2	MCF-7	breast:
48	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

No data

Variant related genes	Relation type
FIBP	TF binding region
ENSG00000254762	Chromatin interaction
ENSG00000172543	Chromatin interaction
ENSG00000127483	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000162241	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000184281	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000105323	Chromatin interaction
ENSG00000106366	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000160124	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000074800	Chromatin interaction
ENSG00000214659	Chromatin interaction
ENSG00000188428	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000259040	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000187736	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000115541	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000144381	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000142765	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000254458	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10896054	1.00[EUR][1000 genomes]
rs1151520	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12275175	1.00[EUR][1000 genomes]
rs12283972	1.00[EUR][1000 genomes]
rs12294096	1.00[EUR][1000 genomes]
rs12294241	1.00[EUR][1000 genomes]
rs12294549	1.00[EUR][1000 genomes]
rs1647569	1.00[EUR][1000 genomes]
rs34035680	1.00[EUR][1000 genomes]
rs35194319	1.00[EUR][1000 genomes]
rs500667	1.00[EUR][1000 genomes]
rs508328	1.00[EUR][1000 genomes]
rs516889	1.00[AMR][1000 genomes]
rs548709	1.00[EUR][1000 genomes]
rs551115	1.00[EUR][1000 genomes]
rs551986	1.00[EUR][1000 genomes]
rs558167	1.00[AMR][1000 genomes]
rs56663613	1.00[EUR][1000 genomes]
rs56990327	1.00[EUR][1000 genomes]
rs601314	1.00[EUR][1000 genomes]
rs604630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs613953	1.00[EUR][1000 genomes]
rs614330	1.00[EUR][1000 genomes]
rs641323	1.00[EUR][1000 genomes]
rs669300	1.00[EUR][1000 genomes]
rs7115662	1.00[EUR][1000 genomes]
rs7124858	1.00[EUR][1000 genomes]
rs73492420	1.00[EUR][1000 genomes]
rs73492424	1.00[EUR][1000 genomes]
rs73492432	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	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
12	nsv530622	chr11:65649068-65661361	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1048924	ENSG00000175602	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65655000-65660200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr11:65655000-65662200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:65655200-65658200	Active TSS	Aorta	Aorta
4	chr11:65656200-65658600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:65656200-65659600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr11:65656200-65659600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr11:65656200-65659600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr11:65656200-65659800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:65656200-65660000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr11:65656200-65660200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr11:65656200-65660200	Flanking Active TSS	Dnd41	blood
12	chr11:65656200-65660800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:65656200-65662200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:65656400-65658200	Weak transcription	Gastric	stomach
15	chr11:65656600-65658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:65656600-65658200	Weak transcription	Ovary	ovary
17	chr11:65657600-65658600	Active TSS	Brain Germinal Matrix	brain
18	chr11:65657600-65659000	Flanking Active TSS	Liver	Liver
19	chr11:65657600-65659200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:65657600-65659400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr11:65657800-65658200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:65657800-65658200	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:65657800-65658200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:65657800-65658200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:65657800-65658200	Active TSS	Colonic Mucosa	Colon
26	chr11:65657800-65658200	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr11:65657800-65658200	Weak transcription	Small Intestine	intestine
28	chr11:65657800-65658400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:65657800-65658600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr11:65657800-65658600	Active TSS	Fetal Brain Female	brain
31	chr11:65657800-65658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:65657800-65658800	Active TSS	Brain Cingulate Gyrus	brain
33	chr11:65657800-65658800	Active TSS	Esophagus	oesophagus
34	chr11:65657800-65658800	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr11:65657800-65658800	Active TSS	Spleen	Spleen
36	chr11:65657800-65658800	Active TSS	NHLF	lung
37	chr11:65657800-65659000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:65657800-65659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:65657800-65659000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:65657800-65659000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:65657800-65659000	Active TSS	Thymus	Thymus
42	chr11:65657800-65659200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:65657800-65659200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr11:65657800-65659200	Flanking Active TSS	Pancreas	Pancrea
45	chr11:65657800-65659400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:65657800-65659400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:65657800-65659400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:65657800-65659400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:65657800-65659400	Active TSS	Colon Smooth Muscle	Colon
50	chr11:65657800-65659400	Enhancers	Fetal Heart	heart

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