Variant report

Variant	rs11821081
Chromosome Location	chr11:64529934-64529935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64526823-64532053	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:64529610-64530850	HepG2	liver:	n/a	n/a
3	TCF12	chr11:64529635-64530898	A549	lung:	n/a	chr11:64530242-64530249 chr11:64529781-64529789 chr11:64530618-64530625
4	POLR2A	chr11:64529591-64531294	HCT-116	colon:	n/a	n/a
5	BACH1	chr11:64529866-64530895	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:64529658-64530049	A549	lung:	n/a	n/a
7	POLR2A	chr11:64529510-64532036	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:64529571-64530074	A549	lung:	n/a	n/a
9	POLR2A	chr11:64526696-64538505	K562	blood:	n/a	n/a
10	PML	chr11:64529783-64530008	GM12878	blood:	n/a	n/a
11	HEY1	chr11:64529630-64530017	HepG2	liver:	n/a	n/a
12	TCF12	chr11:64529683-64530011	HepG2	liver:	n/a	chr11:64529781-64529789
13	POLR2A	chr11:64529504-64531351	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:64525013-64542071	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:64529716-64530651	GM18951	blood:	n/a	n/a
16	CEBPZ	chr11:64529877-64530032	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:64528951-64531116	HUVEC	blood vessel:	n/a	n/a
18	BCL3	chr11:64529537-64530632	A549	lung:	n/a	chr11:64530279-64530288
19	POLR2A	chr11:64529630-64530115	A549	lung:	n/a	n/a
20	STAT5A	chr11:64529588-64531963	GM12878	blood:	n/a	chr11:64530097-64530120 chr11:64530553-64530565 chr11:64531636-64531644 chr11:64530050-64530062
21	TEAD4	chr11:64529729-64530376	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:64528801-64539251	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:64529075-64533137	GM12891	blood:	n/a	n/a
24	TEAD4	chr11:64529684-64530277	K562	blood:	n/a	n/a
25	USF2	chr11:64529822-64529968	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:64528697-64531974	HepG2	liver:	n/a	n/a
27	SIN3AK20	chr11:64529681-64529953	SK-N-SH	brain:	n/a	n/a
28	SP1	chr11:64529546-64529978	A549	lung:	n/a	n/a
29	SP4	chr11:64529806-64531148	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:64529563-64530373	U87	brain:	n/a	n/a
31	POLR2A	chr11:64529690-64530005	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr11:64528844-64531928	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:64527305-64538579	K562	blood:	n/a	n/a
34	JUN	chr11:64529760-64530360	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:64528860-64533465	PFSK-1	brain:	n/a	n/a
36	RUNX3	chr11:64529600-64530591	GM12878	blood:	n/a	n/a
37	POLR2A	chr11:64529394-64531410	GM12878	blood:	n/a	n/a
38	BCL3	chr11:64529642-64529994	K562	blood:	n/a	n/a
39	POLR2A	chr11:64528964-64532627	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:64529618-64532018	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr11:64529571-64531365	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr11:64529591-64530771	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr11:64529567-64532018	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:64529701-64531455	K562	blood:	n/a	n/a
45	MAX	chr11:64529861-64529935	HepG2	liver:	n/a	n/a
46	ATF2	chr11:64529683-64531029	H1-hESC	embryonic stem cell:	n/a	n/a
47	NFATC1	chr11:64529538-64531391	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:64529567-64531278	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr11:64525521-64533450	A549	lung:	n/a	n/a
50	POLR2A	chr11:64529553-64531970	GM12891	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64506462..64508935-chr11:64529623..64531962,2	MCF-7	breast:
2	chr11:64529809..64532784-chr22:39706393..39708721,2	K562	blood:
3	chr11:64502342..64504010-chr11:64527963..64530574,2	MCF-7	breast:
4	chr11:64507790..64516181-chr11:64524582..64537783,30	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R5B-6	chr11:64529676-64530646	NONHSAT022016

No data

Variant related genes	Relation type
PYGM	TF binding region
ENSG00000068831	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10466694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11231806	1.00[EUR][1000 genomes]
rs11231811	1.00[EUR][1000 genomes]
rs11231812	1.00[EUR][1000 genomes]
rs11231865	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11231866	1.00[EUR][1000 genomes]
rs11231892	1.00[MEX][hapmap]
rs1212539	1.00[EUR][1000 genomes]
rs1212851	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12273948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280878	1.00[TSI][hapmap]
rs12281931	1.00[EUR][1000 genomes]
rs12293573	1.00[EUR][1000 genomes]
rs12294207	1.00[MEX][hapmap]
rs17146100	1.00[EUR][1000 genomes]
rs17146110	1.00[EUR][1000 genomes]
rs17146119	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17159320	1.00[MEX][hapmap]
rs17159321	1.00[MEX][hapmap]
rs1787671	1.00[EUR][1000 genomes]
rs2022048	1.00[TSI][hapmap]
rs2022049	1.00[EUR][1000 genomes]
rs2518908	1.00[EUR][1000 genomes]
rs2666561	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2666562	1.00[EUR][1000 genomes]
rs2904961	1.00[EUR][1000 genomes]
rs2959651	1.00[EUR][1000 genomes]
rs3016758	1.00[EUR][1000 genomes]
rs41323046	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs475704	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs512926	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs516041	1.00[EUR][1000 genomes]
rs534052	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs534073	1.00[EUR][1000 genomes]
rs535606	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs541305	1.00[EUR][1000 genomes]
rs545167	1.00[EUR][1000 genomes]
rs545819	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs546323	1.00[EUR][1000 genomes]
rs547280	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs550930	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs553618	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs559095	1.00[EUR][1000 genomes]
rs559977	1.00[EUR][1000 genomes]
rs56186064	1.00[EUR][1000 genomes]
rs565688	1.00[EUR][1000 genomes]
rs573545	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs579175	1.00[EUR][1000 genomes]
rs58571986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6591863	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110778	1.00[EUR][1000 genomes]
rs7113097	1.00[EUR][1000 genomes]
rs7127435	1.00[EUR][1000 genomes]
rs73492139	1.00[EUR][1000 genomes]
rs73492140	1.00[EUR][1000 genomes]
rs73492144	1.00[EUR][1000 genomes]
rs73494206	1.00[EUR][1000 genomes]
rs7927181	1.00[TSI][hapmap]
rs7948607	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7948832	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9326433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9326434	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9666331	0.89[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
4	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
6	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
8	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
10	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
13	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
14	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
18	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
19	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64513400-64530000	Weak transcription	Aorta	Aorta
2	chr11:64524800-64530000	Strong transcription	Thymus	Thymus
3	chr11:64525000-64530000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:64525000-64530400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr11:64525200-64530000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:64525400-64533400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:64526000-64530400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr11:64526000-64530600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr11:64526200-64531200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:64526600-64530000	Enhancers	Primary T cells from cord blood	blood
11	chr11:64526600-64530200	Enhancers	Primary B cells from cord blood	blood
12	chr11:64526600-64530600	Enhancers	K562	blood
13	chr11:64527200-64530000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:64527200-64530000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:64527200-64532000	Weak transcription	Stomach Mucosa	stomach
16	chr11:64527400-64531000	Enhancers	Brain Anterior Caudate	brain
17	chr11:64527400-64531800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:64527400-64539600	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr11:64527600-64530000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:64527600-64531800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:64527600-64534600	Weak transcription	Fetal Brain Male	brain
22	chr11:64528000-64530000	Weak transcription	Fetal Intestine Large	intestine
23	chr11:64528000-64530000	Weak transcription	NH-A	brain
24	chr11:64528000-64530400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:64528000-64531200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:64528000-64532600	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr11:64528000-64532600	Genic enhancers	Fetal Muscle Leg	muscle
28	chr11:64528000-64536400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:64528200-64530000	Weak transcription	Brain Germinal Matrix	brain
30	chr11:64528200-64530200	Weak transcription	Colonic Mucosa	Colon
31	chr11:64528200-64533400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:64528200-64543600	Strong transcription	Fetal Intestine Small	intestine
33	chr11:64528400-64530000	Weak transcription	Right Atrium	heart
34	chr11:64528400-64530600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:64528400-64530600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:64528400-64530800	Weak transcription	HSMMtube	muscle
37	chr11:64528400-64531600	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr11:64528400-64531600	Weak transcription	HepG2	liver
39	chr11:64528600-64530400	Weak transcription	Hela-S3	cervix
40	chr11:64528600-64530600	Weak transcription	Psoas Muscle	Psoas
41	chr11:64528600-64531400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:64528800-64530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:64528800-64530800	Strong transcription	Fetal Stomach	stomach
44	chr11:64528800-64531800	Weak transcription	Small Intestine	intestine
45	chr11:64528800-64532200	Weak transcription	Ovary	ovary
46	chr11:64529000-64533400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:64529200-64531800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:64529400-64530200	Weak transcription	GM12878-XiMat	blood
49	chr11:64529400-64530400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr11:64529400-64531000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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