Variant report

Variant	rs11544832
Chromosome Location	chr11:66055685-66055686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:61)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66055270-66055918	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:66053955-66057415	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:66053948-66057304	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr11:66055436-66057438	HUVEC	blood vessel:	n/a	n/a
5	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
6	POLR2A	chr11:66055180-66057360	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:66055037-66055774	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:66055426-66056041	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr11:66055195-66057440	IMR90	lung:	n/a	n/a
10	POLR2A	chr11:66055568-66055873	K562	blood:	n/a	n/a
11	POLR2A	chr11:66055392-66055709	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr11:66055330-66057267	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:66055400-66057539	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr11:66055201-66057410	GM12878	blood:	n/a	n/a
16	RCOR1	chr11:66055391-66058178	IMR90	lung:	n/a	n/a
17	MAZ	chr11:66055268-66057739	IMR90	lung:	n/a	chr11:66057297-66057306 chr11:66057297-66057307 chr11:66056317-66056327 chr11:66057487-66057496 chr11:66057213-66057223
18	POLR2A	chr11:66055128-66055965	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr11:66054839-66057340	HL-60	blood:	n/a	n/a
20	POLR2A	chr11:66055102-66058883	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:66055360-66057395	U87	brain:	n/a	n/a
22	HCFC1	chr11:66054469-66058486	Hela-S3	cervix:	n/a	n/a
23	MTA3	chr11:66055148-66056772	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:66055521-66055696	A549	lung:	n/a	n/a
25	POLR2A	chr11:66055631-66055974	HUVEC	blood vessel:	n/a	n/a
26	JUN	chr11:66055447-66057589	K562	blood:	n/a	chr11:66057488-66057496 chr11:66057489-66057496 chr11:66057154-66057163 chr11:66057488-66057496 chr11:66057487-66057497
27	POLR2A	chr11:66055381-66055874	MCF-7	breast:	n/a	n/a
28	POLR2A	chr11:66055298-66055759	A549	lung:	n/a	n/a
29	POLR2A	chr11:66055403-66055830	U87	brain:	n/a	n/a
30	POLR2A	chr11:66054796-66057408	K562	blood:	n/a	n/a
31	POLR2A	chr11:66055262-66058392	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:66055333-66055925	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:66055138-66055958	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:66055148-66057250	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:66055435-66057183	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:66055386-66055879	GM12878	blood:	n/a	n/a
37	MXI1	chr11:66055563-66057618	IMR90	lung:	n/a	n/a
38	POLR2A	chr11:66055249-66057568	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66055683-66055733	LNCaP	prostate:	n/a
2	chr11:66055683-66055733	HAEpiC	amniotic membrane:	n/a
3	chr11:66055683-66055733	PrEC	prostate:	n/a
4	chr11:66055683-66055733	ovcar-3	ovarian:	n/a
5	chr11:66055683-66055733	GM06990	blood:	n/a
6	chr11:66055683-66055733	HIPEpiC	eye:	n/a
7	chr11:66055683-66055733	AG10803	skin:	n/a
8	chr11:66055683-66055733	NH-A	brain:	n/a
9	chr11:66055683-66055733	HRPEpiC	eye:	n/a
10	chr11:66055683-66055733	Hepatocyte	liver:	n/a
11	chr11:66055683-66055733	HUVEC	blood vessel:	n/a
12	chr11:66055683-66055733	HNPCEpiC	eye:	n/a
13	chr11:66055683-66055733	AG04450	lung:	fetal
14	chr11:66055683-66055733	AG04449	skin:	fetal
15	chr11:66055683-66055733	SKMC	muscle:	n/a
16	chr11:66055683-66055733	AG09309	skin:	n/a
17	chr11:66055683-66055733	AG09319	gingival:	n/a
18	chr11:66055683-66055733	HPAEpiC	pulmonary alveolar:	n/a
19	chr11:66055683-66055733	ProgFib	skin:	n/a
20	chr11:66055683-66055733	HCT-116	colon:	n/a
21	chr11:66055683-66055733	Caco-2	colon:	n/a
22	chr11:66055683-66055733	MCF-7	breast:	n/a
23	chr11:66055683-66055733	GM19239	blood:	n/a
24	chr11:66055683-66055733	GM12891	blood:	n/a
25	chr11:66055683-66055733	RPTEC	kidney:	n/a
26	chr11:66055683-66055733	HCPEpiC	choroid plexus:	n/a
27	chr11:66055683-66055733	HRCEpiC	kidney:	n/a
28	chr11:66055683-66055733	NHBE	bronchial:	n/a
29	chr11:66055683-66055733	AoSMC	blood vessel:	n/a
30	chr11:66055683-66055733	Jurkat	blood:	n/a
31	chr11:66055683-66055733	SK-N-SH_RA	brain:	n/a
32	chr11:66055683-66055733	U87	brain:	n/a
33	chr11:66055683-66055733	Hela-S3	cervix:	n/a
34	chr11:66055683-66055733	HCM	heart:	n/a
35	chr11:66055683-66055733	NT2-D1	testis:	n/a
36	chr11:66055683-66055733	HMEC	breast:	n/a
37	chr11:66055683-66055733	HepG2	liver:	n/a
38	chr11:66055683-66055733	NB4	blood:	n/a
39	chr11:66055683-66055733	SK-N-MC	brain:	n/a
40	chr11:66055683-66055733	HEK293	kidney:	embryo
41	chr11:66055683-66055733	BE2_C	brain:	n/a
42	chr11:66055683-66055733	CMK	blood:	n/a
43	chr11:66055683-66055733	HRE	kidney:	n/a
44	chr11:66055683-66055733	T-47D	breast:	n/a
45	chr11:66055683-66055733	SK-N-SH	brain:	n/a
46	chr11:66055683-66055733	H1-hESC	embryonic stem cell:	embryo
47	chr11:66055683-66055733	HEEpiC	esophagus:	n/a
48	chr11:66055683-66055733	HCF	heart:	n/a
49	chr11:66055683-66055733	NHDF-neo	bronchial:	n/a
50	chr11:66055683-66055733	GM12892	blood:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:
2	chr11:66055638..66057992-chr11:66113909..66116651,3	K562	blood:
3	chr11:65265719..65267339-chr11:66055130..66057723,2	K562	blood:
4	chr11:66023140..66025945-chr11:66052736..66056629,3	MCF-7	breast:
5	chr11:66054499..66057435-chr11:66115136..66117035,2	MCF-7	breast:
6	chr11:66054859..66059696-chr11:66135983..66141726,7	K562	blood:
7	chr11:66054488..66057665-chr11:66080176..66082833,4	K562	blood:
8	chr11:66055270..66057597-chr11:66112530..66115409,2	K562	blood:
9	chr11:66053447..66056540-chr11:66100445..66105768,7	MCF-7	breast:
10	chr11:66055291..66058281-chr11:66079576..66082924,5	MCF-7	breast:
11	chr11:66055397..66059696-chr11:66135983..66139913,5	K562	blood:
12	chr11:66055249..66056927-chr16:89752063..89753565,2	MCF-7	breast:
13	chr11:66055492..66057185-chr11:66510556..66513409,3	K562	blood:
14	chr11:66054909..66058395-chr11:66084021..66087571,3	K562	blood:
15	chr11:66054433..66056920-chr11:66384363..66386136,2	K562	blood:
16	chr11:66052361..66057023-chr11:66137906..66140994,4	MCF-7	breast:
17	chr11:66025864..66027446-chr11:66054760..66056847,2	MCF-7	breast:
18	chr11:66054900..66056693-chr11:66099016..66101180,2	K562	blood:
19	chr11:66041439..66043181-chr11:66053492..66056458,2	MCF-7	breast:
20	chr11:66054404..66057808-chr11:66078165..66081775,4	MCF-7	breast:
21	chr11:66054162..66056937-chr11:66109546..66111530,2	K562	blood:
22	chr11:65625599..65627439-chr11:66053239..66055711,2	K562	blood:
23	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:
24	chr11:66054081..66055900-chr11:66092894..66095581,2	MCF-7	breast:
25	chr11:66028824..66031136-chr11:66055300..66057117,2	MCF-7	breast:
26	chr11:66055597..66057691-chr11:66102656..66105498,2	K562	blood:

No data

Variant related genes	Relation type
TMEM151A	TF binding region
YIF1A	TF binding region
TMEM151A	CpG island
YIF1A	CpG island
ENSG00000255468	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000254461	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000254756	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000260259	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000185324	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000174684	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11823756	1.00[CHD][hapmap]
rs11825510	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12798852	1.00[LWK][hapmap]
rs17494956	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs34837704	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs555826	1.00[CHD][hapmap]
rs7110351	1.00[CHD][hapmap]
rs7932272	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 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	chr11:66054200-66056000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:66054200-66056000	Enhancers	Spleen	Spleen
3	chr11:66054400-66055800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:66054600-66055800	Enhancers	Gastric	stomach
5	chr11:66054800-66055800	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:66054800-66055800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:66054800-66055800	Enhancers	Fetal Brain Male	brain
8	chr11:66054800-66056000	Flanking Active TSS	Osteobl	bone
9	chr11:66054800-66056200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:66055000-66055800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr11:66055000-66055800	Enhancers	Ovary	ovary
12	chr11:66055200-66055800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:66055200-66055800	Enhancers	Primary B cells from cord blood	blood
14	chr11:66055200-66055800	Enhancers	Primary T cells from cord blood	blood
15	chr11:66055200-66055800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr11:66055200-66055800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:66055200-66055800	Enhancers	Fetal Heart	heart
18	chr11:66055200-66055800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:66055200-66055800	Flanking Active TSS	A549	lung
20	chr11:66055200-66055800	Flanking Active TSS	HSMM	muscle
21	chr11:66055200-66055800	Transcr. at gene 5' and 3'	NHLF	lung
22	chr11:66055200-66056000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:66055200-66056000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:66055200-66056000	Enhancers	Small Intestine	intestine
25	chr11:66055200-66056000	Flanking Active TSS	Dnd41	blood
26	chr11:66055200-66056200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr11:66055200-66056200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:66055200-66056200	Flanking Active TSS	Brain Germinal Matrix	brain
29	chr11:66055200-66056200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:66055200-66056200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr11:66055200-66056200	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr11:66055200-66056200	Flanking Active TSS	Hela-S3	cervix
33	chr11:66055200-66056400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:66055200-66056400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr11:66055400-66055800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:66055400-66055800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr11:66055400-66055800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:66055400-66055800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:66055400-66055800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr11:66055400-66055800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr11:66055400-66055800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:66055400-66055800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:66055400-66055800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr11:66055400-66055800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:66055400-66055800	Enhancers	Esophagus	oesophagus
46	chr11:66055400-66055800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
47	chr11:66055400-66055800	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr11:66055400-66055800	Enhancers	Thymus	Thymus
49	chr11:66055400-66055800	Flanking Active TSS	GM12878-XiMat	blood
50	chr11:66055400-66056000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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