Variant report

Variant	rs2282568
Chromosome Location	chr11:66052832-66052833
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66051951-66053668	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:66052828-66052966	A549	lung:	n/a	n/a
3	POLR2A	chr11:66052223-66053632	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:66052623-66052875	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:66052124-66053480	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:66051784-66053107	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:66051387-66053893	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr11:66051365-66053687	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr11:66052030-66053761	K562	blood:	n/a	n/a
10	POLR2A	chr11:66052769-66052987	A549	lung:	n/a	n/a
11	POLR2A	chr11:66052811-66053774	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:66052577-66053070	K562	blood:	n/a	n/a
13	POLR2A	chr11:66052715-66053631	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65987811..65990997-chr11:66051307..66054931,3	MCF-7	breast:
2	chr11:66052249..66054204-chr11:66103456..66106375,2	K562	blood:
3	chr11:66023140..66025945-chr11:66052736..66056629,3	MCF-7	breast:
4	chr11:65837641..65839546-chr11:66050688..66053288,2	K562	blood:
5	chr11:66050790..66053564-chr11:66079260..66081695,2	MCF-7	breast:
6	chr11:66049515..66053153-chr11:66136549..66141980,4	K562	blood:
7	chr11:66052361..66057023-chr11:66137906..66140994,4	MCF-7	breast:

No data

Variant related genes	Relation type
YIF1A	TF binding region
ENSG00000174791	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000174996	Chromatin interaction
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10750777	0.81[ASN][1000 genomes]
rs10750778	0.88[ASN][1000 genomes]
rs10750780	0.84[ASN][1000 genomes]
rs10750781	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791849	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10791850	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10791851	0.90[ASN][1000 genomes]
rs10791852	0.90[ASN][1000 genomes]
rs10791854	0.93[ASN][1000 genomes]
rs10791855	0.93[ASN][1000 genomes]
rs10791858	0.95[ASN][1000 genomes]
rs10791859	0.95[ASN][1000 genomes]
rs10791860	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10791861	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791862	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791863	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896080	0.83[ASN][1000 genomes]
rs10896081	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs10896085	0.85[ASN][1000 genomes]
rs10896087	0.85[ASN][1000 genomes]
rs10896089	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10896090	0.90[ASN][1000 genomes]
rs10896091	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.90[ASN][1000 genomes]
rs10896093	0.91[ASN][1000 genomes]
rs10896094	0.91[ASN][1000 genomes]
rs10896098	0.92[ASN][1000 genomes]
rs10896099	0.93[ASN][1000 genomes]
rs10896100	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896105	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227409	0.83[ASN][1000 genomes]
rs11227410	0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs11227411	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.83[ASN][1000 genomes]
rs11227413	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.83[ASN][1000 genomes]
rs11227414	0.82[ASN][1000 genomes]
rs11227415	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.81[ASN][1000 genomes]
rs11227420	0.90[ASN][1000 genomes]
rs11227433	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227439	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227447	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227448	0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227452	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11607393	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.83[ASN][1000 genomes]
rs12797158	0.93[ASN][1000 genomes]
rs12797586	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12800670	0.93[ASN][1000 genomes]
rs2017969	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155030	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2155031	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2155198	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2155201	0.93[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2177053	0.93[ASN][1000 genomes]
rs2177054	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2236651	0.93[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2236652	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276036	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293121	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.92[ASN][1000 genomes]
rs2298466	0.94[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs2298468	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2889313	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3132851	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3814738	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825067	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.83[ASN][1000 genomes]
rs3862386	0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3953856	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4013917	0.85[ASN][1000 genomes]
rs4393319	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4483592	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs476551	0.93[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs512421	0.89[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs560393	0.90[ASN][1000 genomes]
rs6591207	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.90[ASN][1000 genomes]
rs6591208	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.89[ASN][1000 genomes]
rs7124165	0.93[JPT][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71270566	0.83[EUR][1000 genomes]
rs7925123	0.93[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7926402	0.83[ASN][1000 genomes]
rs7929909	0.90[ASN][1000 genomes]
rs7931477	0.85[ASN][1000 genomes]
rs7931544	0.85[ASN][1000 genomes]
rs7935336	0.83[ASN][1000 genomes]
rs7941431	0.92[ASN][1000 genomes]
rs7943911	0.90[ASN][1000 genomes]
rs7945723	0.98[AFR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7946917	0.84[CHB][hapmap];0.93[YRI][hapmap];0.91[ASN][1000 genomes]
rs7951079	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs918299	0.85[ASN][1000 genomes]
rs9645684	0.95[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs9736673	0.85[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2282568	RP11-755F10.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66042000-66055600	Weak transcription	Fetal Kidney	kidney
2	chr11:66046000-66054000	Weak transcription	Aorta	Aorta
3	chr11:66047400-66055400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:66047800-66053000	Enhancers	Fetal Brain Male	brain
5	chr11:66048800-66054200	Weak transcription	NH-A	brain
6	chr11:66049000-66054400	Weak transcription	HSMM	muscle
7	chr11:66049800-66054800	Weak transcription	HSMMtube	muscle
8	chr11:66050000-66053600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:66050200-66054800	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr11:66050400-66053000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:66050400-66053600	Weak transcription	K562	blood
12	chr11:66050400-66054600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:66050400-66054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:66050400-66055000	Weak transcription	Left Ventricle	heart
15	chr11:66050400-66055200	Weak transcription	Fetal Heart	heart
16	chr11:66050400-66055400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:66050400-66055400	Weak transcription	Psoas Muscle	Psoas
18	chr11:66050600-66053600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:66050600-66054200	Strong transcription	Fetal Intestine Small	intestine
20	chr11:66050600-66054400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:66050600-66054400	Strong transcription	Placenta	Placenta
22	chr11:66050600-66054800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:66050600-66055000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:66050600-66055200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:66050600-66055200	Strong transcription	NHLF	lung
26	chr11:66050600-66055400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:66050600-66055400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:66050600-66055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:66050800-66053000	Weak transcription	Brain Angular Gyrus	brain
30	chr11:66050800-66053400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:66050800-66053800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:66050800-66054400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:66050800-66054400	Strong transcription	Fetal Intestine Large	intestine
34	chr11:66050800-66054600	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:66050800-66054600	Strong transcription	Fetal Muscle Leg	muscle
36	chr11:66050800-66055000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:66050800-66055200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:66050800-66055200	Weak transcription	Primary B cells from cord blood	blood
39	chr11:66050800-66055200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr11:66050800-66055200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:66050800-66055200	Weak transcription	Hela-S3	cervix
42	chr11:66050800-66055400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:66050800-66055400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:66051000-66053000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:66051000-66053000	Weak transcription	A549	lung
46	chr11:66051000-66053400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr11:66051000-66054400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:66051000-66054600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:66051000-66054600	Strong transcription	Fetal Stomach	stomach
50	chr11:66051000-66054800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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