Variant report

Variant	rs11548491
Chromosome Location	chr11:71948536-71948537
allele	C/G
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	POLR2A	chr11:71948357-71950134	GM12892	blood:	n/a	n/a
2	CTCF	chr11:71948440-71948590	GM12872	blood:	n/a	n/a
3	POLR2A	chr11:71944622-71955431	SK-N-SH	brain:	n/a	n/a
4	EP300	chr11:71948221-71950033	SK-N-SH_RA	brain:	n/a	chr11:71949231-71949247
5	CTCF	chr11:71948400-71948550	HRPEpiC	eye:	n/a	n/a
6	POLR2A	chr11:71948457-71949073	GM12892	blood:	n/a	n/a
7	YY1	chr11:71947724-71950152	SK-N-SH_RA	brain:	n/a	n/a
8	RAD21	chr11:71947602-71950032	SK-N-SH_RA	brain:	n/a	chr11:71949231-71949244
9	CTCF	chr11:71948178-71948544	K562	blood:	n/a	n/a
10	POLR2A	chr11:71948473-71949681	K562	blood:	n/a	n/a
11	EP300	chr11:71948506-71950057	SK-N-SH_RA	brain:	n/a	chr11:71949231-71949247
12	REST	chr11:71948245-71949745	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr11:71948060-71948662	K562	blood:	n/a	n/a
14	POLR2A	chr11:71945957-71952577	SK-N-SH	brain:	n/a	n/a
15	MAZ	chr11:71948536-71948562	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:71947949-71951292	K562	blood:	n/a	n/a
17	POLR2A	chr11:71948197-71951054	PFSK-1	brain:	n/a	n/a
18	CTCF	chr11:71947572-71951332	SK-N-SH	brain:	n/a	chr11:71949028-71949036
19	RAD21	chr11:71948486-71949015	SK-N-SH_RA	brain:	n/a	n/a
20	SIN3AK20	chr11:71948187-71951265	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr11:71948246-71951584	SK-N-SH	brain:	n/a	n/a
22	YY1	chr11:71948189-71949837	SK-N-SH_RA	brain:	n/a	n/a
23	POLR2A	chr11:71948221-71951521	GM12878	blood:	n/a	n/a
24	RAD21	chr11:71948131-71948613	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:71948257-71949775	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:71948049-71952245	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:71947841-71948594	K562	blood:	n/a	n/a
28	POLR2A	chr11:71948522-71948707	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:71948160-71951508	K562	blood:	n/a	n/a
30	CTCF	chr11:71948420-71948570	WERI-Rb-1	eye:	n/a	n/a
31	POLR2A	chr11:71948110-71952171	Hela-S3	cervix:	n/a	n/a
32	RAD21	chr11:71948246-71948546	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71822074..71824400-chr11:71947784..71949539,2	K562	blood:
2	chr11:71948375..71952014-chr11:71952052..71958381,8	MCF-7	breast:
3	chr11:71734617..71736774-chr11:71947539..71949807,2	MCF-7	breast:

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000110200	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000165462	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12416741	0.81[ASN][1000 genomes]
rs12418533	0.98[ASN][1000 genomes]
rs1783632	0.83[ASN][1000 genomes]
rs1784257	0.83[ASN][1000 genomes]
rs2276046	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508199	0.98[ASN][1000 genomes]
rs2508201	0.81[ASN][1000 genomes]
rs2508861	0.83[ASN][1000 genomes]
rs2508865	0.81[ASN][1000 genomes]
rs2508866	0.83[ASN][1000 genomes]
rs3900852	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs472837	0.83[ASN][1000 genomes]
rs477354	0.98[ASN][1000 genomes]
rs487288	0.83[ASN][1000 genomes]
rs506041	0.83[ASN][1000 genomes]
rs527905	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55723921	0.83[ASN][1000 genomes]
rs56229279	0.83[ASN][1000 genomes]
rs56333926	0.83[ASN][1000 genomes]
rs57614093	0.81[ASN][1000 genomes]
rs58489620	0.83[ASN][1000 genomes]
rs590732	0.83[ASN][1000 genomes]
rs59427981	0.83[ASN][1000 genomes]
rs59509230	0.85[ASN][1000 genomes]
rs59612321	0.81[ASN][1000 genomes]
rs59980097	0.85[ASN][1000 genomes]
rs61736312	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs650834	0.81[ASN][1000 genomes]
rs70940824	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7108974	0.83[ASN][1000 genomes]
rs7110260	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7116854	0.81[ASN][1000 genomes]
rs7130652	0.81[ASN][1000 genomes]
rs73528886	0.81[ASN][1000 genomes]
rs73528892	0.83[ASN][1000 genomes]
rs9886	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv555404	chr11:71944242-71949952	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv555405	chr11:71944667-71952345	Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71937000-71949200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:71937000-71950200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:71937000-71950600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:71937000-71950600	Weak transcription	Psoas Muscle	Psoas
5	chr11:71937400-71949600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:71937400-71950000	Strong transcription	NHLF	lung
7	chr11:71937600-71949000	Weak transcription	Right Atrium	heart
8	chr11:71937600-71949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:71937800-71948800	Strong transcription	Aorta	Aorta
10	chr11:71937800-71948800	Strong transcription	Spleen	Spleen
11	chr11:71937800-71949400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:71937800-71949400	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:71937800-71949400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:71937800-71950000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:71938000-71948600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:71938000-71949200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:71938200-71948800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:71938200-71949600	Strong transcription	Liver	Liver
19	chr11:71938200-71949600	Strong transcription	Dnd41	blood
20	chr11:71938400-71950000	Strong transcription	NHEK	skin
21	chr11:71938400-71950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:71938600-71949000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:71938600-71950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:71938800-71948600	Weak transcription	Fetal Brain Male	brain
25	chr11:71938800-71948800	Strong transcription	Esophagus	oesophagus
26	chr11:71938800-71949200	Strong transcription	Osteobl	bone
27	chr11:71939000-71949000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr11:71939000-71949000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr11:71939000-71949400	Strong transcription	Ovary	ovary
30	chr11:71939000-71949400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr11:71939000-71949400	Strong transcription	Thymus	Thymus
32	chr11:71939200-71948600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:71939200-71948800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:71939200-71948800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:71939200-71948800	Strong transcription	A549	lung
36	chr11:71939200-71949200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:71939200-71949200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:71939400-71948600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:71939400-71948600	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:71939400-71948600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:71939400-71948800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:71939400-71949200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:71939400-71949400	Strong transcription	HSMM	muscle
44	chr11:71939400-71949600	Strong transcription	Fetal Thymus	thymus
45	chr11:71939400-71949800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:71939400-71949800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:71939400-71949800	Strong transcription	Primary T cells from cord blood	blood
48	chr11:71939400-71949800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr11:71939600-71948600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:71939600-71949000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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