Variant report

Variant	rs73528892
Chromosome Location	chr11:72020144-72020145
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	JUN	chr11:72019417-72020463	K562	blood:	n/a	chr11:72020394-72020406
2	MAZ	chr11:72019216-72020565	IMR90	lung:	n/a	chr11:72019356-72019366
3	REST	chr11:72019374-72020311	PFSK-1	brain:	n/a	chr11:72019478-72019491
4	CTCF	chr11:72019940-72020210	BE2_C	brain:	n/a	n/a
5	REST	chr11:72019198-72020366	SK-N-SH	brain:	n/a	chr11:72019478-72019491
6	EBF1	chr11:72019920-72020193	GM12878	blood:	n/a	chr11:72020075-72020086
7	REST	chr11:72020008-72020343	PFSK-1	brain:	n/a	n/a
8	EP300	chr11:72019336-72020290	SK-N-SH	brain:	n/a	chr11:72019700-72019707
9	YY1	chr11:72019143-72020302	SK-N-SH_RA	brain:	n/a	n/a
10	POLR2A	chr11:72019522-72020280	SK-N-SH	brain:	n/a	n/a
11	RXRA	chr11:72019239-72020422	SK-N-SH	brain:	n/a	chr11:72019447-72019469
12	JUND	chr11:72019343-72020465	SK-N-SH	brain:	n/a	chr11:72020394-72020406
13	TCF12	chr11:72019053-72020649	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr11:72019324-72020164	PFSK-1	brain:	n/a	n/a
15	TCF12	chr11:72019172-72020601	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr11:72019077-72020436	SK-N-SH	brain:	n/a	n/a
17	POU2F2	chr11:72019824-72020181	GM12891	blood:	n/a	chr11:72020043-72020053 chr11:72020042-72020052 chr11:72020044-72020051 chr11:72020040-72020055 chr11:72020043-72020052 chr11:72020043-72020051 chr11:72020043-72020053
18	TEAD4	chr11:72019417-72020288	SK-N-SH	brain:	n/a	n/a
19	TEAD4	chr11:72019310-72020438	SK-N-SH	brain:	n/a	n/a
20	MXI1	chr11:72018331-72021953	SK-N-SH	brain:	n/a	chr11:72018888-72018897 chr11:72019902-72019917
21	EP300	chr11:72019197-72020489	SK-N-SH	brain:	n/a	chr11:72019700-72019707 chr11:72020290-72020303
22	EP300	chr11:72019118-72020514	SK-N-SH_RA	brain:	n/a	chr11:72019700-72019707 chr11:72020290-72020303
23	RAD21	chr11:72019210-72020332	SK-N-SH_RA	brain:	n/a	chr11:72019853-72019866 chr11:72019489-72019503
24	SIN3AK20	chr11:72019655-72020220	PFSK-1	brain:	n/a	n/a
25	MAX	chr11:72019208-72020526	SK-N-SH	brain:	n/a	chr11:72019356-72019366
26	NFIC	chr11:72019133-72020549	SK-N-SH	brain:	n/a	n/a
27	REST	chr11:72019483-72020214	SK-N-SH	brain:	n/a	n/a
28	PBX3	chr11:72019264-72020407	SK-N-SH	brain:	n/a	n/a
29	ZNF263	chr11:72019154-72020667	HEK293-T-REx	kidney:	n/a	chr11:72020267-72020288
30	CTCF	chr11:72020120-72020270	BE2_C	brain:	n/a	n/a
31	RAD21	chr11:72019703-72020160	IMR90	lung:	n/a	chr11:72019853-72019866
32	PBX3	chr11:72019150-72020497	SK-N-SH	brain:	n/a	n/a
33	MAZ	chr11:72019583-72020256	K562	blood:	n/a	n/a
34	GATA1	chr11:72019255-72020394	K562	blood:	n/a	n/a
35	GATA3	chr11:72019332-72020427	SK-N-SH	brain:	n/a	n/a
36	MAX	chr11:72019533-72020486	SK-N-SH	brain:	n/a	n/a
37	GATA3	chr11:72019116-72020598	SK-N-SH	brain:	n/a	n/a
38	GATA2	chr11:72019183-72020362	SH-SY5Y	brain:	n/a	n/a
39	JUND	chr11:72019368-72020429	SK-N-SH	brain:	n/a	chr11:72020394-72020406
40	TAF1	chr11:72019499-72020243	PFSK-1	brain:	n/a	n/a
41	KAP1	chr11:72019099-72020432	HEK293	kidney:	n/a	n/a
42	KAP1	chr11:72019153-72020447	U2OS	brain:	n/a	n/a
43	EP300	chr11:72019077-72020455	SK-N-SH_RA	brain:	n/a	chr11:72019700-72019707 chr11:72020290-72020303
44	FOSL2	chr11:72019431-72020355	SK-N-SH	brain:	n/a	n/a
45	POU2F2	chr11:72019832-72020251	GM12878	blood:	n/a	chr11:72020043-72020053 chr11:72020042-72020052 chr11:72020044-72020051 chr11:72020040-72020055 chr11:72020043-72020052 chr11:72020043-72020051 chr11:72020043-72020053
46	EP300	chr11:72016637-72022225	SK-N-SH	brain:	n/a	chr11:72016707-72016716 chr11:72019700-72019707 chr11:72020290-72020303
47	YY1	chr11:72019148-72020502	SK-N-SH_RA	brain:	n/a	n/a
48	NFIC	chr11:72019392-72020442	SK-N-SH	brain:	n/a	n/a
49	SIN3AK20	chr11:72019515-72020223	SK-N-SH	brain:	n/a	n/a
50	RAD21	chr11:72019227-72020436	SK-N-SH_RA	brain:	n/a	chr11:72019853-72019866 chr11:72019489-72019503

Variant related genes	Relation type
CLPB	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11548491	0.83[ASN][1000 genomes]
rs12416741	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12418533	0.84[ASN][1000 genomes]
rs1783632	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784257	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2276046	0.83[ASN][1000 genomes]
rs2508199	0.84[ASN][1000 genomes]
rs2508201	0.94[ASN][1000 genomes]
rs2508204	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2508861	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508865	0.94[ASN][1000 genomes]
rs2508866	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36049191	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3900852	0.81[ASN][1000 genomes]
rs472837	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs477354	0.84[ASN][1000 genomes]
rs487288	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs506041	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723921	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56229279	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333926	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57276029	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57291879	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57464210	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57614093	0.94[ASN][1000 genomes]
rs57669200	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58306819	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58489620	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58753751	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs590732	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59427981	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59509230	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59612321	0.94[ASN][1000 genomes]
rs59980097	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60024067	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60849224	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61563240	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61736312	0.81[ASN][1000 genomes]
rs650834	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7108974	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116854	0.94[ASN][1000 genomes]
rs7130652	0.94[ASN][1000 genomes]
rs73528886	0.94[ASN][1000 genomes]
rs73528897	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7952074	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9886	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71995600-72028000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:72001000-72039800	Weak transcription	Psoas Muscle	Psoas
3	chr11:72001800-72032600	Weak transcription	A549	lung
4	chr11:72002000-72025400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:72002200-72025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:72002600-72024000	Weak transcription	Small Intestine	intestine
7	chr11:72002800-72025400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:72002800-72044600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:72003200-72020400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:72003200-72025800	Strong transcription	Primary T cells from cord blood	blood
11	chr11:72003200-72026800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:72003200-72028600	Strong transcription	Lung	lung
13	chr11:72003200-72029000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:72003200-72031200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:72003200-72033600	Strong transcription	Dnd41	blood
16	chr11:72003200-72034200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:72003200-72034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:72003200-72041800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:72003200-72041800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:72005200-72025600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:72006000-72034600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:72006200-72040000	Weak transcription	Stomach Mucosa	stomach
23	chr11:72006800-72025800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:72008400-72025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:72008400-72044600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr11:72010600-72021000	Strong transcription	Primary B cells from cord blood	blood
27	chr11:72011400-72020600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:72011600-72025200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:72012400-72020200	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:72012800-72070600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:72013200-72020800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:72013200-72025800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:72013400-72024400	Weak transcription	Brain Substantia Nigra	brain
34	chr11:72013600-72024000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:72013600-72040200	Weak transcription	Fetal Kidney	kidney
36	chr11:72013600-72040800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:72013800-72024000	Weak transcription	Right Ventricle	heart
38	chr11:72013800-72025000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:72013800-72025200	Weak transcription	Fetal Thymus	thymus
40	chr11:72014000-72026800	Weak transcription	Brain Angular Gyrus	brain
41	chr11:72014400-72032600	Weak transcription	HUVEC	blood vessel
42	chr11:72014600-72045000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:72014800-72025200	Weak transcription	Thymus	Thymus
44	chr11:72015000-72026800	Weak transcription	Ovary	ovary
45	chr11:72016600-72029000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:72016800-72024800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:72017000-72020600	Enhancers	NH-A	brain
48	chr11:72017000-72023800	Weak transcription	Esophagus	oesophagus
49	chr11:72017400-72021800	Weak transcription	Aorta	Aorta
50	chr11:72017400-72023400	Weak transcription	Brain Anterior Caudate	brain

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