Variant report

Variant	rs510372
Chromosome Location	chr11:64115137-64115138
allele	A/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	SMARCB1	chr11:64114592-64115150	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:64114696-64115181	K562	blood:	n/a	chr11:64114857-64114868
3	SMARCC1	chr11:64114648-64115195	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr11:64114580-64115216	A549	lung:	n/a	chr11:64114857-64114868
5	ZNF143	chr11:64115120-64115197	K562	blood:	n/a	n/a
6	POLR2A	chr11:64114568-64115260	HL-60	blood:	n/a	n/a
7	CEBPB	chr11:64114605-64115242	Hela-S3	cervix:	n/a	chr11:64114857-64114868
8	ZNF143	chr11:64114588-64115254	Hela-S3	cervix:	n/a	n/a
9	RCOR1	chr11:64115033-64115230	K562	blood:	n/a	n/a
10	RCOR1	chr11:64114655-64115229	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr11:64114663-64115172	A549	lung:	n/a	chr11:64114857-64114868
12	POLR2A	chr11:64114788-64115277	GM12878	blood:	n/a	n/a
13	CEBPB	chr11:64114564-64115220	HCT-116	colon:	n/a	chr11:64114857-64114868

No.	Distal block	Cell Line	Cell type
1	chr11:64114402..64115902-chr13:91999768..92001304,2	K562	blood:
2	chr11:64109106..64114264-chr11:64115033..64120054,6	MCF-7	breast:
3	chr11:64010701..64012407-chr11:64113744..64115719,2	K562	blood:

Variant related genes	Relation type
CCDC88B	TF binding region
ENSG00000215417	Chromatin interaction
ENSG00000168071	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10897487	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10897488	0.98[GIH][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11231757	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11231770	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11231771	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11231772	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11542299	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11601651	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11601860	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11606015	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11606081	0.98[GIH][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1199045	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1199046	0.96[CEU][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1199047	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1662188	0.83[EUR][1000 genomes]
rs1783521	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17857342	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2244625	0.81[ASW][hapmap];0.90[YRI][hapmap]
rs2510066	0.83[CEU][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs3132740	0.84[EUR][1000 genomes]
rs474901	0.93[GIH][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs475032	0.82[EUR][1000 genomes]
rs479552	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs479777	0.91[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4930155	0.89[GIH][hapmap];0.87[MEX][hapmap]
rs499425	0.83[CEU][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs508168	0.98[GIH][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs516124	0.87[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs519763	0.95[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs521950	0.80[AMR][1000 genomes]
rs527465	0.80[AMR][1000 genomes]
rs538147	0.98[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs541207	0.86[GIH][hapmap];0.87[MEX][hapmap]
rs542907	0.81[AMR][1000 genomes]
rs566128	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs574087	0.83[CHD][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs574835	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs600377	0.81[AMR][1000 genomes]
rs612448	0.95[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs61886886	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61886926	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs627425	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs645078	0.97[GIH][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs646153	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs647152	0.87[CEU][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs663743	0.90[CHD][hapmap];0.80[JPT][hapmap];0.82[MEX][hapmap];0.84[AMR][1000 genomes]
rs694739	0.83[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72926005	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72926006	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs887314	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
18	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
19	nsv555193	chr11:64107143-64120574	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
20	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
21	nsv897689	chr11:64109118-64148420	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs510372	TAF6L	cis	parietal	SCAN
rs510372	FKBP2	cis	parietal	SCAN
rs510372	CCDC88B	cis	multi-tissue	Pritchard
rs510372	CCDC88B	Cis_1M	lymphoblastoid	RTeQTL
rs510372	CCDC88B	cis	parietal	SCAN
rs510372	PPP1CA	cis	parietal	SCAN
rs510372	CHKA	cis	parietal	SCAN
rs510372	CCDC88B	cis	cerebellum	SCAN
rs510372	CCS	cis	cerebellum	SCAN
rs510372	AP003774.1	cis	Whole Blood	GTEx
rs510372	C11orf68	cis	cerebellum	SCAN
rs510372	CTSW	cis	cerebellum	SCAN
rs510372	SCGB2A2	cis	cerebellum	SCAN
rs510372	FKBP2	cis	cerebellum	SCAN
rs510372	CCDC88B	cis	lymphoblastoid	seeQTL
rs510372	C11orf68	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64110000-64115800	Weak transcription	HSMM	muscle
2	chr11:64110000-64122400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:64110200-64117800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:64110200-64125000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:64110200-64125200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:64110800-64116000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64110800-64116200	Weak transcription	Colonic Mucosa	Colon
8	chr11:64110800-64121400	Strong transcription	Primary T cells from cord blood	blood
9	chr11:64110800-64122400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:64110800-64122400	Weak transcription	Lung	lung
11	chr11:64110800-64122800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:64110800-64123400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:64111000-64115600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:64111000-64115800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:64111000-64115800	Weak transcription	Adipose Nuclei	Adipose
16	chr11:64111000-64116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:64111000-64116000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:64111000-64121200	Weak transcription	Liver	Liver
19	chr11:64111000-64121800	Weak transcription	Right Ventricle	heart
20	chr11:64111000-64122400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:64111000-64122400	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:64111000-64122400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:64111000-64122400	Weak transcription	Right Atrium	heart
24	chr11:64111000-64122600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:64111000-64124200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr11:64111000-64125000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:64111200-64115800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:64111200-64116000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:64111200-64116000	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:64111200-64116200	Strong transcription	Fetal Thymus	thymus
31	chr11:64111200-64121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:64111200-64121800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:64111200-64122400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:64111400-64115600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:64111400-64119000	Strong transcription	Thymus	Thymus
36	chr11:64111400-64122400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:64111400-64122600	Weak transcription	Gastric	stomach
38	chr11:64111800-64118400	Weak transcription	Placenta	Placenta
39	chr11:64111800-64125000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr11:64112000-64125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:64112200-64116000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:64112200-64120200	Weak transcription	Fetal Intestine Small	intestine
43	chr11:64112200-64120200	Weak transcription	Fetal Stomach	stomach
44	chr11:64112800-64115800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:64113200-64118400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr11:64113600-64116000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:64113800-64116000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:64113800-64117200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:64113800-64125000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:64114200-64115600	Strong transcription	Primary B cells from peripheral blood	blood

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