Variant report

Variant	rs9326361
Chromosome Location	chr11:65685970-65685971
allele	C/T
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	EGR1	chr11:65685178-65687788	HCT-116	colon:	n/a	chr11:65687121-65687136 chr11:65687354-65687367 chr11:65687123-65687133 chr11:65686611-65686625 chr11:65686295-65686305 chr11:65686845-65686860 chr11:65686846-65686859 chr11:65687595-65687608 chr11:65686717-65686730 chr11:65687155-65687165 chr11:65686846-65686859 chr11:65686846-65686860 chr11:65686846-65686859 chr11:65686849-65686859 chr11:65687122-65687135 chr11:65687712-65687722 chr11:65687157-65687170 chr11:65687297-65687311 chr11:65686849-65686858 chr11:65686846-65686859 chr11:65687120-65687130
2	POLR2A	chr11:65685686-65686639	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:65685898-65686303	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr11:65685953-65686649	SK-N-SH_RA	brain:	n/a	chr11:65686494-65686506 chr11:65686300-65686309 chr11:65686304-65686314 chr11:65686350-65686361 chr11:65686295-65686309
5	POLR2A	chr11:65685919-65687136	HUVEC	blood vessel:	n/a	n/a
6	SP1	chr11:65685425-65687551	HCT-116	colon:	n/a	chr11:65686722-65686731 chr11:65687156-65687165 chr11:65687155-65687164 chr11:65686352-65686366 chr11:65687120-65687130 chr11:65687119-65687131 chr11:65687351-65687361 chr11:65687120-65687129 chr11:65686850-65686862 chr11:65687154-65687166 chr11:65687120-65687129 chr11:65686782-65686793 chr11:65686850-65686862 chr11:65687120-65687134 chr11:65687355-65687369 chr11:65686550-65686562 chr11:65687155-65687169 chr11:65687121-65687130 chr11:65687155-65687165 chr11:65687154-65687166 chr11:65686851-65686860 chr11:65686850-65686861 chr11:65687119-65687131 chr11:65687120-65687130 chr11:65686852-65686861
7	E2F6	chr11:65685762-65686581	A549	lung:	n/a	chr11:65686300-65686309 chr11:65686359-65686371 chr11:65686296-65686305 chr11:65686334-65686346
8	MAX	chr11:65685843-65686699	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr11:65685931-65687274	HUVEC	blood vessel:	n/a	n/a
10	YY1	chr11:65685925-65687105	GM12892	blood:	n/a	chr11:65686848-65686857 chr11:65686494-65686506 chr11:65686300-65686309 chr11:65686304-65686314 chr11:65686723-65686734 chr11:65686926-65686940 chr11:65686350-65686361 chr11:65686295-65686309 chr11:65686932-65686941
11	MAZ	chr11:65684129-65687972	IMR90	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
12	YY1	chr11:65685758-65687229	SK-N-SH	brain:	n/a	chr11:65686848-65686857 chr11:65686494-65686506 chr11:65686300-65686309 chr11:65686304-65686314 chr11:65686723-65686734 chr11:65687156-65687165 chr11:65687121-65687130 chr11:65686926-65686940 chr11:65686350-65686361 chr11:65686295-65686309 chr11:65686932-65686941
13	ETS1	chr11:65685963-65686583	K562	blood:	n/a	chr11:65686365-65686376 chr11:65686021-65686034 chr11:65686022-65686035 chr11:65686352-65686365
14	YY1	chr11:65685956-65687112	ECC-1	luminal epithelium:	n/a	chr11:65686848-65686857 chr11:65686494-65686506 chr11:65686300-65686309 chr11:65686304-65686314 chr11:65686723-65686734 chr11:65686926-65686940 chr11:65686350-65686361 chr11:65686295-65686309 chr11:65686932-65686941
15	STAT5A	chr11:65685748-65686527	GM12878	blood:	n/a	chr11:65686348-65686360 chr11:65686353-65686365
16	POLR2A	chr11:65685902-65687208	Hela-S3	cervix:	n/a	n/a
17	EGR1	chr11:65685968-65687561	K562	blood:	n/a	chr11:65687121-65687136 chr11:65687354-65687367 chr11:65687123-65687133 chr11:65686611-65686625 chr11:65686295-65686305 chr11:65686845-65686860 chr11:65686846-65686859 chr11:65686717-65686730 chr11:65687155-65687165 chr11:65686846-65686859 chr11:65686846-65686860 chr11:65686846-65686859 chr11:65686849-65686859 chr11:65687122-65687135 chr11:65687157-65687170 chr11:65687297-65687311 chr11:65686849-65686858 chr11:65686846-65686859 chr11:65687120-65687130
18	E2F6	chr11:65685947-65687215	K562	blood:	n/a	chr11:65686300-65686309 chr11:65686839-65686846 chr11:65686359-65686371 chr11:65686726-65686738 chr11:65687156-65687165 chr11:65686296-65686305 chr11:65686839-65686846 chr11:65687121-65687130 chr11:65686836-65686851 chr11:65686334-65686346 chr11:65686839-65686846 chr11:65686722-65686731 chr11:65686854-65686863
19	MAX	chr11:65685758-65687963	MCF-7	breast:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
20	YY1	chr11:65685813-65687159	GM12878	blood:	n/a	chr11:65686848-65686857 chr11:65686494-65686506 chr11:65686300-65686309 chr11:65686304-65686314 chr11:65686723-65686734 chr11:65687121-65687130 chr11:65686926-65686940 chr11:65686350-65686361 chr11:65686295-65686309 chr11:65686932-65686941
21	ESRRA	chr11:65685419-65687131	GM12878	blood:	n/a	n/a
22	TAF1	chr11:65685967-65687399	ECC-1	luminal epithelium:	n/a	n/a
23	E2F4	chr11:65685926-65686126	MCF10A-Er-Src	breast:	n/a	n/a
24	HCFC1	chr11:65685563-65688075	Hela-S3	cervix:	n/a	n/a
25	TAF1	chr11:65685920-65687104	MCF-7	breast:	n/a	n/a
26	POLR2A	chr11:65681960-65688394	PANC-1	pancreas:	n/a	n/a
27	TAF1	chr11:65685963-65686640	SK-N-SH	brain:	n/a	n/a
28	TAF1	chr11:65685894-65686646	K562	blood:	n/a	n/a
29	ZNF143	chr11:65685711-65685973	K562	blood:	n/a	n/a
30	SIN3AK20	chr11:65685924-65686654	K562	blood:	n/a	n/a
31	TAF1	chr11:65685875-65687140	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr11:65685891-65686405	GM12878	blood:	n/a	n/a
33	YY1	chr11:65685865-65687372	K562	blood:	n/a	chr11:65686848-65686857 chr11:65686494-65686506 chr11:65686300-65686309 chr11:65686304-65686314 chr11:65686723-65686734 chr11:65687156-65687165 chr11:65687121-65687130 chr11:65686926-65686940 chr11:65686350-65686361 chr11:65686295-65686309 chr11:65686932-65686941
34	CHD1	chr11:65684362-65687144	IMR90	lung:	n/a	chr11:65687119-65687129
35	POLR2A	chr11:65685910-65686203	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr11:65685956-65686586	Hela-S3	cervix:	n/a	n/a
37	YY1	chr11:65685807-65686610	A549	lung:	n/a	chr11:65686494-65686506 chr11:65686300-65686309 chr11:65686304-65686314 chr11:65686350-65686361 chr11:65686295-65686309
38	MYC	chr11:65685934-65687393	NB4	blood:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
39	POLR2A	chr11:65685935-65686565	GM12891	blood:	n/a	n/a
40	PML	chr11:65685919-65687490	GM12878	blood:	n/a	n/a
41	GATA3	chr11:65685820-65687174	A549	lung:	n/a	n/a
42	ZNF143	chr11:65685892-65686393	Hela-S3	cervix:	n/a	chr11:65686025-65686034 chr11:65686364-65686374 chr11:65686354-65686372 chr11:65686295-65686305
43	POLR2A	chr11:65685345-65687161	HUVEC	blood vessel:	n/a	n/a
44	ELF1	chr11:65685845-65688085	GM12878	blood:	n/a	chr11:65686336-65686348 chr11:65686030-65686042 chr11:65686555-65686567 chr11:65686562-65686574 chr11:65686932-65686941
45	SIN3AK20	chr11:65685537-65686037	A549	lung:	n/a	n/a
46	POLR2A	chr11:65685882-65686618	ECC-1	luminal epithelium:	n/a	n/a
47	MXI1	chr11:65685333-65688811	IMR90	lung:	n/a	n/a
48	POLR2A	chr11:65685955-65687681	MCF-7	breast:	n/a	n/a
49	MAX	chr11:65684998-65688252	A549	lung:	n/a	chr11:65687019-65687026 chr11:65687018-65687027 chr11:65687018-65687028 chr11:65687016-65687029 chr11:65687017-65687028 chr11:65687367-65687377 chr11:65687018-65687027 chr11:65687017-65687028 chr11:65687017-65687027 chr11:65687016-65687026 chr11:65687354-65687363 chr11:65687122-65687132 chr11:65687017-65687028
50	RCOR1	chr11:65685260-65688557	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65685704..65687769-chr16:2199138..2200731,2	MCF-7	breast:
2	chr11:65683165..65691632-chr11:65723620..65730701,28	MCF-7	breast:
3	chr11:65650935..65653549-chr11:65685284..65687414,2	MCF-7	breast:
4	chr11:65383137..65385926-chr11:65685879..65687522,2	MCF-7	breast:
5	chr11:65342886..65345023-chr11:65685103..65687892,2	MCF-7	breast:
6	chr11:65684297..65686517-chr11:66083132..66085712,2	MCF-7	breast:
7	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
8	chr11:65685063..65688035-chr11:65836071..65837888,2	MCF-7	breast:
9	chr11:65684149..65688321-chr11:65727274..65731998,8	MCF-7	breast:
10	chr11:65624095..65629782-chr11:65682347..65689302,13	MCF-7	breast:
11	chr11:64509755..64511903-chr11:65684738..65686627,2	K562	blood:
12	chr11:65685854..65687838-chr13:92002138..92004111,2	K562	blood:
13	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
14	chr11:65684023..65687163-chr11:65778751..65782457,4	MCF-7	breast:
15	chr11:65622510..65630779-chr11:65675126..65689187,23	MCF-7	breast:
16	chr11:65488196..65490800-chr11:65684778..65687737,2	MCF-7	breast:
17	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:

Variant related genes	Relation type
C11orf68	TF binding region
DRAP1	TF binding region
ENSG00000175602	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000174807	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000167964	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000172638	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10791832	1.00[CEU][hapmap]
rs10896065	1.00[CEU][hapmap]
rs11227337	1.00[EUR][1000 genomes]
rs11227338	1.00[EUR][1000 genomes]
rs11825885	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12288911	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12289280	1.00[EUR][1000 genomes]
rs653955	1.00[CEU][hapmap]
rs7940700	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7941052	1.00[EUR][1000 genomes]
rs7947504	0.87[AMR][1000 genomes]
rs9326360	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs9795434	1.00[CEU][hapmap]
rs9919533	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
10	nsv897767	chr11:65683531-65690206	Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3325633	chr11:65685401-65688349	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
12	esv3406227	chr11:65685726-65687774	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65682600-65686000	Flanking Active TSS	Hela-S3	cervix
2	chr11:65682600-65686400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:65682800-65686200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:65682800-65686200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr11:65683400-65686000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:65683400-65686000	Flanking Active TSS	HUVEC	blood vessel
7	chr11:65683800-65686000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:65683800-65686200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:65684200-65686000	Transcr. at gene 5' and 3'	NHEK	skin
10	chr11:65684400-65686000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:65684400-65686000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:65684400-65686000	Flanking Active TSS	HSMMtube	muscle
13	chr11:65684400-65686200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:65684400-65686400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
15	chr11:65684600-65686000	Flanking Active TSS	Colonic Mucosa	Colon
16	chr11:65684600-65686000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:65684600-65686000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr11:65684600-65686000	Flanking Active TSS	GM12878-XiMat	blood
19	chr11:65684600-65686200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr11:65684600-65686200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr11:65684600-65686200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr11:65684600-65686200	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr11:65684600-65686200	Flanking Active TSS	HMEC	breast
24	chr11:65684800-65686000	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr11:65684800-65686000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr11:65684800-65686000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr11:65684800-65686000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr11:65685000-65686000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr11:65685000-65686000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr11:65685000-65686000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:65685000-65686000	Flanking Active TSS	Pancreas	Pancrea
32	chr11:65685000-65686200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr11:65685200-65686000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:65685200-65686000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr11:65685200-65686000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:65685200-65686000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:65685200-65686000	Transcr. at gene 5' and 3'	Placenta	Placenta
38	chr11:65685200-65686000	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr11:65685200-65686000	Flanking Active TSS	K562	blood
40	chr11:65685200-65686200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr11:65685200-65686200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr11:65685200-65686200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:65685200-65686200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
44	chr11:65685200-65686400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:65685200-65688000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:65685400-65686000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:65685400-65686000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:65685400-65686000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr11:65685400-65686000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr11:65685400-65686000	Flanking Active TSS	Liver	Liver

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