Variant report

Variant	rs76185565
Chromosome Location	chr11:65554710-65554711
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	MAX	chr11:65553761-65555125	ECC-1	luminal epithelium:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
2	ZEB1	chr11:65554329-65554945	GM12878	blood:	n/a	chr11:65554615-65554626
3	POLR2A	chr11:65554447-65554766	H1-neurons	neurons:	n/a	n/a
4	MAX	chr11:65553701-65555122	MCF-7	breast:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
5	TEAD4	chr11:65554117-65554898	ECC-1	luminal epithelium:	n/a	n/a
6	E2F6	chr11:65554479-65555892	H1-hESC	embryonic stem cell:	n/a	chr11:65554555-65554564 chr11:65555196-65555205 chr11:65555197-65555212 chr11:65554553-65554563 chr11:65555353-65555362 chr11:65555353-65555365 chr11:65554603-65554612
7	NFIC	chr11:65553857-65554853	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr11:65554206-65554808	HCT-116	colon:	n/a	n/a
9	MAX	chr11:65553717-65556062	H1-hESC	embryonic stem cell:	n/a	chr11:65554464-65554474 chr11:65555943-65555953 chr11:65555243-65555253 chr11:65554157-65554167 chr11:65555486-65555495
10	POLR2A	chr11:65554435-65554769	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr11:65553767-65555136	ECC-1	luminal epithelium:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
12	SIN3AK20	chr11:65554103-65554979	HCT-116	colon:	n/a	n/a
13	GATA3	chr11:65553847-65554829	MCF-7	breast:	n/a	chr11:65553964-65553972
14	TAF1	chr11:65554433-65554715	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr11:65554001-65555003	HCT-116	colon:	n/a	n/a
16	SIN3AK20	chr11:65553765-65556882	MCF-7	breast:	n/a	n/a
17	MAX	chr11:65553720-65554983	MCF-7	breast:	n/a	chr11:65554464-65554474 chr11:65554157-65554167
18	MAX	chr11:65554692-65555445	A549	lung:	n/a	chr11:65555243-65555253
19	POLR2A	chr11:65554363-65554849	HCT-116	colon:	n/a	n/a
20	POLR2A	chr11:65554491-65554744	H1-neurons	neurons:	n/a	n/a
21	GATA3	chr11:65553720-65554930	MCF-7	breast:	n/a	chr11:65553964-65553972
22	HDAC2	chr11:65553811-65555066	MCF-7	breast:	n/a	n/a
23	HDAC2	chr11:65553909-65554954	MCF-7	breast:	n/a	n/a
24	SIN3AK20	chr11:65553762-65554973	MCF-7	breast:	n/a	n/a
25	POLR2A	chr11:65554320-65554859	ProgFib	skin:	n/a	n/a
26	TEAD4	chr11:65554475-65554807	H1-hESC	embryonic stem cell:	n/a	n/a
27	PML	chr11:65554331-65554836	MCF-7	breast:	n/a	n/a
28	ELF1	chr11:65554606-65554971	GM12878	blood:	n/a	n/a
29	TAF1	chr11:65554285-65554913	MCF-7	breast:	n/a	n/a
30	SIN3A	chr11:65554671-65554812	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:65554295-65554912	MCF-7	breast:	n/a	n/a
32	TCF12	chr11:65554045-65554751	ECC-1	luminal epithelium:	n/a	n/a
33	TEAD4	chr11:65554132-65554874	ECC-1	luminal epithelium:	n/a	n/a
34	NR2F2	chr11:65553808-65554765	MCF-7	breast:	n/a	n/a
35	TCF12	chr11:65553852-65555011	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr11:65554272-65554957	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:65554199-65555019	MCF-7	breast:	n/a	n/a
38	ELF1	chr11:65554103-65555120	MCF-7	breast:	n/a	chr11:65554979-65554988 chr11:65554230-65554242 chr11:65554468-65554480 chr11:65554165-65554177
39	MYC	chr11:65554242-65554743	MCF-7	breast:	n/a	chr11:65554464-65554474
40	YY1	chr11:65554474-65554719	HCT-116	colon:	n/a	chr11:65554555-65554564 chr11:65554603-65554612 chr11:65554553-65554564

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65554678-65554728	SAEC	small airway:	n/a
2	chr11:65554678-65554728	PFSK-1	brain:	n/a
3	chr11:65554678-65554728	Hela-S3	cervix:	n/a
4	chr11:65554678-65554728	AG09319	gingival:	n/a
5	chr11:65554678-65554728	PANC-1	pancreas:	n/a
6	chr11:65554678-65554728	Caco-2	colon:	n/a
7	chr11:65554678-65554728	Jurkat	blood:	n/a
8	chr11:65554678-65554728	HRPEpiC	eye:	n/a
9	chr11:65554678-65554728	A549	lung:	n/a
10	chr11:65554678-65554728	HepG2	liver:	n/a
11	chr11:65554678-65554728	HCPEpiC	choroid plexus:	n/a
12	chr11:65554678-65554728	SK-N-MC	brain:	n/a
13	chr11:65554678-65554728	SKMC	muscle:	n/a
14	chr11:65554678-65554728	BJ	skin:	n/a
15	chr11:65554678-65554728	MCF-7	breast:	n/a
16	chr11:65554678-65554728	HCF	heart:	n/a
17	chr11:65554678-65554728	GM19239	blood:	n/a
18	chr11:65554678-65554728	HL-60	blood:	n/a
19	chr11:65554678-65554728	NHDF-neo	bronchial:	n/a
20	chr11:65554678-65554728	AG04450	lung:	fetal
21	chr11:65554678-65554728	GM06990	blood:	n/a
22	chr11:65554678-65554728	NB4	blood:	n/a
23	chr11:65554678-65554728	HRE	kidney:	n/a
24	chr11:65554678-65554728	HNPCEpiC	eye:	n/a
25	chr11:65554678-65554728	SK-N-SH_RA	brain:	n/a
26	chr11:65554678-65554728	Hepatocyte	liver:	n/a
27	chr11:65554678-65554728	T-47D	breast:	n/a
28	chr11:65554678-65554728	AoSMC	blood vessel:	n/a
29	chr11:65554678-65554728	NT2-D1	testis:	n/a
30	chr11:65554678-65554728	H1-hESC	embryonic stem cell:	embryo
31	chr11:65554678-65554728	LNCaP	prostate:	n/a
32	chr11:65554678-65554728	HMEC	breast:	n/a
33	chr11:65554678-65554728	IMR90	lung:	fetal
34	chr11:65554678-65554728	GM12878	blood:	n/a
35	chr11:65554678-65554728	HCT-116	colon:	n/a
36	chr11:65554678-65554728	NH-A	brain:	n/a
37	chr11:65554678-65554728	HIPEpiC	eye:	n/a
38	chr11:65554678-65554728	HPAEpiC	pulmonary alveolar:	n/a
39	chr11:65554678-65554728	CMK	blood:	n/a
40	chr11:65554678-65554728	U87	brain:	n/a
41	chr11:65554678-65554728	GM12891	blood:	n/a
42	chr11:65554678-65554728	BE2_C	brain:	n/a
43	chr11:65554678-65554728	GM12892	blood:	n/a
44	chr11:65554678-65554728	AG04449	skin:	fetal
45	chr11:65554678-65554728	HEEpiC	esophagus:	n/a
46	chr11:65554678-65554728	PrEC	prostate:	n/a
47	chr11:65554678-65554728	ProgFib	skin:	n/a
48	chr11:65554678-65554728	SK-N-SH	brain:	n/a
49	chr11:65554678-65554728	HUVEC	blood vessel:	n/a
50	chr11:65554678-65554728	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65552279..65555050-chr11:65558664..65561977,4	K562	blood:
2	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
3	chr11:65381719..65383349-chr11:65554196..65557028,2	MCF-7	breast:
4	chr11:65428991..65430722-chr11:65553054..65555889,2	MCF-7	breast:
5	chr11:65553824..65556845-chr11:65623477..65626342,3	K562	blood:
6	chr11:65479523..65484500-chr11:65551483..65556601,5	MCF-7	breast:
7	chr11:65552272..65555849-chr11:65684886..65688039,3	MCF-7	breast:
8	chr11:65552282..65556398-chr11:65623209..65626538,5	MCF-7	breast:
9	chr11:65545987..65548666-chr11:65554230..65557097,2	K562	blood:

Variant related genes	Relation type
OVOL1	TF binding region
OVOL1	CpG island
ENSG00000172757	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175827	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	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
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv897760	chr11:65545306-65559266	Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv3321581	chr11:65552901-65555749	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65551200-65555600	Bivalent Enhancer	Fetal Thymus	thymus
2	chr11:65553400-65555200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr11:65553400-65555800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr11:65553400-65556400	Bivalent Enhancer	Spleen	Spleen
5	chr11:65553400-65557200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
6	chr11:65553600-65555000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr11:65553600-65555600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:65553600-65556000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:65553600-65556000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:65553600-65556000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:65553600-65556000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:65553600-65556000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr11:65553800-65554800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
14	chr11:65553800-65555000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:65553800-65555000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:65553800-65555200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
17	chr11:65553800-65556000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:65553800-65556200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:65554000-65555000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
20	chr11:65554000-65555000	Bivalent Enhancer	Left Ventricle	heart
21	chr11:65554000-65555000	Flanking Active TSS	HMEC	breast
22	chr11:65554000-65555200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:65554000-65555600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:65554000-65555600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr11:65554000-65555800	Flanking Bivalent TSS/Enh	Thymus	Thymus
26	chr11:65554000-65556000	Bivalent Enhancer	Fetal Brain Male	brain
27	chr11:65554000-65556000	Enhancers	Lung	lung
28	chr11:65554000-65556200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:65554000-65556200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr11:65554000-65556200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
31	chr11:65554200-65554800	Enhancers	Liver	Liver
32	chr11:65554200-65554800	Bivalent Enhancer	Colon Smooth Muscle	Colon
33	chr11:65554200-65555200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
34	chr11:65554200-65555200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:65554200-65555200	Active TSS	Ovary	ovary
36	chr11:65554200-65555200	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr11:65554200-65555200	Active TSS	Right Atrium	heart
38	chr11:65554200-65555400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:65554200-65555400	Bivalent/Poised TSS	NHEK	skin
40	chr11:65554200-65555600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:65554200-65555600	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:65554200-65555800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:65554400-65555200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr11:65554400-65555200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:65554400-65555800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr11:65554400-65556000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
47	chr11:65554400-65556200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr11:65554400-65556800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr11:65554600-65554800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:65554600-65554800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung

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