Variant report

Variant	rs3814707
Chromosome Location	chr11:65560785-65560786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65560615-65560978	HCT-116	colon:	n/a	n/a
2	ESR1	chr11:65560636-65561018	ECC-1	luminal epithelium:	n/a	n/a
3	STAT3	chr11:65560660-65560872	MCF10A-Er-Src	breast:	n/a	n/a
4	NFIC	chr11:65560409-65561561	ECC-1	luminal epithelium:	n/a	n/a
5	MAZ	chr11:65560765-65560877	Hela-S3	cervix:	n/a	chr11:65560831-65560840
6	STAT3	chr11:65560662-65560835	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr11:65560753-65560901	HepG2	liver:	n/a	n/a
8	ZBTB7A	chr11:65560584-65561517	ECC-1	luminal epithelium:	n/a	n/a
9	HDAC2	chr11:65560518-65561127	MCF-7	breast:	n/a	n/a
10	CEBPB	chr11:65560586-65561089	MCF-7	breast:	n/a	n/a
11	SP1	chr11:65558846-65561180	HCT-116	colon:	n/a	chr11:65560997-65561011 chr11:65560729-65560739 chr11:65561004-65561018 chr11:65559344-65559358 chr11:65559950-65559964
12	ZBTB7A	chr11:65560576-65561694	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr11:65559765-65560817	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF12	chr11:65560368-65561709	ECC-1	luminal epithelium:	n/a	chr11:65561175-65561183 chr11:65560936-65560946
15	CEBPB	chr11:65560653-65561009	Hela-S3	cervix:	n/a	n/a
16	E2F4	chr11:65560763-65560799	MCF10A-Er-Src	breast:	n/a	n/a
17	SIN3AK20	chr11:65558870-65561268	MCF-7	breast:	n/a	n/a
18	MAX	chr11:65560641-65561145	MCF-7	breast:	n/a	chr11:65560831-65560840
19	MYC	chr11:65560691-65560971	MCF-7	breast:	n/a	chr11:65560831-65560840
20	EP300	chr11:65560636-65561525	ECC-1	luminal epithelium:	n/a	n/a
21	EP300	chr11:65560410-65561683	ECC-1	luminal epithelium:	n/a	chr11:65560602-65560612
22	MYC	chr11:65560635-65560900	MCF10A-Er-Src	breast:	n/a	chr11:65560831-65560840
23	RCOR1	chr11:65560710-65560902	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr11:65560702-65560989	HepG2	liver:	n/a	n/a
25	MYC	chr11:65560560-65560955	MCF10A-Er-Src	breast:	n/a	chr11:65560831-65560840
26	POLR2A	chr11:65560673-65561030	HCT-116	colon:	n/a	n/a
27	MYC	chr11:65560711-65560924	MCF-7	breast:	n/a	chr11:65560831-65560840
28	TEAD4	chr11:65560582-65561581	ECC-1	luminal epithelium:	n/a	n/a
29	FOS	chr11:65560663-65560888	MCF10A-Er-Src	breast:	n/a	n/a
30	CEBPB	chr11:65560531-65561074	MCF-7	breast:	n/a	n/a
31	MAX	chr11:65560504-65561357	MCF-7	breast:	n/a	chr11:65560831-65560840
32	NFIC	chr11:65560468-65561540	ECC-1	luminal epithelium:	n/a	n/a
33	EGR1	chr11:65559733-65561237	HCT-116	colon:	n/a	chr11:65560226-65560239 chr11:65560225-65560240 chr11:65560996-65561009
34	FOS	chr11:65560649-65560975	MCF10A-Er-Src	breast:	n/a	n/a
35	MAX	chr11:65560521-65561595	ECC-1	luminal epithelium:	n/a	chr11:65560831-65560840
36	STAT3	chr11:65560745-65560844	MCF10A-Er-Src	breast:	n/a	n/a
37	SIN3AK20	chr11:65560530-65561181	MCF-7	breast:	n/a	n/a
38	CEBPB	chr11:65560671-65560974	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:65560663-65560916	MCF-7	breast:	n/a	n/a
40	CEBPB	chr11:65560625-65561010	ECC-1	luminal epithelium:	n/a	n/a
41	TEAD4	chr11:65560647-65561548	ECC-1	luminal epithelium:	n/a	n/a
42	NR2F2	chr11:65560564-65561184	MCF-7	breast:	n/a	n/a
43	MAX	chr11:65560524-65561060	ECC-1	luminal epithelium:	n/a	chr11:65560831-65560840
44	FOS	chr11:65560655-65560888	MCF10A-Er-Src	breast:	n/a	n/a
45	HDAC2	chr11:65560515-65561131	MCF-7	breast:	n/a	n/a
46	CEBPB	chr11:65560547-65561108	ECC-1	luminal epithelium:	n/a	n/a
47	TCF12	chr11:65560393-65561596	ECC-1	luminal epithelium:	n/a	chr11:65561175-65561183 chr11:65560936-65560946
48	CTCF	chr11:65560717-65560794	NHEK	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65560763-65560813	HAEpiC	amniotic membrane:	n/a
2	chr11:65560763-65560813	GM12891	blood:	n/a
3	chr11:65560763-65560813	ProgFib	skin:	n/a
4	chr11:65560763-65560813	AG10803	skin:	n/a
5	chr11:65560763-65560813	BE2_C	brain:	n/a
6	chr11:65560763-65560813	NHDF-neo	bronchial:	n/a
7	chr11:65560763-65560813	Caco-2	colon:	n/a
8	chr11:65560763-65560813	PFSK-1	brain:	n/a
9	chr11:65560763-65560813	HRCEpiC	kidney:	n/a
10	chr11:65560763-65560813	GM12878	blood:	n/a
11	chr11:65560763-65560813	MCF-7	breast:	n/a
12	chr11:65560763-65560813	ECC-1	luminal epithelium:	n/a
13	chr11:65560763-65560813	HRPEpiC	eye:	n/a
14	chr11:65560763-65560813	CMK	blood:	n/a
15	chr11:65560763-65560813	SK-N-SH	brain:	n/a
16	chr11:65560763-65560813	GM06990	blood:	n/a
17	chr11:65560763-65560813	A549	lung:	n/a
18	chr11:65560763-65560813	HUVEC	blood vessel:	n/a
19	chr11:65560763-65560813	PrEC	prostate:	n/a
20	chr11:65560763-65560813	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:65560763-65560813	HepG2	liver:	n/a
22	chr11:65560763-65560813	NT2-D1	testis:	n/a
23	chr11:65560763-65560813	HCM	heart:	n/a
24	chr11:65560763-65560813	Hepatocyte	liver:	n/a
25	chr11:65560763-65560813	H1-hESC	embryonic stem cell:	embryo
26	chr11:65560763-65560813	LNCaP	prostate:	n/a
27	chr11:65560763-65560813	HCT-116	colon:	n/a
28	chr11:65560763-65560813	T-47D	breast:	n/a
29	chr11:65560763-65560813	HEK293	kidney:	embryo
30	chr11:65560763-65560813	SK-N-MC	brain:	n/a
31	chr11:65560763-65560813	K562	blood:	n/a
32	chr11:65560763-65560813	Jurkat	blood:	n/a
33	chr11:65560763-65560813	GM12892	blood:	n/a
34	chr11:65560763-65560813	AG09319	gingival:	n/a
35	chr11:65560763-65560813	HCF	heart:	n/a
36	chr11:65560763-65560813	HNPCEpiC	eye:	n/a
37	chr11:65560763-65560813	AG04450	lung:	fetal
38	chr11:65560763-65560813	RPTEC	kidney:	n/a
39	chr11:65560763-65560813	AG04449	skin:	fetal
40	chr11:65560763-65560813	SAEC	small airway:	n/a
41	chr11:65560763-65560813	MCF10A-Er-Src	breast:	n/a
42	chr11:65560763-65560813	HEEpiC	esophagus:	n/a
43	chr11:65560763-65560813	GM19239	blood:	n/a
44	chr11:65560763-65560813	NH-A	brain:	n/a
45	chr11:65560763-65560813	NB4	blood:	n/a
46	chr11:65560763-65560813	HRE	kidney:	n/a
47	chr11:65560763-65560813	HL-60	blood:	n/a
48	chr11:65560763-65560813	IMR90	lung:	fetal
49	chr11:65560763-65560813	SKMC	muscle:	n/a
50	chr11:65560763-65560813	SK-N-SH_RA	brain:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65559464..65561142-chr11:65583061..65585771,2	MCF-7	breast:
2	chr11:65544951..65562337-chr11:65623093..65630859,34	MCF-7	breast:
3	chr11:65558959..65560820-chr11:65769398..65772357,2	MCF-7	breast:
4	chr11:65556556..65561389-chr11:65623769..65628916,7	MCF-7	breast:
5	chr11:65416969..65422455-chr11:65556396..65561611,5	MCF-7	breast:
6	chr11:65558660..65561085-chr11:65567276..65569327,2	K562	blood:
7	chr11:65552279..65555050-chr11:65558664..65561977,4	K562	blood:
8	chr11:65557488..65562536-chr11:65655379..65657877,5	K562	blood:
9	chr11:65479281..65481159-chr11:65560377..65563374,2	K562	blood:
10	chr11:65560499..65563074-chr11:65564345..65566524,4	MCF-7	breast:
11	chr11:65547412..65548155-chr11:65560456..65561079,2	K562	blood:

No data

Variant related genes	Relation type
OVOL1-AS1	TF binding region
OVOL1	TF binding region
OVOL1-AS1	CpG island
OVOL1	CpG island
ENSG00000175376	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000255404	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172818	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12797706	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12800057	0.85[YRI][hapmap]
rs2276133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs557675	0.91[CHB][hapmap];0.85[YRI][hapmap]
rs642803	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs644740	0.91[CHB][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65555800-65562000	Enhancers	HMEC	breast
2	chr11:65556000-65562000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:65556200-65561600	Enhancers	Pancreas	Pancrea
4	chr11:65556400-65561600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:65556400-65561800	Enhancers	Stomach Mucosa	stomach
6	chr11:65557400-65563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:65557800-65561200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr11:65557800-65561600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:65558000-65562000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:65558000-65564400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:65558200-65560800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:65558200-65561800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:65558200-65562600	Genic enhancers	Fetal Intestine Small	intestine
14	chr11:65558200-65564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:65558200-65568800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:65558400-65561200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:65558400-65561800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:65558400-65566200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:65558600-65562600	Genic enhancers	Fetal Intestine Large	intestine
20	chr11:65559000-65562200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:65559200-65561600	Enhancers	Gastric	stomach
22	chr11:65559200-65566000	Weak transcription	Small Intestine	intestine
23	chr11:65559600-65561000	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:65559600-65561200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:65559600-65561400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:65559800-65560800	Flanking Active TSS	Hela-S3	cervix
27	chr11:65559800-65561000	Enhancers	Colonic Mucosa	Colon
28	chr11:65559800-65561000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:65559800-65570600	Weak transcription	Spleen	Spleen
30	chr11:65560000-65561200	Active TSS	Esophagus	oesophagus
31	chr11:65560200-65560800	Bivalent Enhancer	HepG2	liver
32	chr11:65560400-65565600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:65560600-65560800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr11:65560600-65560800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:65560600-65561000	Weak transcription	Placenta	Placenta
36	chr11:65560600-65561000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:65560600-65561200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr11:65560600-65561600	Enhancers	NHEK	skin
39	chr11:65560600-65564000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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