Variant report

Variant	rs11823728
Chromosome Location	chr11:62676802-62676803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:270)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr11:62676454-62677308	ECC-1	luminal epithelium:	n/a	n/a
2	RAD21	chr11:62676660-62676868	GM12878	blood:	n/a	n/a
3	CTCF	chr11:62676720-62676870	RPTEC	kidney:	n/a	n/a
4	CTCF	chr11:62676720-62676870	AG10803	skin:	n/a	n/a
5	RCOR1	chr11:62676643-62676922	K562	blood:	n/a	n/a
6	CTCF	chr11:62676700-62676850	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr11:62676660-62676914	Hela-S3	cervix:	n/a	n/a
8	SMC3	chr11:62676692-62676927	HepG2	liver:	n/a	n/a
9	CTCF	chr11:62676673-62676921	Lung_OC	lung:	n/a	n/a
10	CTCF	chr11:62676607-62676940	K562	blood:	n/a	n/a
11	RAD21	chr11:62676584-62677018	HepG2	liver:	n/a	n/a
12	TCF12	chr11:62676484-62677291	ECC-1	luminal epithelium:	n/a	n/a
13	CTCF	chr11:62676700-62676850	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr11:62676700-62676850	A549	lung:	n/a	n/a
15	RAD21	chr11:62675800-62677202	SK-N-SH	brain:	n/a	n/a
16	CTCFL	chr11:62676639-62676835	K562	blood:	n/a	n/a
17	ZNF143	chr11:62676626-62676944	K562	blood:	n/a	n/a
18	CTBP2	chr11:62676636-62677429	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr11:62676638-62676916	A549	lung:	n/a	n/a
20	CTCF	chr11:62676372-62677552	A549	lung:	n/a	n/a
21	CTCF	chr11:62676660-62676810	GM12873	blood:	n/a	n/a
22	CTCF	chr11:62676664-62676909	NHEK	skin:	n/a	n/a
23	CTCF	chr11:62676740-62676890	AG10803	skin:	n/a	n/a
24	FOXA1	chr11:62676702-62676995	T-47D	breast:	n/a	n/a
25	CTCF	chr11:62676700-62676850	HEK293	kidney:	n/a	n/a
26	CTCF	chr11:62676680-62676830	GM12869	blood:	n/a	n/a
27	POLR2A	chr11:62676774-62677342	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr11:62676632-62677160	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr11:62676740-62677010	A549	lung:	n/a	n/a
30	CTCF	chr11:62676643-62676924	T-47D	breast:	n/a	n/a
31	CTCF	chr11:62676700-62676850	GM12875	blood:	n/a	n/a
32	TEAD4	chr11:62676690-62677211	ECC-1	luminal epithelium:	n/a	n/a
33	CTCF	chr11:62676700-62676850	AG09319	gingival:	n/a	n/a
34	CTCF	chr11:62676720-62676870	GM12874	blood:	n/a	n/a
35	CTCF	chr11:62676780-62676930	WI-38	lung:	n/a	n/a
36	CTCF	chr11:62676680-62676830	BJ	skin:	n/a	n/a
37	CTCF	chr11:62676720-62676870	HUVEC	blood vessel:	n/a	n/a
38	RAD21	chr11:62676630-62676964	HepG2	liver:	n/a	n/a
39	CTCFL	chr11:62676675-62676892	K562	blood:	n/a	n/a
40	CTCF	chr11:62676700-62676850	GM12864	blood:	n/a	n/a
41	CTCF	chr11:62676700-62676850	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr11:62676700-62676850	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr11:62676660-62676810	HFF-Myc	foreskin:	n/a	n/a
44	ZNF143	chr11:62676602-62677363	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr11:62676583-62676969	Hela-S3	cervix:	n/a	n/a
46	FOS	chr11:62676671-62676904	MCF10A-Er-Src	breast:	n/a	n/a
47	ATF2	chr11:62676446-62677201	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr11:62676669-62676864	SK-N-SH_RA	brain:	n/a	n/a
49	RAD21	chr11:62676580-62676997	IMR90	lung:	n/a	n/a
50	SMC3	chr11:62676473-62677092	SK-N-SH	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62676072..62679546-chr11:62682200..62691147,12	MCF-7	breast:
2	chr11:62675954..62676953-chr11:62787759..62789619,6	MCF-7	breast:
3	chr11:62676328..62676852-chr11:62787773..62788325,2	K562	blood:
4	chr11:62676265..62676873-chr11:62979808..62980394,3	K562	blood:
5	chr11:62607202..62610335-chr11:62674353..62678655,4	MCF-7	breast:
6	chr11:62670875..62680186-chr11:62684644..62693105,18	MCF-7	breast:
7	chr11:62676021..62676832-chr11:62791397..62792166,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257002	TF binding region
ENSG00000168539	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11568621	1.00[JPT][hapmap]
rs11568628	1.00[JPT][hapmap]
rs11568629	1.00[JPT][hapmap]
rs2067478	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530752	0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription 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 target site	263 gene(s)	inside rSNPs	diseases
4	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62672800-62686200	Weak transcription	Fetal Brain Female	brain
2	chr11:62673600-62679000	Weak transcription	K562	blood
3	chr11:62675600-62678800	Enhancers	Lung	lung
4	chr11:62675800-62677000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr11:62675800-62677200	Enhancers	Fetal Heart	heart
6	chr11:62675800-62677400	Enhancers	Fetal Muscle Leg	muscle
7	chr11:62675800-62677400	Enhancers	Fetal Stomach	stomach
8	chr11:62675800-62677600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:62675800-62677600	Enhancers	Brain Hippocampus Middle	brain
10	chr11:62675800-62678000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:62675800-62678600	Enhancers	Pancreas	Pancrea
12	chr11:62676000-62677000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:62676000-62677000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:62676000-62677000	Enhancers	Gastric	stomach
15	chr11:62676000-62677000	Enhancers	Left Ventricle	heart
16	chr11:62676000-62677200	Genic enhancers	Brain Germinal Matrix	brain
17	chr11:62676000-62677200	Enhancers	Stomach Smooth Muscle	stomach
18	chr11:62676000-62677400	Enhancers	Esophagus	oesophagus
19	chr11:62676000-62677400	Enhancers	Fetal Lung	lung
20	chr11:62676000-62677400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr11:62676000-62677400	Enhancers	Right Ventricle	heart
22	chr11:62676000-62677400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr11:62676000-62677400	Enhancers	Stomach Mucosa	stomach
24	chr11:62676000-62677600	Enhancers	Adipose Nuclei	Adipose
25	chr11:62676000-62677600	Enhancers	Colonic Mucosa	Colon
26	chr11:62676000-62677600	Enhancers	Right Atrium	heart
27	chr11:62676000-62677600	Enhancers	Spleen	Spleen
28	chr11:62676000-62677800	Enhancers	Brain Angular Gyrus	brain
29	chr11:62676000-62679000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:62676200-62677000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr11:62676200-62677000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:62676200-62677000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:62676200-62677000	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:62676200-62677200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr11:62676200-62677200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:62676200-62677200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:62676200-62677200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:62676200-62677200	Enhancers	HMEC	breast
39	chr11:62676200-62677400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:62676200-62677400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:62676200-62677400	Enhancers	Fetal Intestine Large	intestine
42	chr11:62676200-62677400	Enhancers	Fetal Intestine Small	intestine
43	chr11:62676200-62677400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:62676200-62677600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:62676200-62677600	Enhancers	Brain Anterior Caudate	brain
46	chr11:62676200-62678200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:62676200-62678600	Enhancers	Placenta	Placenta
48	chr11:62676400-62677000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:62676400-62677200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:62676400-62677400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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