Variant report

Variant	rs545766
Chromosome Location	chr11:63800013-63800014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:63799463-63800024	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr11:63800000-63800150	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63799985-63800035	BJ	skin:	n/a
2	chr11:63799985-63800035	ovcar-3	ovarian:	n/a
3	chr11:63799985-63800035	AG10803	skin:	n/a
4	chr11:63799985-63800035	PFSK-1	brain:	n/a
5	chr11:63799985-63800035	LNCaP	prostate:	n/a
6	chr11:63799985-63800035	HRE	kidney:	n/a
7	chr11:63799985-63800035	Jurkat	blood:	n/a
8	chr11:63799985-63800035	SAEC	small airway:	n/a
9	chr11:63799985-63800035	A549	lung:	n/a
10	chr11:63799985-63800035	HCM	heart:	n/a
11	chr11:63799985-63800035	HRCEpiC	kidney:	n/a
12	chr11:63799985-63800035	H1-hESC	embryonic stem cell:	embryo
13	chr11:63799985-63800035	GM06990	blood:	n/a
14	chr11:63799985-63800035	NT2-D1	testis:	n/a
15	chr11:63799985-63800035	NHBE	bronchial:	n/a
16	chr11:63799985-63800035	GM12878	blood:	n/a
17	chr11:63799985-63800035	AoSMC	blood vessel:	n/a
18	chr11:63799985-63800035	HCF	heart:	n/a
19	chr11:63799985-63800035	AG09309	skin:	n/a
20	chr11:63799985-63800035	Hela-S3	cervix:	n/a
21	chr11:63799985-63800035	SKMC	muscle:	n/a
22	chr11:63799985-63800035	BE2_C	brain:	n/a
23	chr11:63799985-63800035	HCT-116	colon:	n/a
24	chr11:63799985-63800035	NHDF-neo	bronchial:	n/a
25	chr11:63799985-63800035	SK-N-SH	brain:	n/a
26	chr11:63799985-63800035	ProgFib	skin:	n/a
27	chr11:63799985-63800035	RPTEC	kidney:	n/a
28	chr11:63799985-63800035	GM19239	blood:	n/a
29	chr11:63799985-63800035	T-47D	breast:	n/a
30	chr11:63799985-63800035	HL-60	blood:	n/a
31	chr11:63799985-63800035	GM12891	blood:	n/a
32	chr11:63799985-63800035	U87	brain:	n/a
33	chr11:63799985-63800035	MCF-7	breast:	n/a
34	chr11:63799985-63800035	NB4	blood:	n/a
35	chr11:63799985-63800035	HAEpiC	amniotic membrane:	n/a
36	chr11:63799985-63800035	K562	blood:	n/a
37	chr11:63799985-63800035	HCPEpiC	choroid plexus:	n/a
38	chr11:63799985-63800035	GM12892	blood:	n/a
39	chr11:63799985-63800035	Caco-2	colon:	n/a
40	chr11:63799985-63800035	NH-A	brain:	n/a
41	chr11:63799985-63800035	HepG2	liver:	n/a
42	chr11:63799985-63800035	Hepatocyte	liver:	n/a
43	chr11:63799985-63800035	ECC-1	luminal epithelium:	n/a
44	chr11:63799985-63800035	SK-N-MC	brain:	n/a
45	chr11:63799985-63800035	HEEpiC	esophagus:	n/a
46	chr11:63799985-63800035	MCF10A-Er-Src	breast:	n/a
47	chr11:63799985-63800035	HMEC	breast:	n/a
48	chr11:63799985-63800035	HIPEpiC	eye:	n/a
49	chr11:63799985-63800035	PrEC	prostate:	n/a
50	chr11:63799985-63800035	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63799424..63801976-chr11:63803879..63805403,2	K562	blood:
2	chr11:63799672..63801233-chr11:63804460..63806461,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256824	TF binding region
ENSG00000256824	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs320133	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs320143	0.81[JPT][hapmap]
rs320145	0.81[JPT][hapmap]
rs487811	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs57196716	0.89[ASN][1000 genomes]
rs574250	0.81[JPT][hapmap]
rs73498117	0.93[EUR][1000 genomes]
rs73498121	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh 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	46 gene(s)	inside rSNPs	diseases
4	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
5	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	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
13	nsv897643	chr11:63754986-63844683	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv897644	chr11:63754986-63849330	Bivalent Enhancer Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv897645	chr11:63754986-63859751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	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
17	nsv897647	chr11:63755961-63835611	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	nsv897649	chr11:63761169-63844683	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	nsv897650	chr11:63761169-63849330	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
20	nsv897651	chr11:63761169-63863405	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
21	nsv897652	chr11:63761169-63866959	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
22	nsv897653	chr11:63761169-63875456	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
23	nsv897654	chr11:63772000-63875456	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv897655	chr11:63783352-63844683	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv468591	chr11:63787389-63849812	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	nsv555182	chr11:63787389-63849812	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv832184	chr11:63787702-63925084	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
28	nsv897656	chr11:63797679-63844683	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63786600-63858000	Weak transcription	Hela-S3	cervix
2	chr11:63796400-63802200	Weak transcription	Brain Substantia Nigra	brain
3	chr11:63796600-63802600	Weak transcription	Ovary	ovary
4	chr11:63796600-63802600	Weak transcription	Right Ventricle	heart
5	chr11:63796800-63802400	Weak transcription	Pancreas	Pancrea
6	chr11:63797200-63801800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:63797600-63800400	Weak transcription	Fetal Brain Female	brain
8	chr11:63797800-63802600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:63798000-63800600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:63798000-63802000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:63798000-63802000	Weak transcription	Brain Germinal Matrix	brain
12	chr11:63798000-63802400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:63798400-63802400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:63798600-63802400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:63799400-63800200	Enhancers	A549	lung
16	chr11:63799400-63800800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:63799400-63800800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:63799400-63800800	Enhancers	Spleen	Spleen
19	chr11:63799600-63800800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr11:63800000-63802600	Weak transcription	Psoas Muscle	Psoas

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