Variant report

Variant	rs56063168
Chromosome Location	chr11:72326887-72326888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72326797-72326960	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72326842-72326892	GM12891	blood:	n/a
2	chr11:72326842-72326892	H1-hESC	embryonic stem cell:	embryo
3	chr11:72326842-72326892	AG04449	skin:	fetal
4	chr11:72326842-72326892	AG04450	lung:	fetal
5	chr11:72326842-72326892	RPTEC	kidney:	n/a
6	chr11:72326842-72326892	HCT-116	colon:	n/a
7	chr11:72326842-72326892	AoSMC	blood vessel:	n/a
8	chr11:72326842-72326892	ProgFib	skin:	n/a
9	chr11:72326842-72326892	HRE	kidney:	n/a
10	chr11:72326842-72326892	GM19239	blood:	n/a
11	chr11:72326842-72326892	A549	lung:	n/a
12	chr11:72326842-72326892	SK-N-MC	brain:	n/a
13	chr11:72326842-72326892	HCPEpiC	choroid plexus:	n/a
14	chr11:72326842-72326892	HRCEpiC	kidney:	n/a
15	chr11:72326842-72326892	ECC-1	luminal epithelium:	n/a
16	chr11:72326842-72326892	LNCaP	prostate:	n/a
17	chr11:72326842-72326892	HCF	heart:	n/a
18	chr11:72326842-72326892	SK-N-SH	brain:	n/a
19	chr11:72326842-72326892	T-47D	breast:	n/a
20	chr11:72326842-72326892	K562	blood:	n/a
21	chr11:72326842-72326892	NHBE	bronchial:	n/a
22	chr11:72326842-72326892	MCF10A-Er-Src	breast:	n/a
23	chr11:72326842-72326892	NB4	blood:	n/a
24	chr11:72326842-72326892	BJ	skin:	n/a
25	chr11:72326842-72326892	GM06990	blood:	n/a
26	chr11:72326842-72326892	U87	brain:	n/a
27	chr11:72326842-72326892	HNPCEpiC	eye:	n/a
28	chr11:72326842-72326892	Caco-2	colon:	n/a
29	chr11:72326842-72326892	HL-60	blood:	n/a
30	chr11:72326842-72326892	AG10803	skin:	n/a
31	chr11:72326842-72326892	HEEpiC	esophagus:	n/a
32	chr11:72326842-72326892	MCF-7	breast:	n/a
33	chr11:72326842-72326892	ovcar-3	ovarian:	n/a
34	chr11:72326842-72326892	HRPEpiC	eye:	n/a
35	chr11:72326842-72326892	AG09309	skin:	n/a
36	chr11:72326842-72326892	GM12892	blood:	n/a
37	chr11:72326842-72326892	HEK293	kidney:	embryo
38	chr11:72326842-72326892	NH-A	brain:	n/a
39	chr11:72326842-72326892	SKMC	muscle:	n/a
40	chr11:72326842-72326892	CMK	blood:	n/a
41	chr11:72326842-72326892	HUVEC	blood vessel:	n/a
42	chr11:72326842-72326892	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:72326842-72326892	GM12878	blood:	n/a
44	chr11:72326842-72326892	Jurkat	blood:	n/a
45	chr11:72326842-72326892	HIPEpiC	eye:	n/a
46	chr11:72326842-72326892	IMR90	lung:	fetal
47	chr11:72326842-72326892	SK-N-SH_RA	brain:	n/a
48	chr11:72326842-72326892	AG09319	gingival:	n/a
49	chr11:72326842-72326892	HMEC	breast:	n/a
50	chr11:72326842-72326892	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
MIR139	TF binding region
MIR139	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56125066	1.00[EUR][1000 genomes]
rs56272973	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56688852	0.90[AFR][1000 genomes]
rs73544307	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72323800-72330400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr11:72323800-72331600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:72324200-72331400	Enhancers	Fetal Brain Male	brain
4	chr11:72324400-72327000	Enhancers	Right Ventricle	heart
5	chr11:72324400-72329200	Enhancers	Fetal Brain Female	brain
6	chr11:72324400-72330000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:72324400-72331000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr11:72324600-72329400	Enhancers	Brain Hippocampus Middle	brain
9	chr11:72324600-72329400	Enhancers	Right Atrium	heart
10	chr11:72324800-72327200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr11:72324800-72331200	Enhancers	Brain Cingulate Gyrus	brain
12	chr11:72325000-72327000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr11:72325000-72328400	Enhancers	Colon Smooth Muscle	Colon
14	chr11:72325200-72329600	Enhancers	Brain Anterior Caudate	brain
15	chr11:72325400-72327400	Weak transcription	Lung	lung
16	chr11:72325400-72329800	Enhancers	Brain Angular Gyrus	brain
17	chr11:72325400-72330000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:72325600-72329600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:72325600-72331400	Enhancers	Adipose Nuclei	Adipose
20	chr11:72325800-72327200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:72325800-72327200	Enhancers	Stomach Smooth Muscle	stomach
22	chr11:72325800-72328200	Weak transcription	Fetal Lung	lung
23	chr11:72326000-72327000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:72326000-72328000	Weak transcription	Fetal Heart	heart
25	chr11:72326000-72328000	Weak transcription	Ovary	ovary
26	chr11:72326200-72327600	Enhancers	Esophagus	oesophagus
27	chr11:72326200-72327600	Weak transcription	Left Ventricle	heart
28	chr11:72326200-72331600	Weak transcription	Primary B cells from cord blood	blood
29	chr11:72326400-72327000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:72326400-72327400	Weak transcription	HSMMtube	muscle
31	chr11:72326400-72329600	Enhancers	Brain Germinal Matrix	brain
32	chr11:72326600-72331400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:72326600-72332800	Genic enhancers	Spleen	Spleen
34	chr11:72326800-72327000	Enhancers	Liver	Liver
35	chr11:72326800-72327600	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:72326800-72328400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:72326800-72328600	Enhancers	Fetal Muscle Leg	muscle

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