Variant report

Variant	rs3781931
Chromosome Location	chr11:72327205-72327206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72327160-72327210	HEK293	kidney:	embryo
2	chr11:72327160-72327210	H1-hESC	embryonic stem cell:	embryo
3	chr11:72327160-72327210	NH-A	brain:	n/a
4	chr11:72327160-72327210	HMEC	breast:	n/a
5	chr11:72327160-72327210	BJ	skin:	n/a
6	chr11:72327160-72327210	HEEpiC	esophagus:	n/a
7	chr11:72327160-72327210	GM12878	blood:	n/a
8	chr11:72327160-72327210	AG04449	skin:	fetal
9	chr11:72327160-72327210	GM12891	blood:	n/a
10	chr11:72327160-72327210	MCF-7	breast:	n/a
11	chr11:72327160-72327210	HAEpiC	amniotic membrane:	n/a
12	chr11:72327160-72327210	NT2-D1	testis:	n/a
13	chr11:72327160-72327210	SK-N-MC	brain:	n/a
14	chr11:72327160-72327210	A549	lung:	n/a
15	chr11:72327160-72327210	GM19239	blood:	n/a
16	chr11:72327160-72327210	Jurkat	blood:	n/a
17	chr11:72327160-72327210	CMK	blood:	n/a
18	chr11:72327160-72327210	AoSMC	blood vessel:	n/a
19	chr11:72327160-72327210	AG09319	gingival:	n/a
20	chr11:72327160-72327210	SK-N-SH	brain:	n/a
21	chr11:72327160-72327210	T-47D	breast:	n/a
22	chr11:72327160-72327210	HCPEpiC	choroid plexus:	n/a
23	chr11:72327160-72327210	PANC-1	pancreas:	n/a
24	chr11:72327160-72327210	ProgFib	skin:	n/a
25	chr11:72327160-72327210	Hela-S3	cervix:	n/a
26	chr11:72327160-72327210	HepG2	liver:	n/a
27	chr11:72327160-72327210	HRE	kidney:	n/a
28	chr11:72327160-72327210	HRPEpiC	eye:	n/a
29	chr11:72327160-72327210	NHDF-neo	bronchial:	n/a
30	chr11:72327160-72327210	GM06990	blood:	n/a
31	chr11:72327160-72327210	IMR90	lung:	fetal
32	chr11:72327160-72327210	HCM	heart:	n/a
33	chr11:72327160-72327210	ovcar-3	ovarian:	n/a
34	chr11:72327160-72327210	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:72327160-72327210	K562	blood:	n/a
36	chr11:72327160-72327210	PrEC	prostate:	n/a
37	chr11:72327160-72327210	NB4	blood:	n/a
38	chr11:72327160-72327210	Caco-2	colon:	n/a
39	chr11:72327160-72327210	SK-N-SH_RA	brain:	n/a
40	chr11:72327160-72327210	ECC-1	luminal epithelium:	n/a
41	chr11:72327160-72327210	HUVEC	blood vessel:	n/a
42	chr11:72327160-72327210	LNCaP	prostate:	n/a
43	chr11:72327160-72327210	AG10803	skin:	n/a
44	chr11:72327160-72327210	AG04450	lung:	fetal
45	chr11:72327160-72327210	HCF	heart:	n/a
46	chr11:72327160-72327210	BE2_C	brain:	n/a
47	chr11:72327160-72327210	MCF10A-Er-Src	breast:	n/a
48	chr11:72327160-72327210	RPTEC	kidney:	n/a
49	chr11:72327160-72327210	NHBE	bronchial:	n/a
50	chr11:72327160-72327210	AG09309	skin:	n/a

No data

Variant related genes	Relation type
MIR139	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11235547	1.00[ASW][hapmap];0.94[CEU][hapmap];0.80[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1513780	1.00[CEU][hapmap];0.95[GIH][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs3781934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944563	0.93[EUR][1000 genomes]
rs4944566	0.91[EUR][1000 genomes]
rs55738331	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55861597	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56210510	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs754042	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs755933	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:36 , 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	chr11:72324400-72329200	Enhancers	Fetal Brain Female	brain
5	chr11:72324400-72330000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:72324400-72331000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:72324600-72329400	Enhancers	Brain Hippocampus Middle	brain
8	chr11:72324600-72329400	Enhancers	Right Atrium	heart
9	chr11:72324800-72331200	Enhancers	Brain Cingulate Gyrus	brain
10	chr11:72325000-72328400	Enhancers	Colon Smooth Muscle	Colon
11	chr11:72325200-72329600	Enhancers	Brain Anterior Caudate	brain
12	chr11:72325400-72327400	Weak transcription	Lung	lung
13	chr11:72325400-72329800	Enhancers	Brain Angular Gyrus	brain
14	chr11:72325400-72330000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:72325600-72329600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:72325600-72331400	Enhancers	Adipose Nuclei	Adipose
17	chr11:72325800-72328200	Weak transcription	Fetal Lung	lung
18	chr11:72326000-72328000	Weak transcription	Fetal Heart	heart
19	chr11:72326000-72328000	Weak transcription	Ovary	ovary
20	chr11:72326200-72327600	Enhancers	Esophagus	oesophagus
21	chr11:72326200-72327600	Weak transcription	Left Ventricle	heart
22	chr11:72326200-72331600	Weak transcription	Primary B cells from cord blood	blood
23	chr11:72326400-72327400	Weak transcription	HSMMtube	muscle
24	chr11:72326400-72329600	Enhancers	Brain Germinal Matrix	brain
25	chr11:72326600-72331400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:72326600-72332800	Genic enhancers	Spleen	Spleen
27	chr11:72326800-72327600	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:72326800-72328400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:72326800-72328600	Enhancers	Fetal Muscle Leg	muscle
30	chr11:72327000-72327800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:72327000-72327800	Weak transcription	Right Ventricle	heart
32	chr11:72327000-72328000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:72327200-72327600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr11:72327200-72328000	Genic enhancers	Stomach Smooth Muscle	stomach
35	chr11:72327200-72330600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:72327200-72330800	Enhancers	Fetal Stomach	stomach

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