Variant report

Variant	rs1141714
Chromosome Location	chr1:221912361-221912362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:221912225-221912755	PFSK-1	brain:	n/a	n/a
2	ZNF384	chr1:221912222-221912386	GM12878	blood:	n/a	n/a
3	REST	chr1:221912319-221912687	U87	brain:	n/a	n/a
4	POLR2A	chr1:221909168-221918546	GM12878	blood:	n/a	n/a
5	REST	chr1:221912359-221912918	U87	brain:	n/a	n/a
6	REST	chr1:221912222-221912851	PFSK-1	brain:	n/a	n/a
7	REST	chr1:221912316-221912678	SK-N-SH	brain:	n/a	n/a
8	REST	chr1:221912354-221912631	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr1:221909243-221918347	GM12878	blood:	n/a	n/a
10	CCNT2	chr1:221912100-221912915	K562	blood:	n/a	n/a
11	POLR2A	chr1:221909298-221917710	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:221905289-221917384	K562	blood:	n/a	n/a
13	JUND	chr1:221912358-221912691	K562	blood:	n/a	n/a
14	REST	chr1:221912361-221912721	U87	brain:	n/a	n/a
15	ZNF143	chr1:221912354-221912610	GM12878	blood:	n/a	n/a
16	STAT5A	chr1:221911759-221912482	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:221910862-221912560	MCF10A-Er-Src	breast:	n/a	n/a
18	REST	chr1:221912313-221912702	GM12878	blood:	n/a	n/a
19	WRNIP1	chr1:221911967-221916057	GM12878	blood:	n/a	n/a
20	MAX	chr1:221912346-221912376	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:221909055-221918437	GM12891	blood:	n/a	n/a
22	TBL1XR1	chr1:221912349-221912503	K562	blood:	n/a	n/a
23	POLR2A	chr1:221911813-221913210	GM12892	blood:	n/a	n/a
24	POLR2A	chr1:221909363-221918298	GM12878	blood:	n/a	n/a
25	POLR2A	chr1:221910749-221912879	GM12892	blood:	n/a	n/a
26	EP300	chr1:221911858-221912383	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221900620..221902911-chr1:221912175..221914927,2	MCF-7	breast:

No data

Variant related genes	Relation type
DUSP10	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11118845	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4317817	0.96[ASN][1000 genomes]
rs4319339	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846351	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6690778	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1141714	TGFB2	cis	parietal	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221891800-221913000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:221893000-221913600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:221897200-221914200	Weak transcription	Aorta	Aorta
4	chr1:221897400-221913400	Weak transcription	HepG2	liver
5	chr1:221898600-221913600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:221899400-221912400	Weak transcription	Esophagus	oesophagus
7	chr1:221899600-221912400	Weak transcription	Thymus	Thymus
8	chr1:221901400-221913800	Weak transcription	Placenta	Placenta
9	chr1:221901800-221913600	Weak transcription	Hela-S3	cervix
10	chr1:221901800-221913800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:221903800-221912400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:221904000-221912400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:221904000-221912600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:221904000-221913800	Weak transcription	Ovary	ovary
15	chr1:221905800-221913400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:221906400-221912400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:221906400-221913000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:221907600-221912600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:221907600-221912800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:221907600-221913600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
21	chr1:221907800-221913200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:221908400-221913000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
23	chr1:221908600-221913400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:221908800-221913000	Genic enhancers	Monocytes-CD14+_RO01746	blood
25	chr1:221908800-221913200	Weak transcription	Fetal Heart	heart
26	chr1:221909000-221912800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
27	chr1:221909000-221913000	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:221909000-221913400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:221909200-221912400	Genic enhancers	Pancreas	Pancrea
30	chr1:221909200-221913000	Transcr. at gene 5' and 3'	Liver	Liver
31	chr1:221909200-221913200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
32	chr1:221909200-221913400	Transcr. at gene 5' and 3'	HMEC	breast
33	chr1:221909400-221912400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:221909400-221913200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:221909400-221913400	Enhancers	Dnd41	blood
36	chr1:221909400-221913800	Transcr. at gene 5' and 3'	HSMM	muscle
37	chr1:221909400-221914400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:221909600-221912600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:221909600-221912600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:221909600-221913400	Weak transcription	Colonic Mucosa	Colon
41	chr1:221909600-221913400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:221909600-221914200	Enhancers	Spleen	Spleen
43	chr1:221909800-221912600	Genic enhancers	Left Ventricle	heart
44	chr1:221909800-221912800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
45	chr1:221910000-221912400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:221910000-221912600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:221910000-221913200	Genic enhancers	Fetal Muscle Leg	muscle
48	chr1:221910200-221912600	Genic enhancers	Primary T cells fromperipheralblood	blood
49	chr1:221910200-221912600	Strong transcription	Fetal Lung	lung
50	chr1:221910200-221912800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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