Variant report

Variant	rs943003
Chromosome Location	chr6:132141012-132141013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr6:132140724-132141060	GM12891	blood:	n/a	chr6:132140901-132140914 chr6:132140900-132140913 chr6:132140900-132140913 chr6:132140901-132140915 chr6:132140900-132140913
2	GATA2	chr6:132140959-132141241	K562	blood:	n/a	n/a
3	PML	chr6:132140900-132141311	K562	blood:	n/a	n/a
4	POU2F2	chr6:132140683-132141051	GM12878	blood:	n/a	chr6:132140901-132140914 chr6:132140900-132140913 chr6:132140900-132140913 chr6:132140901-132140915 chr6:132140900-132140913
5	RCOR1	chr6:132140913-132141346	K562	blood:	n/a	n/a
6	ZNF384	chr6:132140918-132141302	K562	blood:	n/a	n/a
7	TEAD4	chr6:132140880-132141384	K562	blood:	n/a	n/a
8	TEAD4	chr6:132140976-132141271	K562	blood:	n/a	n/a
9	CEBPB	chr6:132140615-132141122	IMR90	lung:	n/a	chr6:132140652-132140665
10	POU2F2	chr6:132140725-132141044	GM12891	blood:	n/a	chr6:132140901-132140914 chr6:132140900-132140913 chr6:132140900-132140913 chr6:132140901-132140915 chr6:132140900-132140913
11	EP300	chr6:132140989-132141293	K562	blood:	n/a	n/a
12	RCOR1	chr6:132140567-132141508	IMR90	lung:	n/a	n/a
13	MAFK	chr6:132141000-132141290	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132126867..132133246-chr6:132138030..132146402,10	MCF-7	breast:
2	chr6:132126588..132131688-chr6:132138399..132143000,6	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE9-2	chr6:132140943-132141231	NONHSAT114927

Variant related genes	Relation type
RN7SKP245	TF binding region
ENSG00000197594	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10457576	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12201710	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1800949	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2021315	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4418212	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6939185	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766592	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7756163	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771841	0.81[CHB][hapmap]
rs9493103	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
4	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132132200-132148800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:132132200-132157800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:132132800-132162400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:132132800-132162800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:132133000-132142400	Weak transcription	Pancreas	Pancrea
6	chr6:132136800-132160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:132137200-132144400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:132138000-132144000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:132138200-132142200	Weak transcription	Fetal Intestine Small	intestine
10	chr6:132138200-132147400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:132138200-132148400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:132138600-132141800	Weak transcription	HepG2	liver
13	chr6:132138600-132163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:132139400-132149000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:132140000-132141600	Enhancers	HSMM	muscle
16	chr6:132140400-132141400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:132140600-132141200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:132140600-132141200	Active TSS	HSMMtube	muscle
19	chr6:132140600-132141400	Enhancers	NHDF-Ad	bronchial
20	chr6:132140600-132141600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:132140600-132141800	Enhancers	Fetal Stomach	stomach
22	chr6:132140600-132142000	Enhancers	NHLF	lung
23	chr6:132140600-132147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:132140800-132141200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:132140800-132141200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:132140800-132141200	Enhancers	Aorta	Aorta
27	chr6:132140800-132141400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:132140800-132141400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:132140800-132141400	Enhancers	Liver	Liver
30	chr6:132140800-132141600	Enhancers	Fetal Muscle Leg	muscle
31	chr6:132140800-132141600	Enhancers	Right Atrium	heart
32	chr6:132141000-132143000	Weak transcription	Osteobl	bone
33	chr6:132141000-132176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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