Variant report

Variant	rs10498267
Chromosome Location	chr14:20802315-20802316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:20801666-20802986	K562	blood:	n/a	n/a
2	ARID3A	chr14:20800589-20802435	HepG2	liver:	n/a	n/a
3	FOXA1	chr14:20801444-20802399	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20772439..20773954-chr14:20799516..20802559,3	MCF-7	breast:
2	chr14:20799910..20803108-chr14:21077284..21081292,4	MCF-7	breast:
3	chr14:20798903..20803027-chr14:20936310..20943107,9	K562	blood:
4	chr14:20800280..20802901-chr14:20881466..20884114,2	MCF-7	breast:
5	chr14:20800915..20803438-chr14:20928341..20931027,5	MCF-7	breast:
6	chr14:20800808..20802986-chr14:20935498..20938072,2	MCF-7	breast:
7	chr14:20801069..20803157-chr14:20936846..20938434,2	MCF-7	breast:
8	chr14:20795171..20799091-chr14:20799468..20802404,5	MCF-7	breast:
9	chr14:20799471..20803739-chr14:20921169..20925160,5	MCF-7	breast:

No data

Variant related genes	Relation type
CCNB1IP1	TF binding region
ENSG00000100814	Chromatin interaction
ENSG00000129566	Chromatin interaction
ENSG00000100823	Chromatin interaction
ENSG00000258459	Chromatin interaction
ENSG00000200225	Chromatin interaction
ENSG00000092094	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000165782	Chromatin interaction
ENSG00000173464	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10131757	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3093879	1.00[EUR][1000 genomes]
rs3093887	1.00[EUR][1000 genomes]
rs3093889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3093891	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3093895	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3093911	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3093927	0.84[ASW][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56303826	1.00[EUR][1000 genomes]
rs7156217	0.92[ASW][hapmap];1.00[GIH][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7160447	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74033873	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20801600-20802400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:20801600-20802400	Flanking Active TSS	Liver	Liver
3	chr14:20801600-20802400	Weak transcription	Pancreas	Pancrea
4	chr14:20801600-20802400	Flanking Active TSS	HepG2	liver
5	chr14:20801800-20803000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:20801800-20803200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:20801800-20803400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:20801800-20804600	Weak transcription	K562	blood
9	chr14:20802000-20802400	Enhancers	Primary B cells from cord blood	blood
10	chr14:20802000-20802400	Enhancers	Primary T cells from cord blood	blood
11	chr14:20802000-20802400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr14:20802000-20802400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:20802000-20802400	Enhancers	Thymus	Thymus
14	chr14:20802000-20802600	Enhancers	Ovary	ovary
15	chr14:20802000-20802800	Enhancers	Dnd41	blood
16	chr14:20802000-20803000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:20802000-20803000	Weak transcription	A549	lung
18	chr14:20802000-20803200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:20802000-20803200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:20802000-20803200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:20802000-20803200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:20802000-20803200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:20802000-20803400	Enhancers	Primary B cells from peripheral blood	blood
24	chr14:20802000-20809600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:20802000-20810400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:20802200-20802400	Enhancers	GM12878-XiMat	blood
27	chr14:20802200-20803200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:20802200-20803400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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