Variant report

Variant	rs10147297
Chromosome Location	chr14:20644642-20644643
allele	C/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	TAL1	chr14:20644523-20645057	K562	blood:	n/a	n/a
2	EP300	chr14:20644024-20645140	K562	blood:	n/a	chr14:20644884-20644898 chr14:20644723-20644731 chr14:20644882-20644896
3	GATA3	chr14:20644374-20644963	SK-N-SH	brain:	n/a	n/a
4	CUX1	chr14:20644629-20644828	K562	blood:	n/a	n/a
5	CEBPB	chr14:20644555-20644849	K562	blood:	n/a	chr14:20644780-20644791 chr14:20644718-20644735 chr14:20644780-20644791
6	EP300	chr14:20644377-20645000	SK-N-SH	brain:	n/a	chr14:20644884-20644898 chr14:20644723-20644731 chr14:20644882-20644896
7	ARID3A	chr14:20644582-20645133	K562	blood:	n/a	n/a
8	CEBPB	chr14:20644548-20644852	K562	blood:	n/a	chr14:20644780-20644791 chr14:20644718-20644735 chr14:20644780-20644791
9	MYC	chr14:20644398-20644873	K562	blood:	n/a	n/a
10	TCF12	chr14:20644347-20644989	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr14:20644344-20644976	SK-N-SH	brain:	n/a	n/a
12	EP300	chr14:20644430-20644877	K562	blood:	n/a	chr14:20644723-20644731
13	TBL1XR1	chr14:20644572-20644821	K562	blood:	n/a	n/a
14	JUND	chr14:20644540-20644854	K562	blood:	n/a	n/a
15	PBX3	chr14:20644409-20644840	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr14:20644370-20645024	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr14:20644438-20644904	SK-N-SH	brain:	n/a	n/a
18	TEAD4	chr14:20644397-20644893	K562	blood:	n/a	n/a
19	MYC	chr14:20644566-20644810	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20642540..20645135-chr14:20796578..20798741,2	K562	blood:

Variant related genes	Relation type
ENSG00000259095	TF binding region
OR11G1P	TF binding region
ENSG00000100814	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10047823	0.90[ASN][1000 genomes]
rs10131163	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10131326	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10131458	0.84[AFR][1000 genomes]
rs10132766	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10132976	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10133654	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10134050	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10134238	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10134272	0.90[ASN][1000 genomes]
rs10134379	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10134472	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10136358	0.90[ASN][1000 genomes]
rs10136968	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10137715	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10138104	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10138347	0.95[AFR][1000 genomes]
rs10140908	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10141025	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10142603	0.90[ASN][1000 genomes]
rs10143483	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10143489	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10146971	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10147272	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10147782	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10149305	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10149446	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10151477	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10220676	0.90[ASN][1000 genomes]
rs11159010	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11159012	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17308206	1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28408764	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28590595	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28605214	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs56283929	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs56814452	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs57614255	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs74033809	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs74033833	0.85[ASN][1000 genomes]
rs74037240	0.90[ASN][1000 genomes]
rs9323583	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9323584	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9323586	0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9323588	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9323589	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901299	chr14:20191869-20756887	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv430745	chr14:20203125-20655466	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv2751268	chr14:20203125-20716841	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv563812	chr14:20404091-20694968	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv1043938	chr14:20427182-20776276	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv541971	chr14:20427182-20776276	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
9	nsv563829	chr14:20445370-20694968	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv428618	chr14:20500951-20660726	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	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
12	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
13	nsv1037890	chr14:20537751-20669240	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv2761819	chr14:20577698-20677591	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv832739	chr14:20604126-20734222	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
16	nsv977615	chr14:20643351-20673001	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20643800-20645200	Weak transcription	Pancreas	Pancrea
2	chr14:20644600-20644800	Flanking Active TSS	K562	blood

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