Variant report

Variant	rs10780360
Chromosome Location	chr9:72026244-72026245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71939359..71941808-chr9:72025736..72028094,2	MCF-7	breast:
2	chr9:72005489..72008452-chr9:72026108..72027745,2	K562	blood:

Variant related genes	Relation type
ENSG00000135063	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10116389	0.86[JPT][hapmap]
rs10217407	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs10283713	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs10283788	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1029064	0.82[CHB][hapmap]
rs1029065	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs10746594	0.85[JPT][hapmap]
rs10780344	0.81[JPT][hapmap]
rs10780361	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10867403	0.89[YRI][hapmap]
rs10867423	0.92[JPT][hapmap]
rs10867477	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10867481	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10867647	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs10867671	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs10867672	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1113067	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs11138400	1.00[YRI][hapmap]
rs11138419	1.00[YRI][hapmap]
rs11138491	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11138566	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11138581	0.82[ASN][1000 genomes]
rs11138927	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs11138980	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs11138986	0.82[JPT][hapmap]
rs11139043	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs11139050	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs11139160	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs11139181	0.85[JPT][hapmap]
rs11788742	0.82[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap]
rs12235168	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs12238067	0.85[JPT][hapmap]
rs12344522	0.82[CHB][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap]
rs12348063	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1331972	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1331979	0.82[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs1334312	0.86[JPT][hapmap]
rs1761290	0.80[ASN][1000 genomes]
rs1929896	0.86[JPT][hapmap]
rs2244720	0.86[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2297421	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs2309431	0.86[JPT][hapmap]
rs2777866	0.86[JPT][hapmap]
rs2777878	0.86[JPT][hapmap]
rs2781521	0.86[JPT][hapmap]
rs2781522	0.86[JPT][hapmap]
rs2781527	0.87[ASN][1000 genomes]
rs35625426	0.87[ASN][1000 genomes]
rs3858105	0.81[JPT][hapmap]
rs3897966	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs3934600	0.86[JPT][hapmap]
rs4237234	0.86[JPT][hapmap]
rs4483220	0.86[JPT][hapmap]
rs4484762	0.86[JPT][hapmap]
rs4744570	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4744886	0.81[JPT][hapmap]
rs4744894	0.86[JPT][hapmap]
rs4744895	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4744910	0.85[JPT][hapmap]
rs4744911	0.85[JPT][hapmap]
rs62570234	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62570235	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62570236	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62570237	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62570239	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6559488	0.80[JPT][hapmap]
rs6559489	0.81[JPT][hapmap]
rs6559498	0.92[JPT][hapmap]
rs6559513	0.85[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs6559527	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7043451	0.84[JPT][hapmap]
rs7044071	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs7046199	0.85[JPT][hapmap]
rs7357615	0.83[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs7856778	0.86[JPT][hapmap]
rs7866250	0.92[JPT][hapmap]
rs885174	0.82[ASN][1000 genomes]
rs932967	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv893430	chr9:71968730-72036369	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv893431	chr9:72003036-72048098	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv8522	chr9:72009272-72034735	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2757340	chr9:72018246-72048098	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv2759694	chr9:72018246-72048098	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72007600-72026800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:72010000-72027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:72011000-72026800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:72013200-72027800	Weak transcription	Brain Substantia Nigra	brain
5	chr9:72024400-72027000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr9:72025000-72027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:72025000-72027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:72025400-72027200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:72025400-72027400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:72025600-72027600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:72026200-72027000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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