Variant report

Variant	rs10984462
Chromosome Location	chr9:100707255-100707256
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr9:100706834-100707343	K562	blood:	n/a	n/a
2	GATA1	chr9:100706797-100707398	PBDE	blood:	n/a	n/a
3	CEBPD	chr9:100706868-100707396	K562	blood:	n/a	n/a
4	TAL1	chr9:100706943-100707319	K562	blood:	n/a	n/a
5	GATA2	chr9:100706991-100707353	K562	blood:	n/a	n/a
6	JUND	chr9:100707000-100707393	K562	blood:	n/a	n/a
7	CEBPD	chr9:100706936-100707385	K562	blood:	n/a	n/a
8	JUN	chr9:100707046-100707445	K562	blood:	n/a	n/a
9	TEAD4	chr9:100706468-100707452	K562	blood:	n/a	n/a
10	ATF1	chr9:100706996-100707309	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100705974..100707868-chr9:100818803..100821487,2	K562	blood:
2	chr9:100705963..100708319-chr9:100744697..100747203,2	MCF-7	breast:
3	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
4	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:

No data

Variant related genes	Relation type
HEMGN	TF binding region
ENSG00000136938	Chromatin interaction
ENSG00000236896	Chromatin interaction
ENSG00000095380	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10760021	0.84[JPT][hapmap]
rs10984193	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10984297	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10984349	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10984361	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs10984375	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10984405	0.84[ASN][1000 genomes]
rs10984478	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10984484	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10984499	0.91[ASN][1000 genomes]
rs10984588	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10984599	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1127703	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12235434	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12236440	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12237296	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12377604	0.96[ASN][1000 genomes]
rs1475695	0.92[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs1475696	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17346310	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17431614	0.82[ASN][1000 genomes]
rs17431934	0.96[ASN][1000 genomes]
rs3780416	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3780417	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3780418	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3780419	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808894	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs3824496	0.82[ASN][1000 genomes]
rs4498663	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4618817	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4743145	0.82[ASN][1000 genomes]
rs62574034	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62574035	0.83[EUR][1000 genomes]
rs66990486	0.82[ASN][1000 genomes]
rs67500034	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67975003	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68053069	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68112593	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7024281	0.87[AMR][1000 genomes]
rs7025609	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7030887	0.82[CHB][hapmap];0.93[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7030907	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs7040232	0.90[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72753548	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72753572	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753587	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs755109	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7855917	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7861658	0.82[ASN][1000 genomes]
rs7864655	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1048135	chr9:100666931-100717030	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10984462	C9orf156	cis	multi-tissue	Pritchard

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100701800-100713000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr9:100705000-100707400	Flanking Active TSS	K562	blood
3	chr9:100706800-100713200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:100707200-100709600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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