Variant report

Variant	rs7032046
Chromosome Location	chr9:101022221-101022222
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:6)
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	CTCF	chr9:101022080-101022230	SK-N-SH_RA	brain:	n/a	n/a
2	CTCF	chr9:101022100-101022250	MCF-7	breast:	n/a	n/a
3	JUN	chr9:101021906-101022264	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101016141..101018439-chr9:101020507..101022977,2	MCF-7	breast:
2	chr9:101010134..101012336-chr9:101021281..101022782,2	K562	blood:
3	chr9:101022063..101024175-chr9:101026064..101028233,2	K562	blood:
4	chr9:101016008..101018748-chr9:101020851..101024407,3	MCF-7	breast:
5	chr9:100750457..100752054-chr9:101020861..101022446,2	K562	blood:
6	chr9:100686308..100689678-chr9:101021142..101024168,3	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D2	TF binding region
ENSG00000095383	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10115971	0.88[ASN][1000 genomes]
rs10123643	0.87[ASN][1000 genomes]
rs10124977	0.88[ASN][1000 genomes]
rs10760210	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10760216	0.88[ASN][1000 genomes]
rs10760217	0.88[ASN][1000 genomes]
rs10760218	0.88[ASN][1000 genomes]
rs10818627	0.88[ASN][1000 genomes]
rs10818640	0.88[ASN][1000 genomes]
rs10818644	0.88[ASN][1000 genomes]
rs10818645	0.88[ASN][1000 genomes]
rs10818646	0.88[ASN][1000 genomes]
rs10818648	0.86[ASN][1000 genomes]
rs10818656	0.86[ASN][1000 genomes]
rs10818658	0.88[ASN][1000 genomes]
rs10818662	0.88[ASN][1000 genomes]
rs10818666	0.88[ASN][1000 genomes]
rs10818667	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10818668	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10818672	0.88[ASN][1000 genomes]
rs10818676	0.86[ASN][1000 genomes]
rs10818677	0.86[ASN][1000 genomes]
rs10818678	0.88[ASN][1000 genomes]
rs10818689	0.90[ASN][1000 genomes]
rs10818690	0.90[ASN][1000 genomes]
rs10818691	0.88[ASN][1000 genomes]
rs10818692	0.83[ASN][1000 genomes]
rs10818693	0.83[ASN][1000 genomes]
rs10985517	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10985580	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10985583	0.86[ASN][1000 genomes]
rs10985634	0.90[ASN][1000 genomes]
rs10985641	0.83[ASN][1000 genomes]
rs10985642	0.83[ASN][1000 genomes]
rs10985653	0.83[ASN][1000 genomes]
rs10985669	0.83[ASN][1000 genomes]
rs10985680	0.83[ASN][1000 genomes]
rs10985689	0.83[ASN][1000 genomes]
rs10985711	0.83[ASN][1000 genomes]
rs10985720	0.83[ASN][1000 genomes]
rs10985743	0.81[ASN][1000 genomes]
rs10985745	0.81[ASN][1000 genomes]
rs12237988	0.86[ASN][1000 genomes]
rs12342612	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12346750	0.88[ASN][1000 genomes]
rs1573024	0.88[ASN][1000 genomes]
rs1573025	0.86[ASN][1000 genomes]
rs17766883	0.86[ASN][1000 genomes]
rs17766913	0.86[ASN][1000 genomes]
rs1935389	0.86[ASN][1000 genomes]
rs2900380	0.88[ASN][1000 genomes]
rs4379551	0.88[ASN][1000 genomes]
rs4742719	0.88[ASN][1000 genomes]
rs4742721	0.83[ASN][1000 genomes]
rs4742722	0.83[ASN][1000 genomes]
rs4743187	0.88[ASN][1000 genomes]
rs4743188	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4743192	0.86[ASN][1000 genomes]
rs4743194	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56262782	0.84[ASN][1000 genomes]
rs62574277	0.86[ASN][1000 genomes]
rs62574288	0.83[ASN][1000 genomes]
rs62574300	0.83[ASN][1000 genomes]
rs6478630	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6478631	0.86[ASN][1000 genomes]
rs67569753	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7025781	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7042576	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7045158	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7853442	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7853847	0.82[ASN][1000 genomes]
rs7859655	0.83[ASN][1000 genomes]
rs7868451	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7873849	0.86[ASN][1000 genomes]
rs7874856	0.83[ASN][1000 genomes]
rs879368	0.88[ASN][1000 genomes]
rs879369	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9802650	0.83[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	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7032046	TBC1D2	cis	Thyroid	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101019200-101024800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:101019400-101022800	Weak transcription	Liver	Liver
3	chr9:101019400-101023000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:101019400-101024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:101019400-101024400	Weak transcription	HSMM	muscle
6	chr9:101019600-101024000	Weak transcription	HSMMtube	muscle
7	chr9:101019600-101024400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:101019600-101026200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:101019600-101027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:101019800-101022400	Weak transcription	HepG2	liver
11	chr9:101019800-101022400	Weak transcription	K562	blood
12	chr9:101020200-101024400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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