Variant report

Variant	rs10984193
Chromosome Location	chr9:100652436-100652437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100649531..100652518-chr9:100653450..100655843,2	MCF-7	breast:
2	chr9:100651715..100653516-chr9:100817722..100819986,2	K562	blood:
3	chr9:100472419..100473515-chr9:100652192..100652909,5	K562	blood:
4	chr9:100472975..100473600-chr9:100651604..100652809,3	MCF-7	breast:
5	chr9:100651977..100652889-chr9:100663107..100663913,3	MCF-7	breast:
6	chr9:100648546..100652838-chr9:100654754..100658082,3	K562	blood:
7	chr9:100652340..100652880-chr9:100663048..100663789,2	K562	blood:
8	chr9:100464367..100467056-chr9:100650913..100653289,2	K562	blood:
9	chr9:100652278..100654064-chr9:100658870..100661083,2	MCF-7	breast:
10	chr9:100639207..100640135-chr9:100652414..100652928,2	MCF-7	breast:
11	chr9:100645728..100648046-chr9:100651565..100653285,2	K562	blood:
12	chr9:100511988..100512975-chr9:100652311..100652871,4	MCF-7	breast:
13	chr9:100633555..100634377-chr9:100652125..100652748,2	MCF-7	breast:
14	chr9:100637402..100640995-chr9:100649849..100652626,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000095380	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10984297	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10984349	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs10984462	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1127703	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12235434	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12236440	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12237296	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12238579	0.82[YRI][hapmap]
rs17346310	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780416	0.87[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3780417	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3780418	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3780419	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4560904	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4618817	0.88[CEU][hapmap]
rs62574034	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62574035	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6586	0.90[YRI][hapmap]
rs67500034	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67975003	0.83[EUR][1000 genomes]
rs68112593	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7025609	0.88[CEU][hapmap]
rs7040232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72753548	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72753572	0.83[EUR][1000 genomes]
rs7855917	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7864655	0.83[EUR][1000 genomes]
rs7870125	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10984193	Hs.43687	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100637600-100658000	Weak transcription	Gastric	stomach
2	chr9:100637800-100652800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:100651800-100652800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:100651800-100653000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:100651800-100653000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr9:100652000-100653000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr9:100652200-100652600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:100652200-100652600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr9:100652200-100652800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:100652200-100652800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:100652200-100652800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:100652200-100652800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr9:100652200-100652800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr9:100652200-100652800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:100652200-100652800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr9:100652200-100653000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:100652200-100653000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr9:100652200-100653000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr9:100652200-100653000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr9:100652400-100652600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:100652400-100652800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
22	chr9:100652400-100653000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr9:100652400-100654400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:100652400-100657400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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