Variant report

Variant	rs9641593
Chromosome Location	chr7:117822382-117822383
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:117820845-117829160	K562	blood:	n/a	n/a
2	POLR2A	chr7:117822373-117822832	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:117822340-117822884	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:117822010-117826055	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:117822283-117822853	K562	blood:	n/a	n/a
6	POLR2A	chr7:117822224-117822873	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:117822305-117822568	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:117388690..117390929-chr7:117821238..117823244,2	MCF-7	breast:
2	chr5:149864249..149866469-chr7:117821128..117824020,2	MCF-7	breast:
3	chr7:117821578..117823325-chr7:117847731..117849389,2	K562	blood:
4	chr7:117819950..117822921-chr7:117839591..117842038,2	MCF-7	breast:
5	chr7:117822159..117825807-chr7:117854196..117858736,4	K562	blood:
6	chr7:117821797..117823895-chr7:117873522..117875796,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTTNBP2-3	chr7:117821706-117824013	NONHSAT122959

No data

Variant related genes	Relation type
NAA38	TF binding region
ENSG00000106013	Chromatin interaction
ENSG00000254333	Chromatin interaction
ENSG00000070614	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1015782	0.85[EUR][1000 genomes]
rs10247768	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487392	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11487110	0.85[EUR][1000 genomes]
rs11542074	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974039	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11983651	0.91[EUR][1000 genomes]
rs12154684	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12670769	0.82[EUR][1000 genomes]
rs1544583	0.94[EUR][1000 genomes]
rs1544584	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17140984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141053	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2041527	0.80[EUR][1000 genomes]
rs2058418	0.84[EUR][1000 genomes]
rs2215628	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286863	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28260	0.82[EUR][1000 genomes]
rs33924981	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34010516	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34019303	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35218902	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35485182	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41903	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41904	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41912	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41921	0.85[EUR][1000 genomes]
rs41923	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41924	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41925	0.82[EUR][1000 genomes]
rs41930	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41931	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41936	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41962	0.82[EUR][1000 genomes]
rs41989	0.82[EUR][1000 genomes]
rs45604739	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730837	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5002232	0.84[EUR][1000 genomes]
rs57308869	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61328879	0.82[EUR][1000 genomes]
rs62466471	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62466515	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62468297	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62469806	0.90[EUR][1000 genomes]
rs6466643	0.81[EUR][1000 genomes]
rs6466648	0.85[EUR][1000 genomes]
rs6942513	0.82[EUR][1000 genomes]
rs769435	0.82[EUR][1000 genomes]
rs7786233	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801976	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9656259	0.85[EUR][1000 genomes]
rs992035	0.82[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	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv889088	chr7:117744660-117913648	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9641593	LSM8	cis	multi-tissue	Pritchard

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117816000-117822600	Weak transcription	NHEK	skin
2	chr7:117816200-117822800	Weak transcription	Fetal Heart	heart
3	chr7:117816400-117822800	Weak transcription	Primary B cells from cord blood	blood
4	chr7:117818400-117822400	Weak transcription	Pancreas	Pancrea
5	chr7:117818800-117822400	Weak transcription	Liver	Liver
6	chr7:117818800-117822800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:117819200-117822800	Weak transcription	K562	blood
8	chr7:117820000-117822400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:117820600-117822800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:117820800-117823400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:117821600-117822600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:117822000-117822600	Enhancers	Fetal Kidney	kidney
13	chr7:117822200-117822800	Enhancers	Dnd41	blood

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