Variant report

Variant	rs7644973
Chromosome Location	chr3:53082937-53082938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr3:53082755-53083186	K562	blood:	n/a	n/a
2	HDAC2	chr3:53082880-53083113	K562	blood:	n/a	n/a
3	TEAD4	chr3:53082739-53083212	K562	blood:	n/a	n/a
4	PML	chr3:53082856-53083105	K562	blood:	n/a	n/a
5	EP300	chr3:53082838-53083155	K562	blood:	n/a	n/a
6	RCOR1	chr3:53082805-53083148	K562	blood:	n/a	n/a
7	GABPA	chr3:53082809-53083087	K562	blood:	n/a	n/a
8	CEBPD	chr3:53082863-53083128	K562	blood:	n/a	n/a
9	TBP	chr3:53082844-53083189	K562	blood:	n/a	n/a
10	TAL1	chr3:53082782-53083213	K562	blood:	n/a	n/a
11	STAT5A	chr3:53082813-53083157	K562	blood:	n/a	n/a
12	NR2F2	chr3:53082732-53083188	K562	blood:	n/a	n/a
13	POLR2A	chr3:53082841-53083124	K562	blood:	n/a	n/a
14	GATA2	chr3:53082764-53083184	K562	blood:	n/a	n/a
15	GATA1	chr3:53082784-53083210	K562	blood:	n/a	n/a
16	CEBPD	chr3:53082869-53083135	K562	blood:	n/a	n/a
17	GATA2	chr3:53082803-53083055	K562	blood:	n/a	n/a
18	TEAD4	chr3:53082705-53083177	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52888069..52891024-chr3:53081330..53083131,2	K562	blood:
2	chr3:52973930..52976171-chr3:53081053..53083269,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266635	TF binding region
SFMBT1	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11130332	0.89[EUR][1000 genomes]
rs11707576	0.90[EUR][1000 genomes]
rs11708223	0.88[EUR][1000 genomes]
rs13082061	0.87[EUR][1000 genomes]
rs17304995	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2246556	0.81[EUR][1000 genomes]
rs2255107	0.81[AMR][1000 genomes]
rs2336162	0.80[EUR][1000 genomes]
rs2336669	0.88[EUR][1000 genomes]
rs2336671	0.87[EUR][1000 genomes]
rs2564947	0.91[EUR][1000 genomes]
rs2581779	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2581780	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2581796	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2581797	0.89[EUR][1000 genomes]
rs2581801	0.89[EUR][1000 genomes]
rs2581802	0.89[EUR][1000 genomes]
rs2581805	0.88[EUR][1000 genomes]
rs2581810	0.85[EUR][1000 genomes]
rs2581815	0.89[EUR][1000 genomes]
rs2581820	0.91[EUR][1000 genomes]
rs2581823	0.90[EUR][1000 genomes]
rs2710345	0.89[EUR][1000 genomes]
rs34230854	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35380116	0.86[EUR][1000 genomes]
rs4519686	0.90[EUR][1000 genomes]
rs4687692	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4687699	0.89[EUR][1000 genomes]
rs59989280	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6445550	0.89[EUR][1000 genomes]
rs6768844	0.90[EUR][1000 genomes]
rs6770957	0.91[EUR][1000 genomes]
rs6771610	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6789219	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6792578	0.90[EUR][1000 genomes]
rs6805298	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71301803	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71301807	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621939	0.90[EUR][1000 genomes]
rs7637082	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7648514	0.87[EUR][1000 genomes]
rs7652131	0.91[EUR][1000 genomes]
rs9311485	0.88[EUR][1000 genomes]
rs9812543	0.91[EUR][1000 genomes]
rs9813024	0.86[EUR][1000 genomes]
rs9831409	0.89[EUR][1000 genomes]
rs9842974	0.90[EUR][1000 genomes]
rs9846976	0.90[EUR][1000 genomes]
rs9847024	0.84[EUR][1000 genomes]
rs9865094	0.88[EUR][1000 genomes]
rs9870898	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876800	chr3:53038786-53113762	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1820544	chr3:53046712-53096394	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv822094	chr3:53059674-53096460	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv590347	chr3:53079048-53088815	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7644973	ITIH4	Cis_1M	lymphoblastoid	RTeQTL
rs7644973	SERBP1P3	cis	lung	GTEx
rs7644973	ITIH4-AS1	cis	Artery Tibial	GTEx
rs7644973	ITIH4-AS1	cis	lung	GTEx
rs7644973	ITIH4-AS1	cis	Artery Aorta	GTEx
rs7644973	MUSTN1	cis	Artery Aorta	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53080600-53084000	Weak transcription	HepG2	liver
2	chr3:53080800-53084400	Weak transcription	HSMMtube	muscle
3	chr3:53081000-53085400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:53081200-53085200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:53081200-53085200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:53081200-53085400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:53081200-53085400	Weak transcription	Pancreas	Pancrea
8	chr3:53081800-53086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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