Variant report

Variant	rs9655816
Chromosome Location	chr7:112431254-112431255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:112429633-112432379	HepG2	liver:	n/a	n/a
2	YY1	chr7:112431232-112431567	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:112428900-112431748	GM12891	blood:	n/a	n/a
4	SPI1	chr7:112430540-112431271	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:112429066-112431803	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr7:112428848-112431866	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
2	chr7:112421571..112428519-chr7:112428661..112431818,11	MCF-7	breast:
3	chr7:112421681..112427261-chr7:112427948..112432124,6	MCF-7	breast:
4	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:

No data

Variant related genes	Relation type
TMEM168	TF binding region
ENSG00000006652	Chromatin interaction
ENSG00000146802	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10216223	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10226382	0.97[ASN][1000 genomes]
rs10238492	0.87[ASN][1000 genomes]
rs10247759	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10249701	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10250630	0.81[ASN][1000 genomes]
rs10253054	0.85[ASN][1000 genomes]
rs10256800	0.97[ASN][1000 genomes]
rs10257210	0.97[ASN][1000 genomes]
rs10265582	0.82[ASN][1000 genomes]
rs10271752	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10280638	0.86[EUR][1000 genomes]
rs11538991	0.87[ASN][1000 genomes]
rs11760733	0.87[ASN][1000 genomes]
rs11762442	0.81[ASN][1000 genomes]
rs1227158	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1227168	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1227171	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1227172	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1227174	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1227176	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1227177	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1227178	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1227181	0.82[EUR][1000 genomes]
rs1227183	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1227190	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1238698	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1614000	0.82[ASN][1000 genomes]
rs1615468	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1718955	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1718957	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1718969	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1796491	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1796492	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1796493	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1796516	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1922907	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2028028	0.80[EUR][1000 genomes]
rs2457	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28681358	0.97[ASN][1000 genomes]
rs4490768	0.82[ASN][1000 genomes]
rs6466421	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6945635	0.85[EUR][1000 genomes]
rs6946335	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6950318	0.82[ASN][1000 genomes]
rs6955834	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6970266	0.85[EUR][1000 genomes]
rs726593	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7777973	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7778135	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7780098	0.91[ASN][1000 genomes]
rs7789772	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7803405	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7806781	0.97[ASN][1000 genomes]
rs9649356	0.81[AMR][1000 genomes];0.83[EUR][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv967494	chr7:112430613-112445931	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112429400-112431400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:112430400-112433000	Active TSS	HepG2	liver
3	chr7:112430800-112431400	Weak transcription	Esophagus	oesophagus
4	chr7:112430800-112440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:112431000-112431400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:112431000-112431400	Enhancers	NHEK	skin
7	chr7:112431000-112431600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:112431000-112431600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:112431000-112431600	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr7:112431000-112431600	Weak transcription	Pancreas	Pancrea
11	chr7:112431000-112431600	Enhancers	GM12878-XiMat	blood
12	chr7:112431000-112431800	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:112431000-112432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:112431000-112432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:112431000-112432000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:112431000-112432400	Weak transcription	K562	blood
17	chr7:112431200-112432200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:112431200-112433600	Weak transcription	Primary B cells from cord blood	blood

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