Variant report

Variant	rs7827209
Chromosome Location	chr8:61197989-61197990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:61197519-61198046	K562	blood:	n/a	n/a
2	CEBPD	chr8:61197587-61198114	K562	blood:	n/a	n/a
3	JUND	chr8:61197216-61198018	K562	blood:	n/a	chr8:61197594-61197603
4	USF1	chr8:61197454-61198094	K562	blood:	n/a	n/a
5	MYC	chr8:61197461-61198070	K562	blood:	n/a	chr8:61197637-61197647
6	JUN	chr8:61197191-61198123	K562	blood:	n/a	chr8:61197594-61197603 chr8:61197593-61197606
7	ZNF384	chr8:61197472-61198345	K562	blood:	n/a	n/a
8	GATA1	chr8:61197498-61198096	PBDE	blood:	n/a	chr8:61197866-61197873 chr8:61197866-61197873 chr8:61197866-61197873
9	TEAD4	chr8:61197403-61198076	K562	blood:	n/a	n/a
10	MAX	chr8:61197495-61198166	K562	blood:	n/a	chr8:61197637-61197647
11	USF1	chr8:61197493-61198005	K562	blood:	n/a	n/a
12	TEAD4	chr8:61197456-61198077	K562	blood:	n/a	n/a
13	MYC	chr8:61197509-61198052	K562	blood:	n/a	chr8:61197637-61197647
14	NR2F2	chr8:61197442-61198025	K562	blood:	n/a	n/a
15	TAL1	chr8:61197375-61198085	K562	blood:	n/a	chr8:61197865-61197873
16	POLR2A	chr8:61197471-61198008	K562	blood:	n/a	n/a
17	BHLHE40	chr8:61197483-61198088	K562	blood:	n/a	n/a
18	NR2F2	chr8:61197296-61198071	K562	blood:	n/a	n/a
19	ARID3A	chr8:61197479-61198031	K562	blood:	n/a	n/a
20	MAFF	chr8:61197537-61198002	K562	blood:	n/a	n/a
21	TBL1XR1	chr8:61197593-61197995	K562	blood:	n/a	n/a
22	RCOR1	chr8:61197486-61198146	K562	blood:	n/a	n/a
23	CBX3	chr8:61197413-61198091	K562	blood:	n/a	n/a
24	JUN	chr8:61197415-61197999	K562	blood:	n/a	chr8:61197594-61197603 chr8:61197593-61197606
25	ZNF274	chr8:61197530-61198120	K562	blood:	n/a	n/a
26	EP300	chr8:61197410-61198030	K562	blood:	n/a	chr8:61197808-61197822
27	TBL1XR1	chr8:61197372-61198083	K562	blood:	n/a	n/a
28	JUN	chr8:61197367-61198104	K562	blood:	n/a	chr8:61197594-61197603 chr8:61197593-61197606
29	GATA2	chr8:61197445-61198038	K562	blood:	n/a	chr8:61197866-61197873 chr8:61197866-61197873 chr8:61197866-61197873

No.	Distal block	Cell Line	Cell type
1	chr8:61197631..61199694-chr8:61208283..61210398,2	K562	blood:
2	chr8:61192442..61196221-chr8:61196731..61199098,4	MCF-7	breast:
3	chr8:61116674..61118550-chr8:61196001..61198215,2	MCF-7	breast:
4	chr8:61192521..61195456-chr8:61197936..61200011,2	MCF-7	breast:
5	chr8:61197740..61199374-chr8:61204878..61207311,3	K562	blood:

Variant related genes	Relation type
CA8	TF binding region
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10504308	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11996007	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11997891	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12155603	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676801	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12679218	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925975	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16926000	0.82[ASN][1000 genomes]
rs1842391	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737555	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738802	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55948763	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56275436	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57360505	0.83[ASN][1000 genomes]
rs59616608	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59700121	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60042864	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60690040	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61057972	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648503	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72665113	0.93[ASN][1000 genomes]
rs72665118	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665119	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665124	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665137	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7462854	0.92[ASN][1000 genomes]
rs7463394	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820639	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7839481	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9693218	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61194000-61198600	Weak transcription	Gastric	stomach
2	chr8:61194800-61198600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:61195200-61198600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:61197800-61198200	Flanking Active TSS	K562	blood
5	chr8:61197800-61198400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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