Variant report

Variant	rs7121713
Chromosome Location	chr11:92959249-92959250
allele	A/G
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	CTCF	chr11:92959160-92959310	HCFaa	heart:	n/a	n/a
2	CTCF	chr11:92958630-92959356	A549	lung:	n/a	chr11:92958984-92959005 chr11:92958996-92959003 chr11:92958989-92959007
3	RAD21	chr11:92958745-92959263	Hela-S3	cervix:	n/a	chr11:92958987-92959006 chr11:92958996-92959005
4	CTCF	chr11:92958484-92959497	SK-N-SH	brain:	n/a	chr11:92958984-92959005 chr11:92958996-92959003 chr11:92958989-92959007
5	CTCF	chr11:92959200-92959350	HMEC	breast:	n/a	n/a
6	CTCF	chr11:92958741-92959305	HCT-116	colon:	n/a	chr11:92958984-92959005 chr11:92958996-92959003 chr11:92958989-92959007
7	RAD21	chr11:92958684-92959251	SK-N-SH_RA	brain:	n/a	chr11:92958987-92959006 chr11:92958996-92959005
8	CTCF	chr11:92959240-92959390	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr11:92959160-92959310	AG04449	skin:	n/a	n/a
10	RAD21	chr11:92958570-92959460	SK-N-SH	brain:	n/a	chr11:92958987-92959006 chr11:92958996-92959005
11	SMC3	chr11:92958415-92959479	SK-N-SH	brain:	n/a	chr11:92958991-92959005
12	RAD21	chr11:92958820-92959259	A549	lung:	n/a	chr11:92958987-92959006 chr11:92958996-92959005
13	CTCF	chr11:92959180-92959330	AoAF	blood vessel:	n/a	n/a
14	RAD21	chr11:92958773-92959280	HCT-116	colon:	n/a	chr11:92958987-92959006 chr11:92958996-92959005
15	CTCF	chr11:92959160-92959310	HMF	breast:	n/a	n/a
16	RAD21	chr11:92958772-92959300	A549	lung:	n/a	chr11:92958987-92959006 chr11:92958996-92959005
17	CTCF	chr11:92959100-92959250	HBMEC	blood vessel:	n/a	n/a
18	RAD21	chr11:92958651-92959280	HCT-116	colon:	n/a	chr11:92958987-92959006 chr11:92958996-92959005

No.	Distal block	Cell Line	Cell type
1	chr11:92674953..92675677-chr11:92958460..92959354,2	MCF-7	breast:
2	chr11:92862981..92865243-chr11:92958375..92960659,2	MCF-7	breast:
3	chr11:92674857..92675942-chr11:92958477..92959471,4	K562	blood:

Variant related genes	Relation type
ENSG00000233737	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10830986	0.81[ASN][1000 genomes]
rs10830987	0.83[ASN][1000 genomes]
rs10830992	0.81[ASN][1000 genomes]
rs10830993	0.81[ASN][1000 genomes]
rs10830995	0.91[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10830997	0.86[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10830999	0.81[ASN][1000 genomes]
rs10831000	0.83[ASN][1000 genomes]
rs10831001	0.91[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs10831002	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10831007	0.82[ASN][1000 genomes]
rs11020180	0.83[ASN][1000 genomes]
rs11020183	0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11020189	0.84[ASN][1000 genomes]
rs11020190	0.91[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11020191	0.83[ASN][1000 genomes]
rs11020192	0.81[ASN][1000 genomes]
rs11020196	0.94[ASN][1000 genomes]
rs11020197	0.94[ASN][1000 genomes]
rs11020198	0.82[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11020199	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020200	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020204	0.88[ASN][1000 genomes]
rs11020206	0.94[ASN][1000 genomes]
rs11020207	0.96[ASN][1000 genomes]
rs11020208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12221889	0.83[ASN][1000 genomes]
rs12365990	0.91[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1446915	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1446916	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16918625	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16918677	0.99[ASN][1000 genomes]
rs2121467	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2166583	0.88[ASN][1000 genomes]
rs2399605	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3758676	0.81[ASN][1000 genomes]
rs3943572	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs3957618	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs4753437	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs4753438	0.94[ASN][1000 genomes]
rs4753439	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58121936	0.99[ASN][1000 genomes]
rs66763553	0.92[ASN][1000 genomes]
rs67573258	0.83[ASN][1000 genomes]
rs7111174	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7121033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs753517	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs7933585	0.94[ASN][1000 genomes]
rs7933922	0.97[ASN][1000 genomes]
rs7936669	0.93[ASN][1000 genomes]
rs7936931	0.97[ASN][1000 genomes]
rs935447	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs935448	0.90[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898176	chr11:92877533-92965312	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92955200-92962200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:92959000-92959400	Enhancers	Fetal Lung	lung

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