Variant report

Variant	rs71456318
Chromosome Location	chr11:64332862-64332863
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64332717-64333049	K562	blood:	n/a	n/a
2	CTCF	chr11:64332785-64333193	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr11:64332850-64333103	HepG2	liver:	n/a	n/a
4	RAD21	chr11:64332779-64333181	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:64332833-64333052	A549	lung:	n/a	n/a
6	TCF12	chr11:64332780-64333087	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:64332862-64333056	NHEK	skin:	n/a	n/a
8	CTCF	chr11:64332857-64333131	K562	blood:	n/a	n/a
9	TCF12	chr11:64332842-64333116	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:64332820-64332970	A549	lung:	n/a	n/a
11	JUND	chr11:64332821-64333116	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr11:64332801-64333165	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr11:64332773-64333172	HepG2	liver:	n/a	n/a
14	SIN3A	chr11:64332804-64333106	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:64332759-64333216	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:64332860-64333079	Hela-S3	cervix:	n/a	n/a
17	RAD21	chr11:64332746-64333117	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:64332862-64333155	GM12891	blood:	n/a	n/a
19	CTCF	chr11:64332732-64333188	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr11:64332860-64333010	NHEK	skin:	n/a	n/a
21	CTCF	chr11:64332850-64333094	MCF-7	breast:	n/a	n/a
22	ZNF143	chr11:64332824-64333135	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:64332834-64333072	A549	lung:	n/a	n/a
24	CTCF	chr11:64332860-64333010	Caco-2	colon:	n/a	n/a
25	CTCFL	chr11:64332818-64332979	K562	blood:	n/a	n/a
26	CTCFL	chr11:64332810-64333050	K562	blood:	n/a	n/a
27	GABPA	chr11:64332695-64333153	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUN	chr11:64332816-64332919	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr11:64332840-64332990	MCF-7	breast:	n/a	n/a
30	RAD21	chr11:64332642-64333157	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr11:64332824-64333131	K562	blood:	n/a	n/a
32	CTCF	chr11:64332860-64333010	GM12866	blood:	n/a	n/a
33	CTCF	chr11:64332816-64333083	HepG2	liver:	n/a	n/a
34	CTCF	chr11:64332855-64333123	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:64332860-64333010	HFF	foreskin:	n/a	n/a
36	CTCF	chr11:64332800-64332950	HCT-116	colon:	n/a	n/a
37	CTCF	chr11:64332822-64333127	HepG2	liver:	n/a	n/a
38	USF2	chr11:64332839-64332968	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr11:64332630-64333182	K562	blood:	n/a	n/a
40	CTCF	chr11:64332840-64332990	GM12865	blood:	n/a	n/a
41	CTCF	chr11:64332834-64333120	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64326089..64328505-chr11:64330368..64332931,2	K562	blood:
2	chr11:64332541..64334832-chr11:64338629..64340699,2	MCF-7	breast:
3	chr11:64319994..64322446-chr11:64331436..64333325,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC22A11	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11231814	1.00[ASN][1000 genomes]
rs11231816	1.00[ASN][1000 genomes]
rs11231822	0.97[EUR][1000 genomes]
rs12363578	0.92[ASN][1000 genomes]
rs12808503	0.87[EUR][1000 genomes]
rs17300741	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17300895	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17372915	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2078267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2164495	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2277312	0.86[EUR][1000 genomes]
rs34484509	1.00[ASN][1000 genomes]
rs34812986	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759053	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3782099	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4930194	0.92[ASN][1000 genomes]
rs4930420	1.00[ASN][1000 genomes]
rs4930423	1.00[ASN][1000 genomes]
rs4930426	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57827982	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7102027	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7124676	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929308	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7936185	1.00[ASN][1000 genomes]
rs7940321	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7943154	0.84[AMR][1000 genomes];0.91[EUR][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	nsv1035485	chr11:64228847-64354869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64322800-64334000	Weak transcription	Right Atrium	heart
2	chr11:64323000-64333400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:64326200-64333200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:64328000-64333000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:64328000-64333400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:64328000-64333600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:64328000-64333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:64328200-64333000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:64328200-64333400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:64330800-64334000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:64331400-64336000	Enhancers	Placenta	Placenta
12	chr11:64331600-64333000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:64332400-64333000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:64332400-64333400	Enhancers	HepG2	liver
15	chr11:64332600-64333000	Enhancers	Spleen	Spleen
16	chr11:64332600-64333200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:64332600-64333800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:64332600-64333800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr11:64332600-64333800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:64332600-64333800	Enhancers	Pancreas	Pancrea
21	chr11:64332600-64334000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:64332600-64334000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:64332600-64335800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:64332800-64335800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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