Variant report

Variant	rs12293902
Chromosome Location	chr11:36300211-36300212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:36300166-36300255	GM12891	blood:	n/a	n/a
2	CTCF	chr11:36300140-36300290	RPTEC	kidney:	n/a	n/a
3	CTCF	chr11:36300160-36300310	HEK293	kidney:	n/a	n/a
4	CTCF	chr11:36300121-36300294	MCF-7	breast:	n/a	n/a
5	CTCF	chr11:36300120-36300270	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr11:36300100-36300250	A549	lung:	n/a	n/a
7	RAD21	chr11:36300124-36300364	H1-hESC	embryonic stem cell:	n/a	chr11:36300212-36300222
8	CTCF	chr11:36300100-36300250	HepG2	liver:	n/a	n/a
9	CTCF	chr11:36300140-36300290	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr11:36300131-36300299	MCF-7	breast:	n/a	n/a
11	CTCF	chr11:36300140-36300290	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr11:36300180-36300330	BJ	skin:	n/a	n/a
13	ZNF143	chr11:36300195-36300230	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:36300140-36300290	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr11:36300100-36300250	AG09319	gingival:	n/a	n/a
16	CTCF	chr11:36300200-36300350	HRE	kidney:	n/a	n/a
17	CTCF	chr11:36300140-36300290	HCT-116	colon:	n/a	n/a
18	CTCF	chr11:36300160-36300310	SAEC	small airway:	n/a	n/a
19	CTCF	chr11:36300151-36300251	A549	lung:	n/a	n/a
20	CTCF	chr11:36300145-36300278	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr11:36300120-36300270	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr11:36300100-36300250	AG04449	skin:	n/a	n/a
23	CTCF	chr11:36300120-36300270	HRE	kidney:	n/a	n/a
24	CTCF	chr11:36300120-36300270	NHEK	skin:	n/a	n/a
25	CTCF	chr11:36300160-36300310	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr11:36300036-36300341	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr11:36300120-36300270	RPTEC	kidney:	n/a	n/a
28	CTCF	chr11:36300120-36300270	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr11:36300145-36300284	MCF-7	breast:	n/a	n/a
30	CTCF	chr11:36300080-36300230	AG09319	gingival:	n/a	n/a
31	CTCF	chr11:36300120-36300270	Caco-2	colon:	n/a	n/a
32	CTCF	chr11:36300102-36300329	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:36300127-36300239	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr11:36300160-36300310	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr11:36300120-36300270	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr11:36300175-36300239	Gliobla	brain:	n/a	n/a
37	CTCF	chr11:36300120-36300270	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr11:36300142-36300274	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:36300140-36300290	AG04449	skin:	n/a	n/a
40	CTCF	chr11:36300180-36300330	AG09309	skin:	n/a	n/a
41	CTCF	chr11:36300100-36300250	HCM	heart:	n/a	n/a
42	CTCF	chr11:36300160-36300310	GM12871	blood:	n/a	n/a
43	RAD21	chr11:36300050-36300407	H1-hESC	embryonic stem cell:	n/a	chr11:36300212-36300222
44	CTCF	chr11:36300080-36300230	Caco-2	colon:	n/a	n/a
45	CTCF	chr11:36300138-36300296	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:36300120-36300270	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr11:36300180-36300330	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr11:36300160-36300310	HAc	cerebellar:	n/a	n/a
49	CTCF	chr11:36300080-36300230	HVMF	connective:	n/a	n/a
50	CTCF	chr11:36300188-36300242	IMR90	lung:	n/a	n/a

No data

Variant related genes	Relation type
COMMD9	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10836525	1.00[EUR][1000 genomes]
rs11033520	1.00[EUR][1000 genomes]
rs12272725	1.00[EUR][1000 genomes]
rs12274512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282145	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283981	0.90[EUR][1000 genomes]
rs12285631	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285953	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12286007	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286010	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12286643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289984	1.00[EUR][1000 genomes]
rs2289985	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36282200-36302000	Weak transcription	NHEK	skin
2	chr11:36287600-36304800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:36288000-36310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:36288400-36304600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:36290800-36310400	Weak transcription	Stomach Mucosa	stomach
6	chr11:36291000-36301200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:36291000-36301800	Weak transcription	Right Atrium	heart
8	chr11:36291200-36302200	Strong transcription	Stomach Smooth Muscle	stomach
9	chr11:36291200-36302400	Strong transcription	Primary T cells from cord blood	blood
10	chr11:36291200-36302800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:36291400-36303000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:36291800-36301200	Strong transcription	Fetal Intestine Large	intestine
13	chr11:36291800-36302200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:36292000-36302000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:36292000-36302400	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr11:36292000-36303200	Strong transcription	Primary B cells from cord blood	blood
17	chr11:36292000-36309600	Weak transcription	Psoas Muscle	Psoas
18	chr11:36292200-36301200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:36292200-36302200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:36292200-36302200	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:36292200-36302400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:36292200-36309600	Weak transcription	A549	lung
23	chr11:36292400-36302000	Strong transcription	Liver	Liver
24	chr11:36292400-36302200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:36292400-36302400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:36292600-36301600	Strong transcription	Placenta	Placenta
27	chr11:36292600-36302000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:36292800-36301000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:36293000-36301000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:36293000-36302200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:36293600-36301200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr11:36293800-36301200	Strong transcription	Colon Smooth Muscle	Colon
33	chr11:36293800-36301400	Weak transcription	K562	blood
34	chr11:36294200-36300600	Weak transcription	HUVEC	blood vessel
35	chr11:36295000-36301800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:36295000-36302200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:36295000-36302400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:36295000-36310000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:36295400-36301000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:36295800-36300800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:36295800-36302400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:36295800-36306200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:36296200-36301600	Weak transcription	HMEC	breast
44	chr11:36296200-36302600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:36296400-36302800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:36296400-36305400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:36296400-36309800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:36296600-36309600	Weak transcription	Fetal Lung	lung
49	chr11:36296600-36309600	Weak transcription	NHLF	lung
50	chr11:36296800-36304200	Weak transcription	GM12878-XiMat	blood

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