Variant report

Variant	rs12286839
Chromosome Location	chr11:64868346-64868347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:64868260-64868410	HCM	heart:	n/a	n/a
2	CTCF	chr11:64868300-64868450	RPTEC	kidney:	n/a	n/a
3	CTCF	chr11:64868280-64868430	HEEpiC	esophagus:	n/a	n/a
4	CTCF	chr11:64868320-64868470	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr11:64868240-64868390	GM12864	blood:	n/a	n/a
6	CTCF	chr11:64868240-64868390	GM12874	blood:	n/a	n/a
7	CTCF	chr11:64868275-64868415	K562	blood:	n/a	n/a
8	CTCF	chr11:64868300-64868450	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr11:64868300-64868450	GM12865	blood:	n/a	n/a
10	ARID3A	chr11:64868295-64868506	HepG2	liver:	n/a	n/a
11	CTCF	chr11:64868340-64868490	AG04450	lung:	n/a	n/a
12	CTCF	chr11:64868260-64868410	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr11:64868220-64868370	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:64868260-64868410	GM06990	blood:	n/a	n/a
15	CTCF	chr11:64868200-64868350	GM06990	blood:	n/a	n/a
16	CTCF	chr11:64868298-64868391	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr11:64868340-64868490	A549	lung:	n/a	n/a
18	CTCF	chr11:64868280-64868430	GM12873	blood:	n/a	n/a
19	CTCF	chr11:64868260-64868410	BJ	skin:	n/a	n/a
20	CTCF	chr11:64868240-64868390	HMF	breast:	n/a	n/a
21	CTCF	chr11:64868220-64868370	GM12875	blood:	n/a	n/a
22	CTCF	chr11:64868103-64868553	K562	blood:	n/a	n/a
23	CTCF	chr11:64868340-64868490	K562	blood:	n/a	n/a
24	CTCF	chr11:64868200-64868350	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr11:64868240-64868390	HEEpiC	esophagus:	n/a	n/a
26	CTCF	chr11:64868314-64868388	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr11:64868340-64868490	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr11:64868248-64868384	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr11:64868260-64868410	A549	lung:	n/a	n/a
30	CTCF	chr11:64868220-64868370	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr11:64868200-64868350	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr11:64868300-64868450	HCFaa	heart:	n/a	n/a
33	CTCF	chr11:64868240-64868390	HEK293	kidney:	n/a	n/a
34	CTCF	chr11:64868300-64868450	HMF	breast:	n/a	n/a
35	CTCF	chr11:64868165-64868481	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:64868280-64868430	HRE	kidney:	n/a	n/a
37	CTCF	chr11:64868240-64868390	Caco-2	colon:	n/a	n/a
38	CTCF	chr11:64868300-64868450	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr11:64868308-64868363	HepG2	liver:	n/a	n/a
40	CTCF	chr11:64868220-64868370	HepG2	liver:	n/a	n/a
41	ARID3A	chr11:64868256-64868516	K562	blood:	n/a	n/a
42	CTCF	chr11:64868280-64868430	RPTEC	kidney:	n/a	n/a
43	CTCF	chr11:64868280-64868430	AG10803	skin:	n/a	n/a
44	CTCF	chr11:64868280-64868430	NB4	blood:	n/a	n/a
45	CTCF	chr11:64868280-64868430	HCPEpiC	choroid plexus:	n/a	n/a
46	CTCF	chr11:64868260-64868410	HMEC	breast:	n/a	n/a
47	CTCF	chr11:64868260-64868410	GM12873	blood:	n/a	n/a
48	CTCF	chr11:64868300-64868450	HL-60	blood:	n/a	n/a
49	CTCF	chr11:64868300-64868450	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr11:64868340-64868490	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:64860826..64865780-chr11:64866168..64869464,4	K562	blood:
2	chr11:64806669..64810557-chr11:64862016..64868359,8	K562	blood:
3	chr11:64866821..64868378-chr11:64884153..64886306,2	K562	blood:

No data

Variant related genes	Relation type
VPS51	TF binding region
ENSG00000149823	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11227112	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11539360	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11546366	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12099121	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12281324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12295393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276021	0.93[EUR][1000 genomes]
rs61736623	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
5	nsv897712	chr11:64856695-64882789	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64864200-64879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:64864400-64874600	Weak transcription	Aorta	Aorta
3	chr11:64864400-64878000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:64864600-64869000	Weak transcription	Left Ventricle	heart
5	chr11:64864600-64873000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:64864600-64874600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:64864600-64876400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:64864800-64868600	Weak transcription	Osteobl	bone
9	chr11:64864800-64869000	Weak transcription	Pancreas	Pancrea
10	chr11:64864800-64869200	Weak transcription	Right Atrium	heart
11	chr11:64864800-64869200	Weak transcription	Right Ventricle	heart
12	chr11:64864800-64869200	Weak transcription	NH-A	brain
13	chr11:64864800-64869600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:64864800-64869600	Weak transcription	HUVEC	blood vessel
15	chr11:64864800-64869800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:64864800-64870600	Weak transcription	HSMM	muscle
17	chr11:64864800-64875000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:64864800-64875000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:64864800-64875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:64864800-64876000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:64864800-64876200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:64864800-64876400	Weak transcription	A549	lung
23	chr11:64864800-64878200	Weak transcription	NHDF-Ad	bronchial
24	chr11:64864800-64878600	Weak transcription	Small Intestine	intestine
25	chr11:64864800-64879400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:64865000-64868400	Weak transcription	Brain Substantia Nigra	brain
27	chr11:64865000-64868600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:64865000-64868600	Weak transcription	Stomach Mucosa	stomach
29	chr11:64865000-64868800	Weak transcription	Brain Anterior Caudate	brain
30	chr11:64865000-64868800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:64865000-64869000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:64865000-64869200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:64865000-64869200	Weak transcription	Ovary	ovary
34	chr11:64865000-64869600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:64865000-64869600	Weak transcription	Esophagus	oesophagus
36	chr11:64865000-64869800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:64865000-64869800	Weak transcription	NHEK	skin
38	chr11:64865000-64870600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:64865000-64870600	Strong transcription	Fetal Stomach	stomach
40	chr11:64865000-64872800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:64865000-64873200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:64865000-64874400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:64865000-64874400	Weak transcription	Colonic Mucosa	Colon
44	chr11:64865000-64875200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:64865000-64875600	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:64865000-64876200	Weak transcription	Fetal Lung	lung
47	chr11:64865000-64878000	Strong transcription	Fetal Intestine Small	intestine
48	chr11:64865000-64879000	Weak transcription	Fetal Kidney	kidney
49	chr11:64865200-64868400	Weak transcription	Primary B cells from cord blood	blood
50	chr11:64865200-64868800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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