Variant report

Variant	rs12826711
Chromosome Location	chr12:12510074-12510075
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:605)
CpG islands
(count:244)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr12:12509700-12510292	GM12878	blood:	n/a	chr12:12510100-12510114
2	PAX5	chr12:12509877-12510222	GM12891	blood:	n/a	chr12:12510178-12510187
3	CHD2	chr12:12509793-12510122	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr12:12509563-12510280	K562	blood:	n/a	n/a
5	ZNF143	chr12:12509742-12510206	H1-hESC	embryonic stem cell:	n/a	n/a
6	HEY1	chr12:12509700-12510555	K562	blood:	n/a	chr12:12510210-12510225 chr12:12510312-12510327
7	POLR2A	chr12:12509622-12511096	NB4	blood:	n/a	n/a
8	REST	chr12:12509471-12510731	A549	lung:	n/a	chr12:12510491-12510504
9	MYC	chr12:12509700-12510386	MCF10A-Er-Src	breast:	n/a	chr12:12510147-12510156
10	POLR2A	chr12:12509692-12510868	GM19193	blood:	n/a	n/a
11	POLR2A	chr12:12509737-12510623	Gliobla	brain:	n/a	n/a
12	POLR2A	chr12:12509361-12511865	GM12891	blood:	n/a	n/a
13	REST	chr12:12509883-12510272	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr12:12509528-12511290	PBDE	blood:	n/a	n/a
15	CTCF	chr12:12510000-12510150	AG10803	skin:	n/a	n/a
16	E2F6	chr12:12509463-12510730	A549	lung:	n/a	chr12:12510323-12510332 chr12:12510163-12510172 chr12:12510205-12510217 chr12:12510324-12510334
17	ELF1	chr12:12509728-12510212	HepG2	liver:	n/a	n/a
18	RFX5	chr12:12509993-12510243	HepG2	liver:	n/a	n/a
19	CTCF	chr12:12510000-12510150	GM12872	blood:	n/a	n/a
20	CTCF	chr12:12509972-12510174	GM13976	blood:	n/a	n/a
21	POLR2A	chr12:12509693-12510778	GM12878	blood:	n/a	n/a
22	POLR2A	chr12:12509754-12510317	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3AK20	chr12:12509586-12510565	HCT-116	colon:	n/a	n/a
24	CTCF	chr12:12509997-12510190	H1-hESC	embryonic stem cell:	n/a	chr12:12510164-12510180
25	MAX	chr12:12509759-12510720	H1-hESC	embryonic stem cell:	n/a	chr12:12510147-12510156
26	CTCF	chr12:12510000-12510150	Caco-2	colon:	n/a	n/a
27	EP300	chr12:12509692-12510552	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:12509711-12510648	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr12:12509740-12510224	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr12:12509980-12510130	HRE	kidney:	n/a	n/a
31	GABPA	chr12:12509602-12510309	A549	lung:	n/a	n/a
32	TBP	chr12:12509661-12510346	GM12878	blood:	n/a	n/a
33	CTCF	chr12:12510000-12510150	HRE	kidney:	n/a	n/a
34	CTCF	chr12:12509985-12510161	LNCaP	prostate:	n/a	n/a
35	ELF1	chr12:12509759-12510252	K562	blood:	n/a	n/a
36	TAF1	chr12:12509707-12510302	PFSK-1	brain:	n/a	n/a
37	MXI1	chr12:12509291-12510977	IMR90	lung:	n/a	n/a
38	POLR2A	chr12:12509689-12510732	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr12:12509648-12510356	PANC-1	pancreas:	n/a	n/a
40	ELK1	chr12:12509745-12510215	K562	blood:	n/a	n/a
41	REST	chr12:12509668-12510252	A549	lung:	n/a	n/a
42	CTCF	chr12:12509960-12510110	Caco-2	colon:	n/a	n/a
43	POLR2A	chr12:12509782-12510553	A549	lung:	n/a	n/a
44	POU2F2	chr12:12509717-12510349	GM12878	blood:	n/a	n/a
45	POLR2A	chr12:12509442-12511869	GM18505	blood:	n/a	n/a
46	CTCF	chr12:12510060-12510210	AoAF	blood vessel:	n/a	chr12:12510164-12510180
47	HMGN3	chr12:12509799-12510382	K562	blood:	n/a	n/a
48	TAF7	chr12:12509723-12510351	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr12:12509736-12510741	GM12891	blood:	n/a	n/a
50	MYC	chr12:12509669-12510714	K562	blood:	n/a	chr12:12510147-12510156

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:12510064-12510114	HIPEpiC	eye:	n/a
2	chr12:12510070-12510120	IMR90	lung:	fetal
3	chr12:12510067-12510117	SK-N-SH	brain:	n/a
4	chr12:12510064-12510114	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:12510074-12510124	HRE	kidney:	n/a
6	chr12:12510074-12510124	HL-60	blood:	n/a
7	chr12:12510064-12510114	U87	brain:	n/a
8	chr12:12510067-12510117	AG04449	skin:	fetal
9	chr12:12510074-12510124	NHDF-neo	bronchial:	n/a
10	chr12:12510067-12510117	K562	blood:	n/a
11	chr12:12510064-12510114	HepG2	liver:	n/a
12	chr12:12510067-12510117	AoSMC	blood vessel:	n/a
13	chr12:12510074-12510124	HCPEpiC	choroid plexus:	n/a
14	chr12:12510070-12510120	HCPEpiC	choroid plexus:	n/a
15	chr12:12510064-12510114	AG04449	skin:	fetal
16	chr12:12510064-12510114	AG10803	skin:	n/a
17	chr12:12510067-12510117	SK-N-SH_RA	brain:	n/a
18	chr12:12510070-12510120	HNPCEpiC	eye:	n/a
19	chr12:12510074-12510124	HMEC	breast:	n/a
20	chr12:12510074-12510124	BJ	skin:	n/a
21	chr12:12510074-12510124	NB4	blood:	n/a
22	chr12:12510067-12510117	HEK293	kidney:	embryo
23	chr12:12510064-12510114	GM12878	blood:	n/a
24	chr12:12510074-12510124	T-47D	breast:	n/a
25	chr12:12510067-12510117	GM06990	blood:	n/a
26	chr12:12510074-12510124	Jurkat	blood:	n/a
27	chr12:12510067-12510117	HL-60	blood:	n/a
28	chr12:12510064-12510114	SK-N-SH_RA	brain:	n/a
29	chr12:12510074-12510124	AG10803	skin:	n/a
30	chr12:12510064-12510114	A549	lung:	n/a
31	chr12:12510070-12510120	NHDF-neo	bronchial:	n/a
32	chr12:12510070-12510120	HAEpiC	amniotic membrane:	n/a
33	chr12:12510074-12510124	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:12510070-12510120	PFSK-1	brain:	n/a
35	chr12:12510064-12510114	SAEC	small airway:	n/a
36	chr12:12510064-12510114	Caco-2	colon:	n/a
37	chr12:12510064-12510114	CMK	blood:	n/a
38	chr12:12510067-12510117	HMEC	breast:	n/a
39	chr12:12510067-12510117	SK-N-MC	brain:	n/a
40	chr12:12510070-12510120	GM12892	blood:	n/a
41	chr12:12510064-12510114	ECC-1	luminal epithelium:	n/a
42	chr12:12510064-12510114	HAEpiC	amniotic membrane:	n/a
43	chr12:12510064-12510114	MCF-7	breast:	n/a
44	chr12:12510074-12510124	PANC-1	pancreas:	n/a
45	chr12:12510070-12510120	SKMC	muscle:	n/a
46	chr12:12510074-12510124	HCM	heart:	n/a
47	chr12:12510064-12510114	NHDF-neo	bronchial:	n/a
48	chr12:12510070-12510120	HRE	kidney:	n/a
49	chr12:12510067-12510117	AG09309	skin:	n/a
50	chr12:12510074-12510124	GM12892	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:12507773..12511633-chr12:12848137..12852132,5	K562	blood:
2	chr12:12507988..12510235-chr12:12714031..12716523,2	MCF-7	breast:
3	chr12:12509822..12510620-chr20:34252555..34253334,2	NB4	blood:
4	chr12:12502870..12504833-chr12:12508269..12511200,3	K562	blood:
5	chr12:12509599..12512153-chr12:12848294..12850312,2	MCF-7	breast:
6	chr12:12419774..12421330-chr12:12508637..12511348,2	MCF-7	breast:
7	chr12:12509167..12512867-chr12:12713185..12715471,5	MCF-7	breast:
8	chr12:12501083..12504981-chr12:12508403..12511914,10	MCF-7	breast:
9	chr12:12501756..12503820-chr12:12509545..12511706,2	MCF-7	breast:
10	chr12:12509935..12510689-chr2:47403529..47404435,2	NB4	blood:
11	chr12:12508678..12514314-chr12:12868637..12874427,7	K562	blood:
12	chr12:12509330..12511597-chr12:12874960..12877485,2	K562	blood:
13	chr12:12508799..12512106-chr12:12876417..12880418,4	MCF-7	breast:
14	chr12:12509229..12511438-chr12:12866532..12868285,2	MCF-7	breast:
15	chr12:12509936..12510437-chr19:48752407..48753106,2	NB4	blood:
16	chr12:12509330..12513233-chr12:12874960..12880946,8	K562	blood:
17	chr12:12509983..12510584-chr7:150020762..150021311,2	Hela-S3	cervix:
18	chr12:12508122..12513324-chr12:12871018..12878415,8	MCF-7	breast:
19	chr12:12502870..12505613-chr12:12507814..12511200,4	K562	blood:

No data

Variant related genes	Relation type
LOH12CR2	TF binding region
LOH12CR1	TF binding region
LOH12CR2	CpG island
LOH12CR1	CpG island
ENSG00000143933	Chromatin interaction
ENSG00000214078	Chromatin interaction
ENSG00000070018	Chromatin interaction
ENSG00000256658	Chromatin interaction
ENSG00000111266	Chromatin interaction
ENSG00000178878	Chromatin interaction
ENSG00000111276	Chromatin interaction
ENSG00000105483	Chromatin interaction
ENSG00000111261	Chromatin interaction
ENSG00000183150	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000244462	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12821572	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35190429	0.82[EUR][1000 genomes]
rs71457148	0.98[EUR][1000 genomes]
rs71457149	0.98[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898808	chr12:12463407-12549503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1036040	chr12:12506839-12541869	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1037542	chr12:12506839-12542868	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1045637	chr12:12506839-12546747	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12509200-12510600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:12509200-12511200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:12509400-12510200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:12509400-12510200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:12509400-12510400	Active TSS	Placenta Amnion	Placenta Amnion
6	chr12:12509400-12510600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:12509400-12510600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:12509400-12510800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr12:12509400-12510800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:12509400-12510800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr12:12509400-12510800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr12:12509400-12510800	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:12509400-12510800	Active TSS	HSMMtube	muscle
14	chr12:12509400-12511200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:12509400-12511400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:12509400-12511400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:12509400-12511400	Active TSS	Pancreas	Pancrea
18	chr12:12509400-12511400	Active TSS	Psoas Muscle	Psoas
19	chr12:12509400-12511600	Flanking Active TSS	HMEC	breast
20	chr12:12509400-12511800	Active TSS	Right Atrium	heart
21	chr12:12509600-12510600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr12:12509600-12510600	Active TSS	Fetal Muscle Leg	muscle
23	chr12:12509600-12510600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:12509600-12510600	Active TSS	HUVEC	blood vessel
25	chr12:12509600-12510800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:12509600-12510800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:12509600-12510800	Active TSS	Colon Smooth Muscle	Colon
28	chr12:12509600-12510800	Active TSS	Duodenum Mucosa	Duodenum
29	chr12:12509600-12510800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr12:12509600-12510800	Active TSS	Fetal Intestine Large	intestine
31	chr12:12509600-12510800	Active TSS	Fetal Kidney	kidney
32	chr12:12509600-12510800	Active TSS	Placenta	Placenta
33	chr12:12509600-12510800	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr12:12509600-12510800	Active TSS	Stomach Mucosa	stomach
35	chr12:12509600-12510800	Active TSS	Stomach Smooth Muscle	stomach
36	chr12:12509600-12510800	Active TSS	Thymus	Thymus
37	chr12:12509600-12510800	Active TSS	NH-A	brain
38	chr12:12509600-12511000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr12:12509600-12511000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:12509600-12511000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:12509600-12511000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:12509600-12511000	Active TSS	Left Ventricle	heart
43	chr12:12509600-12511000	Active TSS	Ovary	ovary
44	chr12:12509600-12511200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr12:12509600-12511200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:12509600-12511200	Active TSS	Brain Substantia Nigra	brain
47	chr12:12509600-12511200	Active TSS	Right Ventricle	heart
48	chr12:12509600-12511400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr12:12509600-12511400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:12509600-12511400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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