Variant report

Variant	nsv469165
Chromosome Location	chr12:21752108-21759006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr12:21752305-21752608	GM12878	blood:	n/a	n/a
2	BHLHE40	chr12:21752420-21752706	GM12878	blood:	n/a	n/a
3	CEBPB	chr12:21758013-21758037	K562	blood:	n/a	n/a
4	CEBPB	chr12:21757827-21758051	HepG2	liver:	n/a	chr12:21757931-21757942
5	E2F4	chr12:21757140-21757319	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr12:21753897-21753978	K562	blood:	n/a	n/a
7	GATA3	chr12:21755972-21756107	SH-SY5Y	brain:	n/a	n/a
8	GTF2F1	chr12:21757297-21757312	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAFK	chr12:21752260-21752268	HepG2	liver:	n/a	n/a
10	MXI1	chr12:21752408-21752566	GM12878	blood:	n/a	n/a
11	PAX5	chr12:21752204-21752690	GM12878	blood:	n/a	chr12:21752208-21752217
12	PAX5	chr12:21752328-21752630	GM12878	blood:	n/a	n/a
13	PAX5	chr12:21752392-21752659	GM12891	blood:	n/a	n/a
14	PAX5	chr12:21752358-21752659	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:21758239-21758291	MCF10A-Er-Src	breast:	n/a	n/a
16	SPI1	chr12:21752345-21752591	GM12878	blood:	n/a	n/a
17	SPI1	chr12:21752262-21752584	GM12891	blood:	n/a	n/a
18	SPI1	chr12:21752021-21752729	GM12878	blood:	n/a	chr12:21752208-21752215
19	WRNIP1	chr12:21752288-21752648	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:21757759-21757809	HepG2	liver:	n/a
2	chr12:21757466-21757516	HEEpiC	esophagus:	n/a
3	chr12:21757466-21757516	AG04449	skin:	fetal
4	chr12:21757466-21757516	HCM	heart:	n/a
5	chr12:21757759-21757809	MCF-7	breast:	n/a
6	chr12:21757466-21757516	PrEC	prostate:	n/a
7	chr12:21757759-21757809	Caco-2	colon:	n/a
8	chr12:21757759-21757809	CMK	blood:	n/a
9	chr12:21757759-21757809	Jurkat	blood:	n/a
10	chr12:21757466-21757516	GM12892	blood:	n/a
11	chr12:21757466-21757516	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:21757466-21757516	PFSK-1	brain:	n/a
13	chr12:21757466-21757516	GM12878	blood:	n/a
14	chr12:21757759-21757809	Hela-S3	cervix:	n/a
15	chr12:21757466-21757516	SAEC	small airway:	n/a
16	chr12:21757466-21757516	NHBE	bronchial:	n/a
17	chr12:21757466-21757516	ovcar-3	ovarian:	n/a
18	chr12:21757759-21757809	PrEC	prostate:	n/a
19	chr12:21757466-21757516	HCT-116	colon:	n/a
20	chr12:21757466-21757516	K562	blood:	n/a
21	chr12:21757759-21757809	GM06990	blood:	n/a
22	chr12:21757466-21757516	MCF10A-Er-Src	breast:	n/a
23	chr12:21757759-21757809	AG09319	gingival:	n/a
24	chr12:21757759-21757809	RPTEC	kidney:	n/a
25	chr12:21757759-21757809	A549	lung:	n/a
26	chr12:21757466-21757516	T-47D	breast:	n/a
27	chr12:21757466-21757516	HUVEC	blood vessel:	n/a
28	chr12:21757759-21757809	PFSK-1	brain:	n/a
29	chr12:21757759-21757809	SK-N-MC	brain:	n/a
30	chr12:21757759-21757809	HCPEpiC	choroid plexus:	n/a
31	chr12:21757759-21757809	IMR90	lung:	fetal
32	chr12:21757759-21757809	MCF10A-Er-Src	breast:	n/a
33	chr12:21757759-21757809	HEK293	kidney:	embryo
34	chr12:21757466-21757516	GM06990	blood:	n/a
35	chr12:21757759-21757809	GM19239	blood:	n/a
36	chr12:21757466-21757516	BE2_C	brain:	n/a
37	chr12:21757466-21757516	NT2-D1	testis:	n/a
38	chr12:21757466-21757516	HRPEpiC	eye:	n/a
39	chr12:21757759-21757809	SK-N-SH	brain:	n/a
40	chr12:21757759-21757809	PANC-1	pancreas:	n/a
41	chr12:21757466-21757516	NB4	blood:	n/a
42	chr12:21757759-21757809	HCT-116	colon:	n/a
43	chr12:21757759-21757809	SKMC	muscle:	n/a
44	chr12:21757759-21757809	AG09309	skin:	n/a
45	chr12:21757759-21757809	ECC-1	luminal epithelium:	n/a
46	chr12:21757759-21757809	HL-60	blood:	n/a
47	chr12:21757466-21757516	BJ	skin:	n/a
48	chr12:21757466-21757516	AG09309	skin:	n/a
49	chr12:21757466-21757516	GM12891	blood:	n/a
50	chr12:21757759-21757809	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21652495..21654593-chr12:21755069..21757657,2	MCF-7	breast:

No data

Variant related genes	Relation type
GYS2	TF binding region
GYS2	CpG island
ENSG00000004700	chromatin interactions

Extended variants
information (count: 199 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10841855	chr12:21752108-21752109	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144465983	chr12:21752145-21752146	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576134061	chr12:21752222-21752223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs541806385	chr12:21752270-21752271	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112235754	chr12:21752316-21752317	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs537514295	chr12:21752363-21752364	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147862266	chr12:21752378-21752379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554763224	chr12:21752387-21752388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574714385	chr12:21752427-21752428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs74066736	chr12:21752468-21752469	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs561874137	chr12:21752517-21752518	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554148534	chr12:21752587-21752588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77460679	chr12:21752602-21752603	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs79234180	chr12:21752609-21752610	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527593104	chr12:21752633-21752634	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs545390818	chr12:21752639-21752640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185833573	chr12:21752640-21752641	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77502321	chr12:21752661-21752662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs368370763	chr12:21752672-21752673	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544416124	chr12:21752727-21752728	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs561021985	chr12:21752876-21752877	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs547328564	chr12:21752900-21752901	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs530275382	chr12:21752923-21752924	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540415044	chr12:21752930-21752931	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs372547934	chr12:21752957-21752958	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192351451	chr12:21753013-21753014	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs560420679	chr12:21753039-21753040	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532649263	chr12:21753048-21753049	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552172195	chr12:21753074-21753075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs146432358	chr12:21753116-21753117	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs531319491	chr12:21753118-21753119	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs153936	chr12:21753158-21753159	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs151268499	chr12:21753161-21753162	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs533986994	chr12:21753263-21753264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs153935	chr12:21753313-21753314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376006281	chr12:21753336-21753337	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs140483727	chr12:21753352-21753353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150433073	chr12:21753384-21753385	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556409143	chr12:21753435-21753436	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368087548	chr12:21753449-21753450	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs138249231	chr12:21753463-21753464	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544589126	chr12:21753505-21753506	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138919758	chr12:21753519-21753520	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs554680862	chr12:21753544-21753545	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574549840	chr12:21753589-21753590	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540429574	chr12:21753604-21753605	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs568990236	chr12:21753638-21753639	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371654246	chr12:21753642-21753643	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs183797218	chr12:21753645-21753646	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs36101842	chr12:21753673-21753674	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21748600-21757200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:21751800-21752200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:21751800-21752200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr12:21751800-21752400	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:21751800-21753400	Flanking Active TSS	Liver	Liver
6	chr12:21752000-21752800	Enhancers	Primary B cells from cord blood	blood
7	chr12:21752200-21752600	Enhancers	GM12878-XiMat	blood
8	chr12:21752200-21757400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:21752400-21752800	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr12:21752400-21753200	Enhancers	Pancreas	Pancrea
11	chr12:21752400-21753600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:21752400-21754600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:21753200-21757600	Weak transcription	Pancreas	Pancrea
14	chr12:21753400-21753800	Active TSS	Liver	Liver
15	chr12:21753600-21754000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:21753800-21755400	Flanking Active TSS	Liver	Liver
17	chr12:21754000-21754200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:21754000-21754600	Enhancers	Brain Hippocampus Middle	brain
19	chr12:21754200-21754600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:21754600-21757200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:21755400-21757800	Active TSS	Liver	Liver
22	chr12:21755600-21756200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:21755600-21756800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:21755600-21756800	Enhancers	Adipose Nuclei	Adipose
25	chr12:21756200-21757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:21756800-21757200	Weak transcription	Adipose Nuclei	Adipose
27	chr12:21756800-21757800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:21757200-21757400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:21757200-21757600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:21757200-21757800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:21757200-21757800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:21757200-21757800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:21757200-21758000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:21757200-21758000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:21757200-21758000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:21757200-21758000	Enhancers	Adipose Nuclei	Adipose
37	chr12:21757400-21757600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:21757400-21757600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:21757400-21758000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:21757400-21758000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:21757600-21757800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:21757600-21758000	Enhancers	Pancreas	Pancrea
43	chr12:21757800-21758000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:21757800-21758000	Weak transcription	Liver	Liver
45	chr12:21758000-21759800	Enhancers	Liver	Liver
46	chr12:21758000-21769000	Weak transcription	Pancreas	Pancrea
47	chr12:21758600-21759200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:21759000-21760000	Enhancers	Fetal Heart	heart

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