Variant report

Variant	esv3337838
Chromosome Location	chr12:8335710-8338258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr12:8337544-8337913	K562	blood:	n/a	n/a
2	NR2F2	chr12:8337420-8337957	K562	blood:	n/a	n/a
3	PAX5	chr12:8335912-8336343	GM12878	blood:	n/a	n/a
4	PAX5	chr12:8335952-8336324	GM12878	blood:	n/a	n/a
5	PAX5	chr12:8336006-8336252	GM12878	blood:	n/a	n/a
6	PAX5	chr12:8335787-8336379	GM12878	blood:	n/a	n/a
7	PBX3	chr12:8337903-8338023	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	chr12:8337217-8337267	AoSMC	blood vessel:	n/a
2	chr12:8336589-8336639	SK-N-SH	brain:	n/a
3	chr12:8337217-8337267	MCF-7	breast:	n/a
4	chr12:8337217-8337267	NHBE	bronchial:	n/a
5	chr12:8337217-8337267	HRCEpiC	kidney:	n/a
6	chr12:8337217-8337267	SK-N-MC	brain:	n/a
7	chr12:8337217-8337267	SK-N-SH	brain:	n/a
8	chr12:8336589-8336639	BE2_C	brain:	n/a
9	chr12:8337217-8337267	GM12891	blood:	n/a
10	chr12:8337217-8337267	AG04450	lung:	fetal
11	chr12:8336589-8336639	LNCaP	prostate:	n/a
12	chr12:8337217-8337267	U87	brain:	n/a
13	chr12:8337217-8337267	Hela-S3	cervix:	n/a
14	chr12:8336589-8336639	GM06990	blood:	n/a
15	chr12:8336589-8336639	AG10803	skin:	n/a
16	chr12:8336589-8336639	IMR90	lung:	fetal
17	chr12:8337217-8337267	PFSK-1	brain:	n/a
18	chr12:8336589-8336639	GM12891	blood:	n/a
19	chr12:8336589-8336639	RPTEC	kidney:	n/a
20	chr12:8336589-8336639	HUVEC	blood vessel:	n/a
21	chr12:8336589-8336639	GM12892	blood:	n/a
22	chr12:8336589-8336639	SAEC	small airway:	n/a
23	chr12:8336589-8336639	HL-60	blood:	n/a
24	chr12:8336589-8336639	BJ	skin:	n/a
25	chr12:8336589-8336639	NHDF-neo	bronchial:	n/a
26	chr12:8336589-8336639	Caco-2	colon:	n/a
27	chr12:8337217-8337267	SAEC	small airway:	n/a
28	chr12:8337217-8337267	CMK	blood:	n/a
29	chr12:8336589-8336639	ECC-1	luminal epithelium:	n/a
30	chr12:8336589-8336639	Hela-S3	cervix:	n/a
31	chr12:8336589-8336639	HepG2	liver:	n/a
32	chr12:8336589-8336639	NH-A	brain:	n/a
33	chr12:8337217-8337267	ovcar-3	ovarian:	n/a
34	chr12:8337217-8337267	RPTEC	kidney:	n/a
35	chr12:8336589-8336639	HCF	heart:	n/a
36	chr12:8336589-8336639	HIPEpiC	eye:	n/a
37	chr12:8336589-8336639	HRPEpiC	eye:	n/a
38	chr12:8336589-8336639	NHBE	bronchial:	n/a
39	chr12:8337217-8337267	K562	blood:	n/a
40	chr12:8337217-8337267	GM12892	blood:	n/a
41	chr12:8337217-8337267	HCM	heart:	n/a
42	chr12:8337217-8337267	A549	lung:	n/a
43	chr12:8337217-8337267	HAEpiC	amniotic membrane:	n/a
44	chr12:8336589-8336639	AG04450	lung:	fetal
45	chr12:8336589-8336639	HCPEpiC	choroid plexus:	n/a
46	chr12:8337217-8337267	HCT-116	colon:	n/a
47	chr12:8336589-8336639	HEEpiC	esophagus:	n/a
48	chr12:8336589-8336639	CMK	blood:	n/a
49	chr12:8336589-8336639	PFSK-1	brain:	n/a
50	chr12:8336589-8336639	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
FAM66C	TF binding region
FAM66C	CpG island

Extended variants
information (count: 84 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201085497	chr12:8335718-8335719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11043797	chr12:8335722-8335723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146185711	chr12:8335723-8335724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56250204	chr12:8335726-8335727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113518279	chr12:8335730-8335731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115034736	chr12:8335756-8335757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190311261	chr12:8335784-8335785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182165434	chr12:8335951-8335952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372634197	chr12:8335966-8335967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147816444	chr12:8335971-8335972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55649908	chr12:8336011-8336012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs374942686	chr12:8336067-8336068	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs11043799	chr12:8336109-8336110	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11043800	chr12:8336212-8336213	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs374220195	chr12:8336292-8336293	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs577950742	chr12:8336345-8336346	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376155567	chr12:8336370-8336371	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201963847	chr12:8336395-8336396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371249188	chr12:8336419-8336420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74487723	chr12:8336424-8336425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11043803	chr12:8336430-8336431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61922214	chr12:8336506-8336507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11043808	chr12:8336594-8336595	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs373276978	chr12:8336605-8336606	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs11043809	chr12:8336629-8336630	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs11043810	chr12:8336662-8336663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11043811	chr12:8336671-8336672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372157756	chr12:8336782-8336783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75907597	chr12:8336800-8336801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113512974	chr12:8336804-8336805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76053311	chr12:8336844-8336845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200191473	chr12:8336851-8336852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369495834	chr12:8336853-8336854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372478112	chr12:8336857-8336858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200279538	chr12:8336927-8336928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201484667	chr12:8336931-8336932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181958153	chr12:8336977-8336978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199769919	chr12:8337074-8337075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184383185	chr12:8337076-8337077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75985621	chr12:8337090-8337091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76111495	chr12:8337177-8337178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200905128	chr12:8337179-8337180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186133440	chr12:8337186-8337187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111817064	chr12:8337201-8337202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79027114	chr12:8337203-8337204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61922215	chr12:8337229-8337230	Weak transcription	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs79263015	chr12:8337231-8337232	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs80151976	chr12:8337239-8337240	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs75684458	chr12:8337263-8337264	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs77777647	chr12:8337285-8337286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	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
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8333200-8336000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:8333400-8336000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:8333400-8336400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:8333400-8379800	Weak transcription	Brain Substantia Nigra	brain
5	chr12:8333600-8336400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:8333800-8352200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:8334200-8347600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:8334200-8352400	Weak transcription	Fetal Stomach	stomach
9	chr12:8334600-8349000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:8335000-8350000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:8335200-8379800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:8336000-8336400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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