Variant report

Variant	esv3363045
Chromosome Location	chr12:9015685-9019183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:9019097-9019338	K562	blood:	n/a	n/a
2	RFX5	chr12:9019066-9019227	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:9019044-9019094	PrEC	prostate:	n/a
2	chr12:9019044-9019094	HUVEC	blood vessel:	n/a
3	chr12:9019044-9019094	GM12892	blood:	n/a
4	chr12:9019044-9019094	GM12891	blood:	n/a
5	chr12:9019044-9019094	AG04450	lung:	fetal
6	chr12:9019044-9019094	HAEpiC	amniotic membrane:	n/a
7	chr12:9019044-9019094	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:9019044-9019094	GM12878	blood:	n/a
9	chr12:9019044-9019094	A549	lung:	n/a
10	chr12:9019044-9019094	LNCaP	prostate:	n/a
11	chr12:9019044-9019094	AG10803	skin:	n/a
12	chr12:9019044-9019094	HepG2	liver:	n/a
13	chr12:9019044-9019094	HCT-116	colon:	n/a
14	chr12:9019044-9019094	HCPEpiC	choroid plexus:	n/a
15	chr12:9019044-9019094	HRCEpiC	kidney:	n/a
16	chr12:9019044-9019094	Jurkat	blood:	n/a
17	chr12:9019044-9019094	HIPEpiC	eye:	n/a
18	chr12:9019044-9019094	ProgFib	skin:	n/a
19	chr12:9019044-9019094	HCF	heart:	n/a
20	chr12:9019044-9019094	SAEC	small airway:	n/a
21	chr12:9019044-9019094	HEEpiC	esophagus:	n/a
22	chr12:9019044-9019094	RPTEC	kidney:	n/a
23	chr12:9019044-9019094	HEK293	kidney:	embryo
24	chr12:9019044-9019094	T-47D	breast:	n/a
25	chr12:9019044-9019094	AoSMC	blood vessel:	n/a
26	chr12:9019044-9019094	SK-N-SH_RA	brain:	n/a
27	chr12:9019044-9019094	AG09309	skin:	n/a
28	chr12:9019044-9019094	MCF-7	breast:	n/a
29	chr12:9019044-9019094	AG04449	skin:	fetal
30	chr12:9019044-9019094	MCF10A-Er-Src	breast:	n/a
31	chr12:9019044-9019094	Hela-S3	cervix:	n/a
32	chr12:9019044-9019094	NHBE	bronchial:	n/a
33	chr12:9019044-9019094	GM19239	blood:	n/a
34	chr12:9019044-9019094	NHDF-neo	bronchial:	n/a
35	chr12:9019044-9019094	HNPCEpiC	eye:	n/a
36	chr12:9019044-9019094	HCM	heart:	n/a
37	chr12:9019044-9019094	K562	blood:	n/a
38	chr12:9019044-9019094	Caco-2	colon:	n/a
39	chr12:9019044-9019094	NH-A	brain:	n/a
40	chr12:9019044-9019094	SK-N-SH	brain:	n/a
41	chr12:9019044-9019094	ECC-1	luminal epithelium:	n/a
42	chr12:9019044-9019094	IMR90	lung:	fetal
43	chr12:9019044-9019094	HL-60	blood:	n/a
44	chr12:9019044-9019094	NT2-D1	testis:	n/a
45	chr12:9019044-9019094	ovcar-3	ovarian:	n/a
46	chr12:9019044-9019094	U87	brain:	n/a
47	chr12:9019044-9019094	HRE	kidney:	n/a
48	chr12:9019044-9019094	SK-N-MC	brain:	n/a
49	chr12:9019044-9019094	GM06990	blood:	n/a
50	chr12:9019044-9019094	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9018817..9020521-chr12:9023671..9026255,2	K562	blood:
2	chr12:9013967..9016629-chr12:9021892..9024498,2	K562	blood:

No data

Variant related genes	Relation type
A2ML1	TF binding region
A2ML1	CpG island

Extended variants
information (count: 132 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113152401	chr12:9015700-9015701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201433005	chr12:9015701-9015702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79188079	chr12:9015713-9015714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11047675	chr12:9015722-9015723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12818553	chr12:9015740-9015741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2377611	chr12:9015763-9015764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10771131	chr12:9015779-9015780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112265896	chr12:9015796-9015797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144303262	chr12:9015849-9015850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386760134	chr12:9015858-9015859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188210337	chr12:9015859-9015860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2110075	chr12:9015860-9015861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183773144	chr12:9015910-9015911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112471956	chr12:9015928-9015929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535745612	chr12:9015929-9015930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111290503	chr12:9015930-9015931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147782003	chr12:9015990-9015991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77343213	chr12:9015996-9015997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191457413	chr12:9016065-9016066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533515832	chr12:9016068-9016069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117344618	chr12:9016141-9016142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386760135	chr12:9016207-9016208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113101237	chr12:9016208-9016209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200549914	chr12:9016209-9016210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374644950	chr12:9016265-9016266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140207305	chr12:9016271-9016272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148812885	chr12:9016295-9016296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73234371	chr12:9016318-9016319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs367547783	chr12:9016343-9016344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371667089	chr12:9016347-9016348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185487647	chr12:9016381-9016382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377220096	chr12:9016398-9016399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143603619	chr12:9016437-9016438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529118583	chr12:9016439-9016440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73040625	chr12:9016456-9016457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148052558	chr12:9016490-9016491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376574474	chr12:9016535-9016536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369641177	chr12:9016544-9016545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200567511	chr12:9016558-9016559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144686314	chr12:9016563-9016564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10219561	chr12:9016573-9016574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375981985	chr12:9016584-9016585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199877166	chr12:9016594-9016595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368827993	chr12:9016600-9016601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190462699	chr12:9016634-9016635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17802489	chr12:9016665-9016666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140837240	chr12:9016692-9016693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572299172	chr12:9016693-9016694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181661028	chr12:9016719-9016720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541225103	chr12:9016731-9016732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8982200-9022000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:8983400-9017600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:8987600-9040000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:8994800-9016600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:8996000-9040000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:8999000-9016400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:9005200-9017800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:9007000-9029600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:9007200-9027600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:9011800-9021600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:9011800-9029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:9012600-9020400	Weak transcription	Esophagus	oesophagus
13	chr12:9013600-9019200	Weak transcription	K562	blood
14	chr12:9013600-9029400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:9013800-9033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:9016400-9016600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:9016400-9016600	Enhancers	Gastric	stomach

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