Variant report

Variant	esv2760237
Chromosome Location	chr12:8357507-8378251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:854)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:8371647-8371788	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:8371821-8372126	K562	blood:	n/a	n/a
3	CTCF	chr12:8366831-8366895	Lung_OC	lung:	n/a	n/a
4	CTCF	chr12:8371892-8371906	K562	blood:	n/a	n/a
5	CTCF	chr12:8372082-8372178	GM10266	blood:	n/a	n/a
6	CTCF	chr12:8377005-8377080	GM13976	blood:	n/a	n/a
7	CTCF	chr12:8367256-8367331	LNCaP	prostate:	n/a	n/a
8	CTCF	chr12:8371828-8372079	K562	blood:	n/a	n/a
9	CTCF	chr12:8364873-8364974	GM10248	blood:	n/a	n/a
10	CTCF	chr12:8358972-8359063	Kidney_OC	kidney:	n/a	chr12:8359044-8359051
11	FOXP2	chr12:8373951-8374224	PFSK-1	brain:	n/a	n/a
12	KAP1	chr12:8371497-8372014	U2OS	brain:	n/a	n/a
13	KAP1	chr12:8371528-8372043	HEK293	kidney:	n/a	n/a
14	MAFF	chr12:8369036-8369239	HepG2	liver:	n/a	n/a
15	MAFK	chr12:8369020-8369253	HepG2	liver:	n/a	chr12:8369241-8369252 chr12:8369241-8369252 chr12:8369087-8369102
16	MAFK	chr12:8369013-8369260	HepG2	liver:	n/a	chr12:8369241-8369252 chr12:8369241-8369252 chr12:8369087-8369102
17	POLR2A	chr12:8374071-8374274	HUVEC	blood vessel:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8372478-8372528	RPTEC	kidney:	n/a
2	chr12:8371924-8371974	HEEpiC	esophagus:	n/a
3	chr12:8371812-8371862	Caco-2	colon:	n/a
4	chr12:8375310-8375360	HRPEpiC	eye:	n/a
5	chr12:8373953-8374003	ProgFib	skin:	n/a
6	chr12:8375674-8375724	U87	brain:	n/a
7	chr12:8372182-8372232	GM12892	blood:	n/a
8	chr12:8376090-8376140	GM12878	blood:	n/a
9	chr12:8372182-8372232	ProgFib	skin:	n/a
10	chr12:8371812-8371862	H1-hESC	embryonic stem cell:	embryo
11	chr12:8372478-8372528	HepG2	liver:	n/a
12	chr12:8376090-8376140	CMK	blood:	n/a
13	chr12:8372182-8372232	SAEC	small airway:	n/a
14	chr12:8372478-8372528	GM06990	blood:	n/a
15	chr12:8372182-8372232	HAEpiC	amniotic membrane:	n/a
16	chr12:8375310-8375360	HepG2	liver:	n/a
17	chr12:8371626-8371676	SK-N-MC	brain:	n/a
18	chr12:8371924-8371974	GM12878	blood:	n/a
19	chr12:8374206-8374256	A549	lung:	n/a
20	chr12:8373953-8374003	NHBE	bronchial:	n/a
21	chr12:8376943-8376993	ECC-1	luminal epithelium:	n/a
22	chr12:8375674-8375724	MCF-7	breast:	n/a
23	chr12:8377808-8377858	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:8371626-8371676	HMEC	breast:	n/a
25	chr12:8371626-8371676	HAEpiC	amniotic membrane:	n/a
26	chr12:8371924-8371974	HCM	heart:	n/a
27	chr12:8376943-8376993	LNCaP	prostate:	n/a
28	chr12:8373953-8374003	MCF-7	breast:	n/a
29	chr12:8375310-8375360	HUVEC	blood vessel:	n/a
30	chr12:8374206-8374256	SKMC	muscle:	n/a
31	chr12:8374206-8374256	Caco-2	colon:	n/a
32	chr12:8373953-8374003	HCT-116	colon:	n/a
33	chr12:8375310-8375360	HNPCEpiC	eye:	n/a
34	chr12:8377512-8377562	HRCEpiC	kidney:	n/a
35	chr12:8371924-8371974	GM06990	blood:	n/a
36	chr12:8376090-8376140	H1-hESC	embryonic stem cell:	embryo
37	chr12:8377512-8377562	HL-60	blood:	n/a
38	chr12:8375674-8375724	NB4	blood:	n/a
39	chr12:8371812-8371862	GM12892	blood:	n/a
40	chr12:8374206-8374256	SAEC	small airway:	n/a
41	chr12:8375674-8375724	PrEC	prostate:	n/a
42	chr12:8375310-8375360	H1-hESC	embryonic stem cell:	embryo
43	chr12:8372182-8372232	PrEC	prostate:	n/a
44	chr12:8374133-8374183	PANC-1	pancreas:	n/a
45	chr12:8371812-8371862	PrEC	prostate:	n/a
46	chr12:8371924-8371974	HIPEpiC	eye:	n/a
47	chr12:8377512-8377562	NB4	blood:	n/a
48	chr12:8372182-8372232	Hela-S3	cervix:	n/a
49	chr12:8374133-8374183	HEK293	kidney:	embryo
50	chr12:8377512-8377562	SKMC	muscle:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8377558..8379489-chr12:8392400..8395227,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF705A-1	chr12:8368402-8368631	ENSG00000226711.2
2	lnc-FAM90A1-2	chr12:8359252-8359306	NONHSAT026302

No data

Variant related genes	Relation type
ENSG00000244050	TF binding region
ALG1L10P	TF binding region
ENSG00000266026	TF binding region
ENSG00000244050	CpG island
ALG1L10P	CpG island
ENSG00000266026	CpG island

Extended variants
information (count: 918 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12311395	chr12:8357507-8357508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12304428	chr12:8357524-8357525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190764750	chr12:8357557-8357558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182629421	chr12:8357575-8357576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186739967	chr12:8357616-8357617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200870743	chr12:8357636-8357637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144267844	chr12:8357640-8357641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190606994	chr12:8357654-8357655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201331620	chr12:8357658-8357659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200143020	chr12:8357715-8357716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200889502	chr12:8357788-8357789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55793011	chr12:8357811-8357812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs202003169	chr12:8357823-8357824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141543484	chr12:8357836-8357837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376873114	chr12:8357886-8357887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576948917	chr12:8357925-8357926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200436066	chr12:8357951-8357952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10770342	chr12:8357956-8357957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs202237212	chr12:8357967-8357968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200371110	chr12:8357969-8357970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372391411	chr12:8357970-8357971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72475414	chr12:8357985-8357986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562961692	chr12:8357992-8357993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201327544	chr12:8358020-8358021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199534657	chr12:8358048-8358049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10841001	chr12:8358053-8358054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs201589220	chr12:8358070-8358071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148087297	chr12:8358092-8358093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141691969	chr12:8358136-8358137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201057248	chr12:8358137-8358138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141984639	chr12:8358141-8358142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201464087	chr12:8358142-8358143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199703450	chr12:8358185-8358186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372573914	chr12:8358225-8358226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182897486	chr12:8358261-8358262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542346316	chr12:8358265-8358266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199926494	chr12:8358285-8358286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3111343	chr12:8358315-8358316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369008225	chr12:8358327-8358328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201020505	chr12:8358329-8358330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201641906	chr12:8358337-8358338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562027599	chr12:8358428-8358429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199825897	chr12:8358470-8358471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73248205	chr12:8358500-8358501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370735359	chr12:8358523-8358524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4548691	chr12:8358550-8358551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs188646866	chr12:8358555-8358556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576983515	chr12:8358609-8358610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74473619	chr12:8358625-8358626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199892838	chr12:8358665-8358666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8333400-8379800	Weak transcription	Brain Substantia Nigra	brain
2	chr12:8335200-8379800	Weak transcription	Brain Angular Gyrus	brain
3	chr12:8347000-8379800	Weak transcription	Brain Anterior Caudate	brain
4	chr12:8348200-8359000	Weak transcription	Fetal Brain Female	brain
5	chr12:8349400-8390000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:8349600-8379600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:8350600-8379800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:8350600-8394800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:8360800-8361000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:8361600-8361800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:8361800-8362200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:8370400-8371400	Enhancers	Pancreas	Pancrea
13	chr12:8371400-8371800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:8371400-8372000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:8371400-8372000	Flanking Active TSS	Pancreas	Pancrea
16	chr12:8371600-8371800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:8371600-8371800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:8371600-8371800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:8371600-8371800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:8371600-8371800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:8371600-8371800	ZNF genes & repeats	Fetal Stomach	stomach
22	chr12:8371600-8372000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:8371600-8372200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:8371600-8372200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:8371800-8373800	Weak transcription	Fetal Stomach	stomach
26	chr12:8371800-8379800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:8372200-8374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:8373800-8374200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:8373800-8375400	ZNF genes & repeats	Fetal Stomach	stomach
30	chr12:8374000-8374400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:8374000-8374600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr12:8374200-8374600	Enhancers	Adipose Nuclei	Adipose
33	chr12:8374200-8374600	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:8374400-8376400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:8374600-8379800	Weak transcription	Adipose Nuclei	Adipose
36	chr12:8376400-8376800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:8376800-8379800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:8377400-8380200	Weak transcription	Gastric	stomach
39	chr12:8378000-8379600	Weak transcription	Fetal Brain Female	brain

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