Variant report

Variant	nsv820442
Chromosome Location	chr12:8361291-8379197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:916)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
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	chr12:8367256-8367331	LNCaP	prostate:	n/a	n/a
4	CTCF	chr12:8377005-8377080	GM13976	blood:	n/a	n/a
5	CTCF	chr12:8364873-8364974	GM10248	blood:	n/a	n/a
6	CTCF	chr12:8366831-8366895	Lung_OC	lung:	n/a	n/a
7	CTCF	chr12:8372082-8372178	GM10266	blood:	n/a	n/a
8	CTCF	chr12:8371828-8372079	K562	blood:	n/a	n/a
9	CTCF	chr12:8371892-8371906	K562	blood:	n/a	n/a
10	FOXP2	chr12:8373951-8374224	PFSK-1	brain:	n/a	n/a
11	KAP1	chr12:8371497-8372014	U2OS	brain:	n/a	n/a
12	KAP1	chr12:8371528-8372043	HEK293	kidney:	n/a	n/a
13	MAFF	chr12:8369036-8369239	HepG2	liver:	n/a	n/a
14	MAFK	chr12:8369013-8369260	HepG2	liver:	n/a	chr12:8369241-8369252 chr12:8369241-8369252 chr12:8369087-8369102
15	MAFK	chr12:8369020-8369253	HepG2	liver:	n/a	chr12:8369241-8369252 chr12:8369241-8369252 chr12:8369087-8369102
16	POLR2A	chr12:8374071-8374274	HUVEC	blood vessel:	n/a	n/a
17	ZMIZ1	chr12:8379053-8379216	K562	blood:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8376090-8376140	ProgFib	skin:	n/a
2	chr12:8376090-8376140	ProgFib	skin:	n/a
3	chr12:8372182-8372232	ECC-1	luminal epithelium:	n/a
4	chr12:8371812-8371862	AG09309	skin:	n/a
5	chr12:8376090-8376140	AoSMC	blood vessel:	n/a
6	chr12:8374206-8374256	SK-N-SH	brain:	n/a
7	chr12:8377808-8377858	HRCEpiC	kidney:	n/a
8	chr12:8375310-8375360	HRCEpiC	kidney:	n/a
9	chr12:8375310-8375360	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:8374133-8374183	Caco-2	colon:	n/a
11	chr12:8376943-8376993	AG04449	skin:	fetal
12	chr12:8371812-8371862	HUVEC	blood vessel:	n/a
13	chr12:8376943-8376993	A549	lung:	n/a
14	chr12:8374133-8374183	AG04449	skin:	fetal
15	chr12:8375310-8375360	T-47D	breast:	n/a
16	chr12:8371626-8371676	HIPEpiC	eye:	n/a
17	chr12:8375674-8375724	HIPEpiC	eye:	n/a
18	chr12:8377512-8377562	A549	lung:	n/a
19	chr12:8375674-8375724	NB4	blood:	n/a
20	chr12:8374206-8374256	HRE	kidney:	n/a
21	chr12:8374206-8374256	A549	lung:	n/a
22	chr12:8377808-8377858	NT2-D1	testis:	n/a
23	chr12:8371924-8371974	AG09309	skin:	n/a
24	chr12:8378308-8378358	SK-N-MC	brain:	n/a
25	chr12:8375310-8375360	RPTEC	kidney:	n/a
26	chr12:8371924-8371974	Hepatocyte	liver:	n/a
27	chr12:8375310-8375360	AG09319	gingival:	n/a
28	chr12:8376943-8376993	SAEC	small airway:	n/a
29	chr12:8372478-8372528	CMK	blood:	n/a
30	chr12:8374133-8374183	ProgFib	skin:	n/a
31	chr12:8371924-8371974	RPTEC	kidney:	n/a
32	chr12:8371812-8371862	SK-N-SH	brain:	n/a
33	chr12:8375674-8375724	GM12878	blood:	n/a
34	chr12:8371626-8371676	K562	blood:	n/a
35	chr12:8371812-8371862	GM12892	blood:	n/a
36	chr12:8376090-8376140	RPTEC	kidney:	n/a
37	chr12:8376943-8376993	AG04450	lung:	fetal
38	chr12:8372182-8372232	K562	blood:	n/a
39	chr12:8373953-8374003	GM12891	blood:	n/a
40	chr12:8377512-8377562	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:8375674-8375724	RPTEC	kidney:	n/a
42	chr12:8371626-8371676	PFSK-1	brain:	n/a
43	chr12:8371812-8371862	GM19239	blood:	n/a
44	chr12:8377512-8377562	HCM	heart:	n/a
45	chr12:8372478-8372528	HRPEpiC	eye:	n/a
46	chr12:8374206-8374256	BE2_C	brain:	n/a
47	chr12:8374133-8374183	HRE	kidney:	n/a
48	chr12:8378308-8378358	U87	brain:	n/a
49	chr12:8371626-8371676	NHDF-neo	bronchial:	n/a
50	chr12:8376943-8376993	Hepatocyte	liver:	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:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF705A-1	chr12:8368402-8368631	ENSG00000226711.2
2	lnc-ZNF705A-1	chr12:8378474-8378624	NONHSAT026297
3	lnc-ZNF705A-1	chr12:8378905-8379047	NONHSAT026297

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: 864 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:864 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201161864	chr12:8361311-8361312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201954123	chr12:8361388-8361389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113791459	chr12:8361414-8361415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200538507	chr12:8361418-8361419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150818631	chr12:8361449-8361450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148579310	chr12:8361450-8361451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555924612	chr12:8361482-8361483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201461916	chr12:8361520-8361521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148249674	chr12:8361535-8361536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11612533	chr12:8361536-8361537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531924132	chr12:8361537-8361538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200457304	chr12:8361538-8361539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542094488	chr12:8361539-8361540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372605448	chr12:8361540-8361541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60813305	chr12:8361560-8361561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369584428	chr12:8361561-8361562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572399907	chr12:8361677-8361678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199865195	chr12:8361697-8361698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189280375	chr12:8361702-8361703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181873208	chr12:8361707-8361708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377291516	chr12:8361755-8361756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370842145	chr12:8361807-8361808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4303298	chr12:8361816-8361817	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs185068801	chr12:8361853-8361854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201524399	chr12:8361871-8361872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112093358	chr12:8361876-8361877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73246731	chr12:8361908-8361909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149782639	chr12:8361934-8361935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113078102	chr12:8361957-8361958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146790087	chr12:8362014-8362015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11831655	chr12:8362091-8362092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140692648	chr12:8362105-8362106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7305906	chr12:8362117-8362118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189049144	chr12:8362125-8362126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370283453	chr12:8362256-8362257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71451947	chr12:8362307-8362308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560684995	chr12:8362327-8362328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55875109	chr12:8362331-8362332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374315659	chr12:8362365-8362366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368729626	chr12:8362376-8362377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372367320	chr12:8362468-8362469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372118187	chr12:8362486-8362487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143209345	chr12:8362499-8362500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367850563	chr12:8362517-8362518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146634360	chr12:8362521-8362522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372031769	chr12:8362524-8362525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181601790	chr12:8362535-8362536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543726705	chr12:8362604-8362605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563502709	chr12:8362620-8362621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111536880	chr12:8362674-8362675	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:43 , 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	chr12:8349400-8390000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:8349600-8379600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:8350600-8379800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:8350600-8394800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:8361600-8361800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:8361800-8362200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:8370400-8371400	Enhancers	Pancreas	Pancrea
11	chr12:8371400-8371800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:8371400-8372000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:8371400-8372000	Flanking Active TSS	Pancreas	Pancrea
14	chr12:8371600-8371800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:8371600-8371800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:8371600-8371800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:8371600-8371800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:8371600-8371800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:8371600-8371800	ZNF genes & repeats	Fetal Stomach	stomach
20	chr12:8371600-8372000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:8371600-8372200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:8371600-8372200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:8371800-8373800	Weak transcription	Fetal Stomach	stomach
24	chr12:8371800-8379800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:8372200-8374000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:8373800-8374200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:8373800-8375400	ZNF genes & repeats	Fetal Stomach	stomach
28	chr12:8374000-8374400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:8374000-8374600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr12:8374200-8374600	Enhancers	Adipose Nuclei	Adipose
31	chr12:8374200-8374600	Enhancers	Fetal Muscle Trunk	muscle
32	chr12:8374400-8376400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:8374600-8379800	Weak transcription	Adipose Nuclei	Adipose
34	chr12:8376400-8376800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:8376800-8379800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:8377400-8380200	Weak transcription	Gastric	stomach
37	chr12:8378000-8379600	Weak transcription	Fetal Brain Female	brain
38	chr12:8378800-8379000	Enhancers	GM12878-XiMat	blood
39	chr12:8379000-8379400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:8379000-8379600	Flanking Active TSS	GM12878-XiMat	blood
41	chr12:8379000-8379600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:8379000-8379800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:8379000-8379800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links