Variant report

Variant	esv1799776
Chromosome Location	chr12:124594370-124614538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124604134..124606540-chr12:124636044..124638114,2	K562	blood:
2	chr12:124601171..124602980-chr12:124607988..124610923,3	K562	blood:
3	chr12:124601171..124602980-chr12:124607988..124610923,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF664-2	chr12:124599655-124599680	XLOC_009926
2	lnc-ZNF664-2	chr12:124599655-124599680	XLOC_009926

Variant related genes	Relation type
CNOT6	miRNA target sites

Extended variants
information (count: 754 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:754 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7969413	chr12:124594370-124594371	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112149445	chr12:124594386-124594387	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs373072685	chr12:124594398-124594399	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs825487	chr12:124594407-124594408	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570900386	chr12:124594486-124594487	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs578130477	chr12:124594502-124594503	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs182372515	chr12:124594520-124594521	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563793446	chr12:124594586-124594587	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs4039592	chr12:124594633-124594634	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs397843010	chr12:124594637-124594638	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532046416	chr12:124594651-124594652	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370340740	chr12:124594654-124594655	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538401194	chr12:124594660-124594661	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553909028	chr12:124594664-124594665	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530989448	chr12:124594672-124594673	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139053338	chr12:124594679-124594680	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116047123	chr12:124594688-124594689	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs448623	chr12:124594696-124594697	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547712267	chr12:124594801-124594802	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185554862	chr12:124594807-124594808	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs565797928	chr12:124594813-124594814	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190357826	chr12:124594823-124594824	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs76065204	chr12:124594832-124594833	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs78310380	chr12:124594849-124594850	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs11057455	chr12:124594885-124594886	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141621087	chr12:124594926-124594927	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78236571	chr12:124594937-124594938	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs151081736	chr12:124594944-124594945	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs377360773	chr12:124594958-124594959	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs567302713	chr12:124594959-124594960	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534280747	chr12:124594967-124594968	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539787229	chr12:124595006-124595007	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553631155	chr12:124595085-124595086	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs578166646	chr12:124595151-124595152	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545632126	chr12:124595169-124595170	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs556289424	chr12:124595181-124595182	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs557619963	chr12:124595198-124595199	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182996793	chr12:124595211-124595212	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576235987	chr12:124595281-124595282	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148129745	chr12:124595290-124595291	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561214328	chr12:124595297-124595298	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528497259	chr12:124595298-124595299	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555965599	chr12:124595302-124595303	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12824096	chr12:124595327-124595328	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559624514	chr12:124595379-124595380	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10846604	chr12:124595494-124595495	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188679157	chr12:124595495-124595496	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569543128	chr12:124595580-124595581	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530616937	chr12:124595675-124595676	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112222698	chr12:124595740-124595741	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	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	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124591200-124594400	Weak transcription	HUVEC	blood vessel
2	chr12:124593000-124594600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:124594200-124594400	Enhancers	A549	lung
4	chr12:124594200-124594600	Active TSS	K562	blood
5	chr12:124594400-124594600	Enhancers	HUVEC	blood vessel
6	chr12:124594400-124594800	Flanking Active TSS	A549	lung
7	chr12:124594400-124595600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:124594400-124596000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:124594400-124596200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:124594400-124596800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:124594600-124594800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:124594600-124594800	Flanking Active TSS	K562	blood
13	chr12:124594600-124595200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:124594600-124595200	Enhancers	Stomach Mucosa	stomach
15	chr12:124594600-124595800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:124594600-124595800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:124594600-124596000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:124594600-124596000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr12:124594600-124596000	Flanking Active TSS	HUVEC	blood vessel
20	chr12:124594800-124595000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:124594800-124595200	Enhancers	K562	blood
22	chr12:124594800-124595400	Enhancers	A549	lung
23	chr12:124594800-124595800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:124594800-124595800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:124594800-124596000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:124594800-124596000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr12:124594800-124596000	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:124594800-124596000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:124595200-124595600	Weak transcription	K562	blood
30	chr12:124595200-124595800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:124595600-124596000	Enhancers	K562	blood
32	chr12:124596000-124596800	Enhancers	HUVEC	blood vessel
33	chr12:124596000-124600400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:124596400-124596800	Enhancers	Fetal Kidney	kidney
35	chr12:124596400-124601000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:124596800-124598000	Weak transcription	Fetal Kidney	kidney
37	chr12:124598000-124598400	Enhancers	Fetal Kidney	kidney
38	chr12:124598400-124599400	Weak transcription	Fetal Kidney	kidney
39	chr12:124599600-124601800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr12:124600200-124602200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:124600400-124600600	Enhancers	Fetal Kidney	kidney
42	chr12:124600400-124600800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:124600400-124601000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:124600400-124601000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr12:124600400-124601000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:124600400-124601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:124600400-124601200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr12:124600400-124601200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr12:124600400-124601600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:124600400-124602000	Enhancers	HUES6 Cell Line	embryonic stem cell

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