Variant report

Variant	nsv1052026
Chromosome Location	chr12:73231379-73367875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:73278361..73280409-chr12:73393211..73395574,2	K562	blood:
2	chr12:73360278..73363130-chr12:73365904..73367534,2	K562	blood:
3	chr12:73329562..73331929-chr12:73334253..73335865,2	MCF-7	breast:
4	chr12:73280330..73282647-chr12:73282776..73285288,2	K562	blood:
5	chr12:73280330..73282647-chr12:73282776..73285288,2	K562	blood:
6	chr12:73361630..73364620-chr12:73364832..73367404,2	K562	blood:
7	chr12:73276124..73278278-chr12:73280088..73282013,2	K562	blood:
8	chr12:73360278..73363130-chr12:73365904..73367534,2	K562	blood:
9	chr12:73279777..73282647-chr12:73282776..73285810,4	K562	blood:
10	chr12:73361630..73364620-chr12:73364832..73367404,2	K562	blood:
11	chr12:73279777..73282647-chr12:73282776..73285810,4	K562	blood:
12	chr12:73276124..73278278-chr12:73280088..73282013,2	K562	blood:
13	chr12:73279960..73282832-chr12:73288146..73290237,2	K562	blood:
14	chr12:73329562..73331929-chr12:73334253..73335865,2	MCF-7	breast:
15	chr12:73279960..73282832-chr12:73288146..73290237,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRHDE-1	chr12:73318544-73318675	XLOC_009803
2	lnc-TRHDE-1	chr12:73352845-73352944	XLOC_009803
3	lnc-TRHDE-1	chr12:73362420-73362470	XLOC_009803
4	lnc-TRHDE-1	chr12:73367333-73367380	XLOC_009803
5	lnc-TRHDE-1	chr12:73362033-73362097	XLOC_009803

No data

Variant related genes	Relation type
UBE2Q1	miRNA target sites
UBE2W	miRNA target sites
UBE2R2	miRNA target sites

Extended variants
information (count: 1129 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1129 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34358788	chr12:73232607-73232608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571328779	chr12:73232611-73232612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533519308	chr12:73232629-73232630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11179399	chr12:73232636-73232637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567425531	chr12:73232662-73232663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548623079	chr12:73232702-73232703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7973552	chr12:73232709-73232710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs117643665	chr12:73232727-73232728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139543643	chr12:73232735-73232736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149302351	chr12:73232741-73232742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191444458	chr12:73232776-73232777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369711023	chr12:73232850-73232851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182211759	chr12:73232860-73232861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547061886	chr12:73232901-73232902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187715484	chr12:73232924-73232925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575877197	chr12:73232929-73232930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144594968	chr12:73232944-73232945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148489908	chr12:73232948-73232949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570823803	chr12:73232982-73232983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145027757	chr12:73232989-73232990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556366906	chr12:73233021-73233022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574574386	chr12:73233051-73233052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542347184	chr12:73233056-73233057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4760842	chr12:73233116-73233117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147573232	chr12:73233140-73233141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545888604	chr12:73233145-73233146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192734044	chr12:73233152-73233153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375420122	chr12:73233197-73233198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557928922	chr12:73233246-73233247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556572664	chr12:73233247-73233248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375912690	chr12:73233251-73233252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4760843	chr12:73233262-73233263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547517906	chr12:73233282-73233283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565643506	chr12:73233293-73233294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532905062	chr12:73233303-73233304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144258960	chr12:73233333-73233334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554174330	chr12:73233364-73233365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538181521	chr12:73233375-73233376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556326201	chr12:73233383-73233384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555982773	chr12:73233407-73233408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568359302	chr12:73233413-73233414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535672847	chr12:73233454-73233455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75268480	chr12:73233469-73233470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60853242	chr12:73233541-73233542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35335191	chr12:73233552-73233553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148732056	chr12:73233557-73233558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151175556	chr12:73233563-73233564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34716923	chr12:73233624-73233625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188479147	chr12:73233651-73233652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543391527	chr12:73233657-73233658	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73232600-73234400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:73232800-73234400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:73233200-73234600	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:73233600-73233800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:73251200-73251400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr12:73262200-73262400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:73262400-73262600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:73262600-73266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:73262800-73263000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:73262800-73263200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:73263000-73265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:73263200-73266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:73265600-73266400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:73265600-73267000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:73265600-73267200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:73265800-73266200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:73265800-73266200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr12:73265800-73266600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:73265800-73267400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:73265800-73267400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:73265800-73267600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:73266000-73266600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:73266000-73266600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:73266000-73267000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:73266200-73266400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr12:73266200-73266600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr12:73266200-73266600	Enhancers	Fetal Kidney	kidney
28	chr12:73266200-73267000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr12:73266400-73266600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:73266400-73267400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr12:73266600-73266800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr12:73266600-73267200	Active TSS	Fetal Kidney	kidney
33	chr12:73266800-73267000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:73266800-73267400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:73266800-73267400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:73267200-73267400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
37	chr12:73267400-73273800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:73273800-73274200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:73277200-73277400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:73277400-73278000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:73278000-73280000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:73278400-73280000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:73280000-73282600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:73281400-73285200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:73282000-73285400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:73282200-73285200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:73282200-73285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr12:73282400-73285200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:73282400-73285200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:73282400-73285400	Enhancers	HUES64 Cell Line	embryonic stem cell

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