Variant report

Variant	nsv1047926
Chromosome Location	chr12:33427153-33493458
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:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33436159..33437882-chr12:33438934..33441225,2	K562	blood:
2	chr12:33448730..33452816-chr12:33453683..33457661,3	MCF-7	breast:
3	chr12:33448730..33452816-chr12:33453683..33457661,3	MCF-7	breast:
4	chr12:33436159..33437882-chr12:33438934..33441225,2	K562	blood:
5	chr12:33473127..33474960-chr12:33481673..33483733,2	MCF-7	breast:
6	chr12:33473127..33474960-chr12:33481673..33483733,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYT10-1	chr12:33470300-33470504	NONHSAT027638
2	lnc-SYT10-1	chr12:33466706-33466743	XLOC_010048
3	lnc-DNM1L-2	chr12:33475124-33475320	XLOC_009706
4	lnc-SYT10-1	chr12:33470301-33470504	XLOC_010048
5	lnc-SYT10-1	chr12:33466705-33466743	NONHSAT027638
6	lnc-DNM1L-2	chr12:33470704-33470823	XLOC_009706

No data

Variant related genes	Relation type
LGR4	miRNA target sites
TAF15	miRNA target sites

Extended variants
information (count: 1698 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1698 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558161799	chr12:33427181-33427182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373927681	chr12:33427245-33427246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181041814	chr12:33427351-33427352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544002916	chr12:33427364-33427365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117575102	chr12:33427371-33427372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554269056	chr12:33427380-33427381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74670805	chr12:33427388-33427389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552152830	chr12:33427417-33427418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185467675	chr12:33427439-33427440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561715563	chr12:33427458-33427459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78228056	chr12:33427510-33427511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144611395	chr12:33427572-33427573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563776736	chr12:33427595-33427596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377709547	chr12:33427626-33427627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147906172	chr12:33427627-33427628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202116094	chr12:33427674-33427675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398076562	chr12:33427682-33427683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71068375	chr12:33427683-33427684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11052584	chr12:33427701-33427702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141619181	chr12:33427714-33427715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374549290	chr12:33427716-33427717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190273076	chr12:33427728-33427729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183375816	chr12:33427729-33427730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569330671	chr12:33427768-33427769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538578507	chr12:33427782-33427783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558481931	chr12:33427803-33427804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200982359	chr12:33427814-33427815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145250322	chr12:33427823-33427824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188782023	chr12:33427842-33427843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs1601143	chr12:33427846-33427847	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115623644	chr12:33427901-33427902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112473309	chr12:33427993-33427994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs77163558	chr12:33428033-33428034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145022385	chr12:33428035-33428036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs575334914	chr12:33428127-33428128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs149079276	chr12:33428168-33428169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs563992031	chr12:33428176-33428177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs117307081	chr12:33428193-33428194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77543479	chr12:33428201-33428202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529013532	chr12:33428249-33428250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548802081	chr12:33428253-33428254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368985150	chr12:33428264-33428265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12297103	chr12:33428265-33428266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181317871	chr12:33428266-33428267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12297107	chr12:33428267-33428268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544382093	chr12:33428268-33428269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143208739	chr12:33428381-33428382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375335636	chr12:33428399-33428400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571944933	chr12:33428406-33428407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562052054	chr12:33428407-33428408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33418600-33427800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33427800-33428200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:33428200-33429800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:33432600-33436400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:33439200-33445600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:33442600-33443200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:33445600-33445800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:33447200-33447400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:33447400-33449200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:33447600-33447800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:33449200-33449400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:33449400-33459600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:33459000-33459800	Enhancers	Ovary	ovary
14	chr12:33459400-33459600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:33459600-33459800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:33459600-33460000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:33459600-33460600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:33460000-33461400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:33460400-33460800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:33460400-33461600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:33461000-33461800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr12:33463000-33463600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:33463200-33463400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:33463600-33463800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:33466400-33466800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:33466600-33468400	Enhancers	Fetal Intestine Large	intestine
27	chr12:33467000-33467800	Enhancers	Placenta	Placenta
28	chr12:33467400-33468000	Enhancers	Fetal Intestine Small	intestine
29	chr12:33467600-33469200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:33468400-33469400	Weak transcription	Fetal Intestine Large	intestine
31	chr12:33469200-33472400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:33469400-33471800	Enhancers	Fetal Intestine Large	intestine
33	chr12:33470600-33471800	Enhancers	Fetal Intestine Small	intestine
34	chr12:33471800-33477000	Weak transcription	Fetal Intestine Large	intestine
35	chr12:33472400-33473600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:33475400-33475800	Enhancers	Fetal Brain Male	brain
37	chr12:33475400-33475800	Enhancers	K562	blood
38	chr12:33475600-33475800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:33475800-33477200	Weak transcription	Fetal Brain Male	brain
40	chr12:33477000-33477800	Enhancers	Fetal Intestine Large	intestine
41	chr12:33477200-33477800	Enhancers	Fetal Brain Male	brain
42	chr12:33483400-33484200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:33484000-33485200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:33484600-33485000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:33484800-33485200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:33484800-33485200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:33484800-33485200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:33485000-33485200	Enhancers	HUES6 Cell Line	embryonic stem cell

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