Variant report

Variant	nsv558332
Chromosome Location	chr12:34778715-34849243
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
2	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
3	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
4	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
5	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
6	chr1:121482950..121485225-chr12:34844826..34846345,4	MCF-7	breast:
7	chr12:34191233..34191868-chr12:34777963..34778741,2	MCF-7	breast:
8	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
9	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:

No data

Extended variants
information (count: 6089 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:6089 , 50 per page) page: 1 2 3 4 5 6 7 ... 122

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11829528	chr12:34778715-34778716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539741231	chr12:34778719-34778720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568752900	chr12:34778720-34778721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537321752	chr12:34778755-34778756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111499365	chr12:34778791-34778792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11836654	chr12:34778808-34778809	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145865510	chr12:34778809-34778810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553030532	chr12:34778813-34778814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181120126	chr12:34778846-34778847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185713195	chr12:34778862-34778863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117440573	chr12:34778877-34778878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561696768	chr12:34778888-34778889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575630559	chr12:34778889-34778890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544469088	chr12:34778898-34778899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563680321	chr12:34778936-34778937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551762101	chr12:34779000-34779001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115135944	chr12:34779012-34779013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149014565	chr12:34779014-34779015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559785036	chr12:34779070-34779071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113918224	chr12:34779111-34779112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145538752	chr12:34779127-34779128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191468702	chr12:34779154-34779155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182036309	chr12:34779184-34779185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147723559	chr12:34779187-34779188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372539250	chr12:34779193-34779194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386762113	chr12:34779200-34779201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10844969	chr12:34779201-34779202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs528701336	chr12:34779210-34779211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552827178	chr12:34779223-34779224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187128543	chr12:34779244-34779245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551349692	chr12:34779266-34779267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386762114	chr12:34779283-34779284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575467800	chr12:34779284-34779285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10844971	chr12:34779285-34779286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369157010	chr12:34779287-34779288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142403114	chr12:34779289-34779290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112891858	chr12:34779304-34779305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546196351	chr12:34779308-34779309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146556618	chr12:34779315-34779316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528591523	chr12:34779320-34779321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568912998	chr12:34779346-34779347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561986155	chr12:34779353-34779354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376084800	chr12:34779366-34779367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140440858	chr12:34779375-34779376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373208017	chr12:34779383-34779384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570794902	chr12:34779412-34779413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150414539	chr12:34779413-34779414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558245316	chr12:34779424-34779425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546595985	chr12:34779430-34779431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566296178	chr12:34779436-34779437	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
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
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
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
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	20729466	CNVD

Chromatin state (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34778400-34780000	Enhancers	Liver	Liver
2	chr12:34779200-34779400	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr12:34784600-34786600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:34785600-34792600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr12:34786600-34789200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr12:34787000-34787400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr12:34798800-34802200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr12:34798800-34808000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:34799000-34799400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:34799000-34799400	ZNF genes & repeats	Colon Smooth Muscle	Colon
11	chr12:34799000-34802600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr12:34799000-34803600	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr12:34799000-34805200	ZNF genes & repeats	Liver	Liver
14	chr12:34799200-34799400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:34799200-34799400	ZNF genes & repeats	Fetal Lung	lung
16	chr12:34799200-34799400	ZNF genes & repeats	GM12878-XiMat	blood
17	chr12:34799200-34810000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr12:34800400-34800800	ZNF genes & repeats	Psoas Muscle	Psoas
19	chr12:34801400-34801800	Active TSS	Fetal Heart	heart
20	chr12:34801400-34801800	ZNF genes & repeats	Left Ventricle	heart
21	chr12:34801400-34802600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:34801600-34801800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:34801600-34801800	ZNF genes & repeats	Brain Angular Gyrus	brain
24	chr12:34808600-34812200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr12:34812800-34816800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:34825400-34826000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:34825400-34856400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr12:34825600-34826000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr12:34825600-34826000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr12:34825800-34855800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr12:34825800-34856400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:34830400-34839200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr12:34830800-34832200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:34830800-34832400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr12:34831200-34832000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:34831400-34832200	ZNF genes & repeats	HUVEC	blood vessel
37	chr12:34831600-34833800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr12:34831600-34855600	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr12:34831600-34855800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr12:34831800-34832000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:34831800-34832200	ZNF genes & repeats	K562	blood
42	chr12:34831800-34833200	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:34832000-34832200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
44	chr12:34832000-34832200	ZNF genes & repeats	Fetal Kidney	kidney
45	chr12:34832000-34832400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:34832000-34833200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:34832000-34833600	ZNF genes & repeats	NH-A	brain
48	chr12:34832200-34833200	Weak transcription	Fetal Kidney	kidney
49	chr12:34832200-34833200	Weak transcription	HUVEC	blood vessel
50	chr12:34832200-34833200	Weak transcription	K562	blood

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