Variant report

Variant	nsv558345
Chromosome Location	chr12:34833005-34856380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 4469 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:4469 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12578759	chr12:34833005-34833006	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs371216402	chr12:34833035-34833036	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201702336	chr12:34833043-34833044	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192331337	chr12:34833051-34833052	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs140765466	chr12:34833053-34833054	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs368361287	chr12:34833056-34833057	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs371210317	chr12:34833059-34833060	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138474751	chr12:34833067-34833068	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565793843	chr12:34833074-34833075	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs373859040	chr12:34833076-34833077	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200245812	chr12:34833078-34833079	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550926152	chr12:34833080-34833081	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368083060	chr12:34833087-34833088	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs113605716	chr12:34833092-34833093	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182067694	chr12:34833093-34833094	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs36167349	chr12:34833105-34833106	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs371138805	chr12:34833106-34833107	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs76737156	chr12:34833107-34833108	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111386405	chr12:34833112-34833113	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539531007	chr12:34833118-34833119	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148753663	chr12:34833129-34833130	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201407525	chr12:34833143-34833144	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs546831323	chr12:34833144-34833145	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566721033	chr12:34833152-34833153	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535998812	chr12:34833156-34833157	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs147860712	chr12:34833166-34833167	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs140211727	chr12:34833167-34833168	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143044918	chr12:34833168-34833169	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555792886	chr12:34833175-34833176	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575859558	chr12:34833176-34833177	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537465051	chr12:34833191-34833192	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs77882638	chr12:34833210-34833211	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557713553	chr12:34833219-34833220	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs10844983	chr12:34833222-34833223	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs149694833	chr12:34833223-34833224	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540319412	chr12:34833230-34833231	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554054606	chr12:34833232-34833233	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs75128961	chr12:34833235-34833236	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs371236941	chr12:34833255-34833256	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs77358876	chr12:34833262-34833263	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs77454994	chr12:34833264-34833265	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs374694609	chr12:34833265-34833266	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs367803985	chr12:34833273-34833274	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77823754	chr12:34833276-34833277	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542774902	chr12:34833277-34833278	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111698860	chr12:34833278-34833279	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372200149	chr12:34833282-34833283	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs200571379	chr12:34833292-34833293	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376842560	chr12:34833296-34833297	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs201768558	chr12:34833301-34833302	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	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:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34825400-34856400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr12:34825800-34855800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr12:34825800-34856400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:34830400-34839200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr12:34831600-34833800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr12:34831600-34855600	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr12:34831600-34855800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr12:34831800-34833200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:34832000-34833200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:34832000-34833600	ZNF genes & repeats	NH-A	brain
11	chr12:34832200-34833200	Weak transcription	Fetal Kidney	kidney
12	chr12:34832200-34833200	Weak transcription	HUVEC	blood vessel
13	chr12:34832200-34833200	Weak transcription	K562	blood
14	chr12:34832400-34833200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:34832400-34833200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:34832600-34833200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:34832600-34833800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:34832800-34833200	Active TSS	Aorta	Aorta
19	chr12:34832800-34833600	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr12:34832800-34834000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr12:34833000-34833800	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr12:34833000-34834200	ZNF genes & repeats	HepG2	liver
23	chr12:34833000-34834800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr12:34833000-34839200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:34833200-34833400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:34833200-34833400	ZNF genes & repeats	Aorta	Aorta
27	chr12:34833200-34833400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:34833200-34833400	Active TSS	Right Atrium	heart
29	chr12:34833200-34833400	Active TSS	NHLF	lung
30	chr12:34833200-34833600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:34833200-34833600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:34833200-34833600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:34833200-34833600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:34833200-34833600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:34833200-34833600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:34833200-34833600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:34833200-34833600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr12:34833200-34833600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:34833200-34833600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr12:34833200-34833600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:34833200-34833600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:34833200-34833600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
43	chr12:34833200-34833600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:34833200-34833600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:34833200-34833600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
46	chr12:34833200-34833600	ZNF genes & repeats	Brain Hippocampus Middle	brain
47	chr12:34833200-34833600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
48	chr12:34833200-34833600	ZNF genes & repeats	Colonic Mucosa	Colon
49	chr12:34833200-34833600	ZNF genes & repeats	Colon Smooth Muscle	Colon
50	chr12:34833200-34833600	ZNF genes & repeats	Fetal Heart	heart

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