Variant report

Variant	esv5004
Chromosome Location	chr12:34838891-34855760
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	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
3	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
4	chr12:34844822..34846343-chr7:8071587..8073511,2	MCF-7	breast:
5	chr1:121483532..121485426-chr12:34844824..34846350,3	K562	blood:
6	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
7	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:

Extended variants
information (count: 3047 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:3047 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78211089	chr12:34838892-34838893	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs546855129	chr12:34838893-34838894	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs76284587	chr12:34838896-34838897	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186383880	chr12:34838913-34838914	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs79741353	chr12:34838915-34838916	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs199750422	chr12:34838918-34838919	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs75566626	chr12:34838921-34838922	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs76694053	chr12:34838923-34838924	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs79913448	chr12:34838925-34838926	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs79373683	chr12:34838931-34838932	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77032228	chr12:34838933-34838934	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76502023	chr12:34838935-34838936	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560871665	chr12:34838940-34838941	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs78697436	chr12:34838944-34838945	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74895695	chr12:34838947-34838948	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76973905	chr12:34838957-34838958	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs77204778	chr12:34838959-34838960	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs79194788	chr12:34838960-34838961	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568876127	chr12:34838961-34838962	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs75166583	chr12:34838965-34838966	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs35251453	chr12:34838968-34838969	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs367973720	chr12:34838971-34838972	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551470808	chr12:34838972-34838973	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs77521908	chr12:34838977-34838978	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185906793	chr12:34838986-34838987	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373722978	chr12:34838993-34838994	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs61933918	chr12:34838994-34838995	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571227111	chr12:34838998-34838999	ZNF genes & repeats Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs191444976	chr12:34839001-34839002	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77634438	chr12:34839008-34839009	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76493466	chr12:34839012-34839013	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201949056	chr12:34839013-34839014	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74568418	chr12:34839017-34839018	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61933919	chr12:34839028-34839029	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61933920	chr12:34839032-34839033	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77117701	chr12:34839036-34839037	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78343760	chr12:34839037-34839038	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372116052	chr12:34839040-34839041	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553670783	chr12:34839043-34839044	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567269337	chr12:34839067-34839068	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536144134	chr12:34839070-34839071	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11053466	chr12:34839073-34839074	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575251187	chr12:34839078-34839079	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535607740	chr12:34839079-34839080	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140668245	chr12:34839082-34839083	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61933921	chr12:34839102-34839103	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186264421	chr12:34839103-34839104	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557144285	chr12:34839105-34839106	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190688091	chr12:34839107-34839108	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372732245	chr12:34839117-34839118	ZNF genes & repeats Enhancers Weak transcription	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:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr12:34831600-34855600	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr12:34831600-34855800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr12:34833000-34839200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:34833600-34839600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:34833600-34841400	Weak transcription	Right Ventricle	heart
10	chr12:34835400-34840200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr12:34836200-34840400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr12:34836800-34839800	ZNF genes & repeats	Fetal Brain Male	brain
13	chr12:34836800-34842000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:34837000-34839600	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr12:34837200-34839000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr12:34837200-34839400	ZNF genes & repeats	HMEC	breast
17	chr12:34837400-34839000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr12:34837400-34839600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:34837400-34839600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:34837400-34840200	ZNF genes & repeats	Liver	Liver
21	chr12:34837400-34841400	Weak transcription	NHEK	skin
22	chr12:34837800-34841400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:34837800-34841400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:34837800-34841400	Weak transcription	Esophagus	oesophagus
25	chr12:34837800-34841400	Weak transcription	Placenta	Placenta
26	chr12:34837800-34841400	Weak transcription	Fetal Thymus	thymus
27	chr12:34837800-34841400	Weak transcription	Ovary	ovary
28	chr12:34837800-34841400	Weak transcription	Right Atrium	heart
29	chr12:34837800-34841400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:34837800-34841400	Weak transcription	Thymus	Thymus
31	chr12:34837800-34841400	Weak transcription	K562	blood
32	chr12:34837800-34841400	Weak transcription	NHDF-Ad	bronchial
33	chr12:34837800-34841400	Weak transcription	Osteobl	bone
34	chr12:34838000-34839800	Weak transcription	HUVEC	blood vessel
35	chr12:34838000-34841400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr12:34838000-34841400	Weak transcription	Aorta	Aorta
37	chr12:34838000-34841400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:34838000-34841400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:34838600-34839200	ZNF genes & repeats	GM12878-XiMat	blood
40	chr12:34838600-34841400	Weak transcription	Gastric	stomach
41	chr12:34838800-34839000	Active TSS	NH-A	brain
42	chr12:34838800-34839400	Weak transcription	Psoas Muscle	Psoas
43	chr12:34839000-34839200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:34839200-34839400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:34839400-34839800	Active TSS	Psoas Muscle	Psoas
46	chr12:34839400-34841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:34839600-34840000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:34839800-34841000	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:34839800-34841400	Weak transcription	Psoas Muscle	Psoas
50	chr12:34840000-34841400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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