Variant report

Variant	nsv558485
Chromosome Location	chr12:38008984-38258137
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	chr12:38032931..38033431-chr6:58776879..58777388,2	MCF-7	breast:
2	chr12:38143553..38144054-chr18:18519761..18520264,2	MCF-7	breast:
3	chr12:38092578..38093097-chr2:92306640..92307159,2	MCF-7	breast:
4	chr12:38032912..38033432-chr6:58774035..58775015,2	MCF-7	breast:
5	chr12:38038013..38039001-chr3:156392284..156392894,2	MCF-7	breast:
6	chr11:48862246..48863766-chr12:38036979..38038502,2	MCF-7	breast:
7	chr12:38062177..38062716-chr12:38709963..38710509,2	MCF-7	breast:
8	chr12:38031932..38033432-chr6:58775709..58777615,2	MCF-7	breast:
9	chr12:38031911..38033432-chr6:58776341..58779018,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175548	chromatin interactions
ENSG00000163659	chromatin interactions

Extended variants
information (count: 23162 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:23162 , 50 per page) page: 1 2 3 4 5 6 7 ... 464

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12306786	chr12:38008984-38008985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113966907	chr12:38008988-38008989	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76015169	chr12:38008995-38008996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11170237	chr12:38008998-38008999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113083195	chr12:38009001-38009002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75607080	chr12:38009002-38009003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202187256	chr12:38009005-38009006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76785439	chr12:38009008-38009009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79023755	chr12:38009009-38009010	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77282665	chr12:38009010-38009011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78856082	chr12:38009012-38009013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78120779	chr12:38009013-38009014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77036701	chr12:38009016-38009017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74733413	chr12:38009031-38009032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75494145	chr12:38009033-38009034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75211645	chr12:38009035-38009036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75632878	chr12:38009038-38009039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77600966	chr12:38009041-38009042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61899062	chr12:38009043-38009044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12366552	chr12:38009047-38009048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12368886	chr12:38009048-38009049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76556365	chr12:38009050-38009051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78645169	chr12:38009054-38009055	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12367797	chr12:38009057-38009058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78238596	chr12:38009058-38009059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12368497	chr12:38009059-38009060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79653573	chr12:38009061-38009062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111912038	chr12:38009063-38009064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61922079	chr12:38009066-38009067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539269434	chr12:38009071-38009072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12367799	chr12:38009072-38009073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74652087	chr12:38009073-38009074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12367801	chr12:38009081-38009082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12823444	chr12:38009082-38009083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576105961	chr12:38009086-38009087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71459569	chr12:38009088-38009089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192899125	chr12:38009094-38009095	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201108594	chr12:38009103-38009104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12832376	chr12:38009104-38009105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12823607	chr12:38009120-38009121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199737196	chr12:38009121-38009122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182761980	chr12:38009132-38009133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200345886	chr12:38009135-38009136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12832430	chr12:38009136-38009137	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12823623	chr12:38009137-38009138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs36131320	chr12:38009147-38009148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113504776	chr12:38009150-38009151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1662482	chr12:38009151-38009152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201317336	chr12:38009153-38009154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199641789	chr12:38009155-38009156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
Ewing''s sarcoma	21437220	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
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20858243	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Osteosarcoma	21215367	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD

Chromatin state (count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:37989800-38041200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr12:37990000-38040800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr12:37990400-38014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:38003800-38009600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr12:38005800-38010800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr12:38006000-38010800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:38006800-38009400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr12:38006800-38009400	ZNF genes & repeats	Liver	Liver
9	chr12:38007000-38009000	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr12:38007800-38009200	ZNF genes & repeats	HepG2	liver
11	chr12:38008000-38009400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr12:38008200-38009400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr12:38008400-38009000	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr12:38008400-38009200	ZNF genes & repeats	Dnd41	blood
15	chr12:38008400-38009400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:38008400-38009400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
17	chr12:38008400-38009400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
18	chr12:38008400-38009400	ZNF genes & repeats	Brain Hippocampus Middle	brain
19	chr12:38008400-38009400	ZNF genes & repeats	Brain Substantia Nigra	brain
20	chr12:38008400-38009400	ZNF genes & repeats	Fetal Heart	heart
21	chr12:38008400-38009400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr12:38008400-38009400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
23	chr12:38008400-38009400	ZNF genes & repeats	Small Intestine	intestine
24	chr12:38008400-38009400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr12:38008400-38009600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:38008400-38009600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:38008400-38009600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr12:38008400-38009600	ZNF genes & repeats	Left Ventricle	heart
29	chr12:38008600-38009600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr12:38008800-38009400	Weak transcription	Osteobl	bone
31	chr12:38008800-38013600	Weak transcription	Psoas Muscle	Psoas
32	chr12:38008800-38013600	Weak transcription	NH-A	brain
33	chr12:38008800-38016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:38009000-38009400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:38009000-38009400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
36	chr12:38009000-38009600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:38009200-38009400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:38009200-38009400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
39	chr12:38009200-38009400	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr12:38009200-38009400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
41	chr12:38009200-38009400	ZNF genes & repeats	GM12878-XiMat	blood
42	chr12:38009200-38009400	ZNF genes & repeats	HUVEC	blood vessel
43	chr12:38009400-38011600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:38009400-38011600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:38009400-38016200	Weak transcription	Small Intestine	intestine
46	chr12:38010200-38010600	ZNF genes & repeats	HUVEC	blood vessel
47	chr12:38010400-38010600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr12:38010400-38011000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:38010600-38011600	Weak transcription	HUVEC	blood vessel
50	chr12:38011200-38014800	ZNF genes & repeats	HepG2	liver

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