Variant report

Variant	esv9450
Chromosome Location	chr10:42384063-42396912
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:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:42385202..42385933-chr7:149119111..149120081,2	MCF-7	breast:
2	chr1:115646794..115647295-chr10:42392648..42393148,2	MCF-7	breast:
3	chr10:42385424..42387506-chr16:88876940..88878642,2	MCF-7	breast:
4	chr10:42385048..42385927-chr20:45917973..45918793,2	MCF-7	breast:
5	chr10:42396677..42397179-chr2:92268827..92269338,2	MCF-7	breast:
6	chr10:42396404..42399699-chr10:42528302..42530349,4	MCF-7	breast:
7	chr10:42387171..42387692-chr16:33888891..33889406,2	MCF-7	breast:
8	chr10:42385049..42385862-chr2:89835873..89836374,2	MCF-7	breast:
9	chr10:42387191..42387693-chr16:34189725..34190226,2	MCF-7	breast:
10	chr10:42384702..42385548-chr19:46850298..46850828,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-12	chr10:42389851-42389943	NONHSAT012847
2	lnc-BMS1-11	chr10:42385001-42385282	NONHSAT012848
3	lnc-BMS1-12	chr10:42391195-42391205	NONHSAT012847
4	lnc-BMS1-12	chr10:42387203-42387475	NONHSAT012847

No data

Variant related genes	Relation type
ENSG00000011485	chromatin interactions
ENSG00000198931	chromatin interactions
ENSG00000261842	chromatin interactions

Extended variants
information (count: 4246 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:4246 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76327597	chr10:42384066-42384067	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2128921	chr10:42384067-42384068	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs74218705	chr10:42384069-42384070	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs77269199	chr10:42384074-42384075	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs78991975	chr10:42384079-42384080	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146762600	chr10:42384080-42384081	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79511421	chr10:42384081-42384082	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188708170	chr10:42384083-42384084	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs79432503	chr10:42384084-42384085	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561356572	chr10:42384085-42384086	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574944766	chr10:42384087-42384088	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543251954	chr10:42384088-42384089	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs74718769	chr10:42384090-42384091	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs77680627	chr10:42384093-42384094	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563467745	chr10:42384096-42384097	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs74389281	chr10:42384097-42384098	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs11812405	chr10:42384103-42384104	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs71502104	chr10:42384105-42384106	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372120221	chr10:42384114-42384115	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532340904	chr10:42384117-42384118	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74208248	chr10:42384120-42384121	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs552427940	chr10:42384122-42384123	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs78889263	chr10:42384123-42384124	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558971340	chr10:42384124-42384125	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs76366464	chr10:42384125-42384126	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs528069773	chr10:42384126-42384127	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs139933557	chr10:42384130-42384131	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs74214533	chr10:42384131-42384132	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs74209352	chr10:42384132-42384133	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142806542	chr10:42384136-42384137	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530600416	chr10:42384140-42384141	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs74194752	chr10:42384145-42384146	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs71502105	chr10:42384147-42384148	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139781587	chr10:42384148-42384149	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs74202862	chr10:42384150-42384151	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74220136	chr10:42384152-42384153	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs570215637	chr10:42384155-42384156	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs74214749	chr10:42384163-42384164	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs74317405	chr10:42384164-42384165	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs147910408	chr10:42384165-42384166	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs74957239	chr10:42384166-42384167	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs559290276	chr10:42384167-42384168	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs74203198	chr10:42384170-42384171	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566117890	chr10:42384171-42384172	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs535024877	chr10:42384175-42384176	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs61847683	chr10:42384177-42384178	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs554953133	chr10:42384179-42384180	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113431934	chr10:42384183-42384184	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574855456	chr10:42384185-42384186	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75458990	chr10:42384187-42384188	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20858243	CNVD
Obesity	20622171	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21781307	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42373600-42385200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr10:42373600-42385400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:42373600-42385600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:42373600-42385600	ZNF genes & repeats	Lung	lung
5	chr10:42373600-42385800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:42373600-42385800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
7	chr10:42373600-42385800	ZNF genes & repeats	Pancreas	Pancrea
8	chr10:42373600-42385800	ZNF genes & repeats	K562	blood
9	chr10:42373600-42386000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
10	chr10:42373600-42386000	ZNF genes & repeats	Aorta	Aorta
11	chr10:42373600-42387800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
12	chr10:42373600-42388200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr10:42373600-42388200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
14	chr10:42373600-42388200	ZNF genes & repeats	Placenta	Placenta
15	chr10:42373600-42388200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
16	chr10:42373600-42388400	ZNF genes & repeats	Spleen	Spleen
17	chr10:42373600-42388600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
18	chr10:42373600-42389400	ZNF genes & repeats	Stomach Mucosa	stomach
19	chr10:42373600-42397200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
20	chr10:42373600-42397200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr10:42373600-42397200	ZNF genes & repeats	HUVEC	blood vessel
22	chr10:42373600-42397400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
23	chr10:42373600-42399600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:42373600-42399600	ZNF genes & repeats	Fetal Kidney	kidney
25	chr10:42373600-42400800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr10:42373600-42400800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:42373600-42400800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:42373600-42400800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:42373600-42400800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr10:42373600-42400800	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr10:42373600-42400800	ZNF genes & repeats	Brain Angular Gyrus	brain
37	chr10:42373600-42400800	ZNF genes & repeats	Brain Anterior Caudate	brain
38	chr10:42373600-42400800	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr10:42373600-42400800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
40	chr10:42373600-42400800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
41	chr10:42373600-42400800	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr10:42373600-42400800	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr10:42373600-42400800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
44	chr10:42373600-42400800	ZNF genes & repeats	Fetal Heart	heart
45	chr10:42373600-42400800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr10:42373600-42400800	ZNF genes & repeats	Fetal Lung	lung
47	chr10:42373600-42400800	ZNF genes & repeats	Gastric	stomach
48	chr10:42373600-42400800	ZNF genes & repeats	Left Ventricle	heart
49	chr10:42373600-42400800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
50	chr10:42373600-42400800	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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