Variant report

Variant	esv5485
Chromosome Location	chr10:42386351-42397176
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:115646794..115647295-chr10:42392648..42393148,2	MCF-7	breast:
2	chr10:42387191..42387693-chr16:34189725..34190226,2	MCF-7	breast:
3	chr10:42385424..42387506-chr16:88876940..88878642,2	MCF-7	breast:
4	chr10:42387171..42387692-chr16:33888891..33889406,2	MCF-7	breast:
5	chr10:42396404..42399699-chr10:42528302..42530349,4	MCF-7	breast:
6	chr10:42396677..42397179-chr2:92268827..92269338,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000198931	chromatin interactions

Extended variants
information (count: 3457 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3457 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569194424	chr10:42386354-42386355	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs61847724	chr10:42386355-42386356	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142520734	chr10:42386362-42386363	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150499977	chr10:42386365-42386366	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371430432	chr10:42386368-42386369	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374596070	chr10:42386369-42386370	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538102337	chr10:42386375-42386376	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377638618	chr10:42386377-42386378	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551426499	chr10:42386381-42386382	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79433361	chr10:42386386-42386387	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74625710	chr10:42386390-42386391	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs113232423	chr10:42386401-42386402	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs61847725	chr10:42386407-42386408	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533915794	chr10:42386408-42386409	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142053540	chr10:42386411-42386412	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs77302788	chr10:42386412-42386413	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61847726	chr10:42386413-42386414	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573637363	chr10:42386414-42386415	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535694608	chr10:42386422-42386423	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555896925	chr10:42386423-42386424	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575568538	chr10:42386428-42386429	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs74494447	chr10:42386433-42386434	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74212869	chr10:42386437-42386438	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78376078	chr10:42386438-42386439	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs28859916	chr10:42386439-42386440	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146695130	chr10:42386440-42386441	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564184422	chr10:42386449-42386450	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs199928673	chr10:42386460-42386461	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs398096901	chr10:42386461-42386462	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577603598	chr10:42386465-42386466	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74797717	chr10:42386466-42386467	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs560386846	chr10:42386475-42386476	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140687417	chr10:42386476-42386477	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529360117	chr10:42386483-42386484	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548920662	chr10:42386492-42386493	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74849072	chr10:42386503-42386504	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs71191766	chr10:42386504-42386505	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550976476	chr10:42386511-42386512	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs71502108	chr10:42386517-42386518	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61847727	chr10:42386521-42386522	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562656714	chr10:42386530-42386531	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531686049	chr10:42386532-42386533	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149211007	chr10:42386534-42386535	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551693218	chr10:42386543-42386544	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571526799	chr10:42386549-42386550	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143246548	chr10:42386555-42386556	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555162095	chr10:42386556-42386557	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547343518	chr10:42386557-42386558	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564107223	chr10:42386558-42386559	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111470176	chr10:42386561-42386562	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	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:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42373600-42387800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
2	chr10:42373600-42388200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
3	chr10:42373600-42388200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
4	chr10:42373600-42388200	ZNF genes & repeats	Placenta	Placenta
5	chr10:42373600-42388200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
6	chr10:42373600-42388400	ZNF genes & repeats	Spleen	Spleen
7	chr10:42373600-42388600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
8	chr10:42373600-42389400	ZNF genes & repeats	Stomach Mucosa	stomach
9	chr10:42373600-42397200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
10	chr10:42373600-42397200	ZNF genes & repeats	GM12878-XiMat	blood
11	chr10:42373600-42397200	ZNF genes & repeats	HUVEC	blood vessel
12	chr10:42373600-42397400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
13	chr10:42373600-42399600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:42373600-42399600	ZNF genes & repeats	Fetal Kidney	kidney
15	chr10:42373600-42400800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr10:42373600-42400800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:42373600-42400800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr10:42373600-42400800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:42373600-42400800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
22	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:42373600-42400800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr10:42373600-42400800	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr10:42373600-42400800	ZNF genes & repeats	Brain Angular Gyrus	brain
27	chr10:42373600-42400800	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr10:42373600-42400800	ZNF genes & repeats	Brain Hippocampus Middle	brain
29	chr10:42373600-42400800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
30	chr10:42373600-42400800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:42373600-42400800	ZNF genes & repeats	Brain Substantia Nigra	brain
32	chr10:42373600-42400800	ZNF genes & repeats	Colon Smooth Muscle	Colon
33	chr10:42373600-42400800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr10:42373600-42400800	ZNF genes & repeats	Fetal Heart	heart
35	chr10:42373600-42400800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr10:42373600-42400800	ZNF genes & repeats	Fetal Lung	lung
37	chr10:42373600-42400800	ZNF genes & repeats	Gastric	stomach
38	chr10:42373600-42400800	ZNF genes & repeats	Left Ventricle	heart
39	chr10:42373600-42400800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
40	chr10:42373600-42400800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
41	chr10:42373600-42400800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
42	chr10:42373600-42400800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
43	chr10:42373600-42400800	ZNF genes & repeats	Dnd41	blood
44	chr10:42373600-42400800	ZNF genes & repeats	HMEC	breast
45	chr10:42373600-42400800	ZNF genes & repeats	HSMMtube	muscle
46	chr10:42373600-42400800	ZNF genes & repeats	NH-A	brain
47	chr10:42373600-42401200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
48	chr10:42373600-42402200	ZNF genes & repeats	Colonic Mucosa	Colon
49	chr10:42373600-42402400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
50	chr10:42373600-42402400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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