Variant report

Variant	esv2423282
Chromosome Location	chr10:42529368-42529370
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:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:121482909..121485419-chr10:42527541..42532488,18	MCF-7	breast:
2	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
3	chr10:42528107..42529933-chr8:110778066..110779566,2	MCF-7	breast:
4	chr10:10531872..10532392-chr10:42529084..42529944,2	MCF-7	breast:
5	chr10:42528302..42530981-chr19:27731210..27733512,2	MCF-7	breast:
6	chr10:42529282..42529919-chr2:134391577..134392424,2	MCF-7	breast:
7	chr10:42529302..42529920-chr19:27734982..27735519,2	MCF-7	breast:
8	chr10:42396404..42399699-chr10:42528302..42530349,4	MCF-7	breast:
9	chr10:42528281..42529803-chr7:129794745..129796264,2	MCF-7	breast:
10	chr10:42527520..42529802-chr19:27732626..27735592,2	K562	blood:
11	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
12	chr10:42528102..42529921-chr12:34831375..34832895,2	K562	blood:
13	chr1:121483719..121484637-chr10:42529281..42529801,2	MCF-7	breast:
14	chr1:121482838..121485428-chr10:42528872..42531081,8	K562	blood:
15	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
16	chr10:42528736..42531443-chr2:73087371..73089045,2	MCF-7	breast:
17	chr10:42398850..42399800-chr10:42529302..42530219,2	MCF-7	breast:
18	chr10:42398850..42399487-chr10:42529302..42530228,2	MCF-7	breast:
19	chr1:121482910..121485426-chr10:42527270..42532610,10	MCF-7	breast:
20	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BMS1-10	chr10:42529283-42529832	NONHSAT012852
2	lnc-BMS1-10	chr10:42529283-42529832	FPKM1_group_3228_transcript_1

No data

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74207679	chr10:42529370-42529371	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:42525400-42533200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr10:42525800-42533600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr10:42526200-42531800	Weak transcription	NHEK	skin
4	chr10:42526800-42533000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr10:42527000-42530800	ZNF genes & repeats	HepG2	liver
6	chr10:42527000-42533000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr10:42527000-42533000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:42527000-42533000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
9	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:42527000-42533000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr10:42527000-42533000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr10:42527000-42533000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr10:42527000-42533000	ZNF genes & repeats	Liver	Liver
15	chr10:42527000-42533000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr10:42527000-42533000	ZNF genes & repeats	Fetal Brain Male	brain
17	chr10:42527000-42533000	ZNF genes & repeats	Fetal Intestine Large	intestine
18	chr10:42527000-42533000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr10:42527000-42533200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
20	chr10:42527000-42533200	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr10:42527000-42533200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:42527000-42533600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:42527200-42533000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr10:42527200-42533000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:42527200-42533000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:42527200-42533000	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr10:42527200-42533000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
28	chr10:42527200-42533000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
29	chr10:42527200-42533000	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr10:42527200-42533000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:42527200-42533000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
32	chr10:42527200-42533000	ZNF genes & repeats	Fetal Stomach	stomach
33	chr10:42527200-42533000	ZNF genes & repeats	Left Ventricle	heart
34	chr10:42527200-42533000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr10:42527200-42533000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr10:42527200-42533000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
37	chr10:42527200-42533400	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr10:42527200-42533600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr10:42528800-42533000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:42528800-42533000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
41	chr10:42528800-42533000	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr10:42528800-42533000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr10:42528800-42533000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
44	chr10:42528800-42533000	ZNF genes & repeats	Brain Substantia Nigra	brain
45	chr10:42528800-42533000	ZNF genes & repeats	Fetal Lung	lung
46	chr10:42528800-42533000	ZNF genes & repeats	A549	lung
47	chr10:42528800-42533000	ZNF genes & repeats	Dnd41	blood
48	chr10:42528800-42533000	ZNF genes & repeats	HMEC	breast
49	chr10:42528800-42533200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr10:42529000-42530200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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