Variant report

Variant	esv3407267
Chromosome Location	chr10:42531440-42531953
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	chr1:121482838..121485428-chr10:42529461..42532722,10	K562	blood:
2	chr10:42530427..42532590-chr8:46977725..46979226,2	MCF-7	breast:
3	chr1:121482909..121485419-chr10:42527541..42532488,18	MCF-7	breast:
4	chr10:42528736..42531443-chr2:73087371..73089045,2	MCF-7	breast:
5	chr1:224620434..224622448-chr10:42530903..42532481,2	MCF-7	breast:
6	chr10:42531427..42532425-chr11:19922614..19923134,2	MCF-7	breast:
7	chr1:121482910..121485426-chr10:42527270..42532610,10	MCF-7	breast:
8	chr10:42530906..42532591-chr12:125398363..125400597,2	MCF-7	breast:
9	chr10:42531904..42532590-chr13:98148609..98149589,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162923	chromatin interactions
ENSG00000150991	chromatin interactions
ENSG00000143786	chromatin interactions
ENSG00000265345	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544864849	chr10:42531441-42531442	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs71248716	chr10:42531444-42531445	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs578073404	chr10:42531445-42531446	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs77662298	chr10:42531450-42531451	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs75199989	chr10:42531455-42531456	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs540385196	chr10:42531458-42531459	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs112526183	chr10:42531461-42531462	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs78399085	chr10:42531470-42531471	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs61845411	chr10:42531471-42531472	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs201504009	chr10:42531479-42531480	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs529254189	chr10:42531480-42531481	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs71529059	chr10:42531484-42531485	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs149190264	chr10:42531487-42531488	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs200672967	chr10:42531488-42531489	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs548825116	chr10:42531491-42531492	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs61845413	chr10:42531495-42531496	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs77803057	chr10:42531500-42531501	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs199659896	chr10:42531501-42531502	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs562484516	chr10:42531506-42531507	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs77682554	chr10:42531507-42531508	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs531400326	chr10:42531509-42531510	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs551582585	chr10:42531513-42531514	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs200789019	chr10:42531516-42531517	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs61845414	chr10:42531525-42531526	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs61845415	chr10:42531529-42531530	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs200842119	chr10:42531530-42531531	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs527348382	chr10:42531534-42531535	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs201684681	chr10:42531537-42531538	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs199976737	chr10:42531538-42531539	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs567226997	chr10:42531543-42531544	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs536290936	chr10:42531544-42531545	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs113263316	chr10:42531545-42531546	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs61845416	chr10:42531557-42531558	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs79070451	chr10:42531559-42531560	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs569597807	chr10:42531563-42531564	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs61845417	chr10:42531572-42531573	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs558296342	chr10:42531577-42531578	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs578125316	chr10:42531579-42531580	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs371442315	chr10:42531581-42531582	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs548319801	chr10:42531584-42531585	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs372538788	chr10:42531589-42531590	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs540674898	chr10:42531592-42531593	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs61845418	chr10:42531596-42531597	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs568529763	chr10:42531601-42531602	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs573689752	chr10:42531604-42531605	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs376556707	chr10:42531607-42531608	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs531018611	chr10:42531609-42531610	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs562421517	chr10:42531610-42531611	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs372464072	chr10:42531611-42531612	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs141902011	chr10:42531612-42531613	ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:139 , 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	chr10:42527000-42533000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr10:42527000-42533000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:42527000-42533000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:42527000-42533000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr10:42527000-42533000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr10:42527000-42533000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr10:42527000-42533000	ZNF genes & repeats	Liver	Liver
14	chr10:42527000-42533000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr10:42527000-42533000	ZNF genes & repeats	Fetal Brain Male	brain
16	chr10:42527000-42533000	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr10:42527000-42533000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
18	chr10:42527000-42533200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
19	chr10:42527000-42533200	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr10:42527000-42533200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:42527000-42533600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:42527200-42533000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
23	chr10:42527200-42533000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:42527200-42533000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:42527200-42533000	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr10:42527200-42533000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
27	chr10:42527200-42533000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr10:42527200-42533000	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr10:42527200-42533000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:42527200-42533000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr10:42527200-42533000	ZNF genes & repeats	Fetal Stomach	stomach
32	chr10:42527200-42533000	ZNF genes & repeats	Left Ventricle	heart
33	chr10:42527200-42533000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
34	chr10:42527200-42533000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
35	chr10:42527200-42533000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
36	chr10:42527200-42533400	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr10:42527200-42533600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr10:42528800-42533000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:42528800-42533000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
40	chr10:42528800-42533000	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr10:42528800-42533000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
42	chr10:42528800-42533000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
43	chr10:42528800-42533000	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr10:42528800-42533000	ZNF genes & repeats	Fetal Lung	lung
45	chr10:42528800-42533000	ZNF genes & repeats	A549	lung
46	chr10:42528800-42533000	ZNF genes & repeats	Dnd41	blood
47	chr10:42528800-42533000	ZNF genes & repeats	HMEC	breast
48	chr10:42528800-42533200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr10:42529000-42533000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr10:42529000-42533000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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