Variant report

Variant	esv2968
Chromosome Location	chr10:42532610-42534103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:121482838..121485428-chr10:42529461..42532722,10	K562	blood:
2	chr1:121482910..121485426-chr10:42527270..42532610,10	MCF-7	breast:
3	chr10:42532093..42532747-chr2:154892410..154892910,2	MCF-7	breast:
4	chr10:42532112..42532613-chr19:27734969..27735848,2	MCF-7	breast:
5	chr1:121484711..121485401-chr10:42532112..42532774,3	MCF-7	breast:

Extended variants
information (count: 500 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:500 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553702367	chr10:42532610-42532611	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs71261399	chr10:42532611-42532612	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs74218780	chr10:42532612-42532613	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs61845442	chr10:42532614-42532615	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs77748199	chr10:42532617-42532618	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs377463459	chr10:42532619-42532620	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs61845443	chr10:42532621-42532622	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs4459381	chr10:42532623-42532624	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs542477622	chr10:42532627-42532628	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs398037980	chr10:42532630-42532631	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs71244526	chr10:42532631-42532632	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs368396824	chr10:42532632-42532633	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs78190970	chr10:42532634-42532635	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs75555686	chr10:42532635-42532636	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs71272855	chr10:42532636-42532637	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs76385849	chr10:42532638-42532639	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs71245743	chr10:42532639-42532640	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs370871334	chr10:42532641-42532642	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs544919727	chr10:42532645-42532646	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs564981278	chr10:42532646-42532647	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs79419340	chr10:42532648-42532649	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs527338697	chr10:42532651-42532652	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs547539091	chr10:42532654-42532655	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs76058045	chr10:42532655-42532656	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs374161118	chr10:42532657-42532658	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs529752308	chr10:42532658-42532659	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs549632304	chr10:42532660-42532661	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs368035554	chr10:42532661-42532662	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs78596944	chr10:42532667-42532668	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs551643862	chr10:42532668-42532669	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs371766627	chr10:42532670-42532671	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs67824816	chr10:42532672-42532673	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs571511907	chr10:42532676-42532677	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs373983988	chr10:42532677-42532678	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs74185432	chr10:42532679-42532680	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs36182114	chr10:42532680-42532681	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs573681872	chr10:42532681-42532682	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs536278002	chr10:42532684-42532685	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs71245742	chr10:42532685-42532686	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs80335112	chr10:42532690-42532691	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs74535070	chr10:42532691-42532692	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs576295721	chr10:42532692-42532693	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs74215930	chr10:42532694-42532695	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs577816052	chr10:42532696-42532697	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs564881782	chr10:42532698-42532699	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs77912457	chr10:42532699-42532700	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs572286981	chr10:42532700-42532701	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs541112910	chr10:42532701-42532702	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs75453852	chr10:42532703-42532704	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs560995877	chr10:42532706-42532707	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	n/a	n/a	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:209 , 50 per page) page: 1 2 3 4 5

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	chr10:42526800-42533000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr10:42527000-42533000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr10:42527000-42533000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:42527000-42533000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr10:42527000-42533000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:42527000-42533000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr10:42527000-42533000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr10:42527000-42533000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr10:42527000-42533000	ZNF genes & repeats	Liver	Liver
13	chr10:42527000-42533000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr10:42527000-42533000	ZNF genes & repeats	Fetal Brain Male	brain
15	chr10:42527000-42533000	ZNF genes & repeats	Fetal Intestine Large	intestine
16	chr10:42527000-42533000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
17	chr10:42527000-42533200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
18	chr10:42527000-42533200	ZNF genes & repeats	Primary T cells from cord blood	blood
19	chr10:42527000-42533200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:42527000-42533600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:42527200-42533000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
22	chr10:42527200-42533000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:42527200-42533000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:42527200-42533000	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr10:42527200-42533000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
26	chr10:42527200-42533000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr10:42527200-42533000	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr10:42527200-42533000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:42527200-42533000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr10:42527200-42533000	ZNF genes & repeats	Fetal Stomach	stomach
31	chr10:42527200-42533000	ZNF genes & repeats	Left Ventricle	heart
32	chr10:42527200-42533000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr10:42527200-42533000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
34	chr10:42527200-42533000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
35	chr10:42527200-42533400	ZNF genes & repeats	Psoas Muscle	Psoas
36	chr10:42527200-42533600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr10:42528800-42533000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:42528800-42533000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
39	chr10:42528800-42533000	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr10:42528800-42533000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
41	chr10:42528800-42533000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
42	chr10:42528800-42533000	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr10:42528800-42533000	ZNF genes & repeats	Fetal Lung	lung
44	chr10:42528800-42533000	ZNF genes & repeats	A549	lung
45	chr10:42528800-42533000	ZNF genes & repeats	Dnd41	blood
46	chr10:42528800-42533000	ZNF genes & repeats	HMEC	breast
47	chr10:42528800-42533200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr10:42529000-42533000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr10:42529000-42533000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr10:42529000-42533000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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