Variant report

Variant	esv6335
Chromosome Location	chr10:42532431-42534768
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:0)
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	chr10:42532112..42532613-chr19:27734969..27735848,2	MCF-7	breast:
2	chr1:121482838..121485428-chr10:42529461..42532722,10	K562	blood:
3	chr10:42530906..42532591-chr12:125398363..125400597,2	MCF-7	breast:
4	chr1:224620434..224622448-chr10:42530903..42532481,2	MCF-7	breast:
5	chr10:42530427..42532590-chr8:46977725..46979226,2	MCF-7	breast:
6	chr1:121484711..121485401-chr10:42532112..42532774,3	MCF-7	breast:
7	chr10:42532093..42532747-chr2:154892410..154892910,2	MCF-7	breast:
8	chr10:42531904..42532590-chr13:98148609..98149589,2	MCF-7	breast:
9	chr1:121482909..121485419-chr10:42527541..42532488,18	MCF-7	breast:
10	chr1:121482910..121485426-chr10:42527270..42532610,10	MCF-7	breast:

No data

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

Extended variants
information (count: 751 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76869272	chr10:42532432-42532433	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs77253832	chr10:42532434-42532435	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs201894207	chr10:42532436-42532437	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs11266042	chr10:42532437-42532438	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs553678827	chr10:42532441-42532442	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs567214726	chr10:42532442-42532443	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs377578039	chr10:42532443-42532444	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs555952976	chr10:42532445-42532446	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs575774172	chr10:42532449-42532450	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs544660581	chr10:42532450-42532451	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs75025316	chr10:42532452-42532453	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs80216613	chr10:42532453-42532454	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs577948737	chr10:42532460-42532461	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs369057744	chr10:42532466-42532467	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs71226863	chr10:42532468-42532469	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs71476308	chr10:42532471-42532472	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs560006305	chr10:42532473-42532474	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs529112466	chr10:42532476-42532477	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs373256233	chr10:42532477-42532478	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs562675631	chr10:42532478-42532479	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs74367621	chr10:42532482-42532483	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs77539520	chr10:42532486-42532487	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs77571704	chr10:42532487-42532488	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs76965326	chr10:42532488-42532489	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs61845439	chr10:42532490-42532491	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs74206928	chr10:42532494-42532495	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs71242850	chr10:42532497-42532498	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs71272137	chr10:42532498-42532499	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571279796	chr10:42532500-42532501	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74934263	chr10:42532504-42532505	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs61845440	chr10:42532523-42532524	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375622098	chr10:42532530-42532531	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs78110374	chr10:42532540-42532541	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs74197519	chr10:42532543-42532544	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527274045	chr10:42532544-42532545	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs71225623	chr10:42532547-42532548	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs74205904	chr10:42532549-42532550	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78160171	chr10:42532550-42532551	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs547453770	chr10:42532552-42532553	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs61845441	chr10:42532555-42532556	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs74206686	chr10:42532561-42532562	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555804863	chr10:42532562-42532563	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569420426	chr10:42532566-42532567	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs71268783	chr10:42532567-42532568	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs74192927	chr10:42532568-42532569	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201865782	chr10:42532575-42532576	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs67361230	chr10:42532576-42532577	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs377476608	chr10:42532577-42532578	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370377625	chr10:42532578-42532579	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs76020349	chr10:42532581-42532582	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:324 , 50 per page) page: 1 2 3 4 5 6 7

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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