Variant report

Variant	nsv438167
Chromosome Location	chr10:28567807-28569959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:28568537-28568677	A549	lung:	n/a	n/a
2	CEBPB	chr10:28568482-28568666	K562	blood:	n/a	n/a
3	CEBPB	chr10:28568577-28568605	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr10:28569647-28569700	ProgFib	skin:	n/a	n/a
5	CTCF	chr10:28569640-28569790	AG04449	skin:	n/a	n/a
6	CTCF	chr10:28569614-28569726	Gliobla	brain:	n/a	n/a
7	CTCF	chr10:28569620-28569770	AG04449	skin:	n/a	n/a
8	CTCF	chr10:28569620-28569770	HBMEC	blood vessel:	n/a	n/a
9	MAFK	chr10:28569644-28569962	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28566640..28568804-chr10:28569342..28571331,2	MCF-7	breast:

Variant related genes	Relation type
MPP7	TF binding region
ENSG00000150054	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7905490	chr10:28567807-28567808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560332466	chr10:28567823-28567824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539052509	chr10:28567928-28567929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146711983	chr10:28567956-28567957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561231904	chr10:28567978-28567979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528924168	chr10:28567987-28567988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550303891	chr10:28568018-28568019	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568787497	chr10:28568031-28568032	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72803693	chr10:28568125-28568126	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551459571	chr10:28568170-28568171	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs36086160	chr10:28568223-28568224	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148876052	chr10:28568264-28568265	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188477120	chr10:28568322-28568323	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555732241	chr10:28568337-28568338	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs193078398	chr10:28568341-28568342	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538282604	chr10:28568366-28568367	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185034495	chr10:28568375-28568376	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11006981	chr10:28568378-28568379	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs143573022	chr10:28568383-28568384	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560195225	chr10:28568388-28568389	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188757687	chr10:28568424-28568425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11006982	chr10:28568429-28568430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530468640	chr10:28568453-28568454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561673097	chr10:28568455-28568456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181121679	chr10:28568507-28568508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550408639	chr10:28568516-28568517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs562358900	chr10:28568552-28568553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140897985	chr10:28568574-28568575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551528438	chr10:28568594-28568595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566554797	chr10:28568596-28568597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558895329	chr10:28568620-28568621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs7082263	chr10:28568625-28568626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549194907	chr10:28568627-28568628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375844084	chr10:28568642-28568643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376602164	chr10:28568649-28568650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567405695	chr10:28568682-28568683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183947739	chr10:28568697-28568698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556396696	chr10:28568699-28568700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs41406248	chr10:28568713-28568714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs547816347	chr10:28568741-28568742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538633613	chr10:28568784-28568785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs188275798	chr10:28568818-28568819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572206003	chr10:28568878-28568879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568011367	chr10:28568903-28568904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145738690	chr10:28568919-28568920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138672930	chr10:28568962-28568963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576544456	chr10:28568972-28568973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12357385	chr10:28568984-28568985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs182230144	chr10:28568985-28568986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142728900	chr10:28569056-28569057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28550400-28582600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr10:28553000-28570800	Weak transcription	Esophagus	oesophagus
3	chr10:28553200-28568400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr10:28553400-28569600	Weak transcription	Pancreas	Pancrea
5	chr10:28556200-28570800	Weak transcription	Primary B cells from cord blood	blood
6	chr10:28556400-28571000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr10:28557800-28568000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr10:28558200-28568200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr10:28559600-28570800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:28562600-28570800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:28564000-28573200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:28564200-28569400	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:28564200-28573200	Weak transcription	Primary T cells from cord blood	blood
14	chr10:28564400-28570800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr10:28564800-28570800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr10:28564800-28572800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr10:28564800-28573000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr10:28565000-28571000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr10:28565400-28568000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr10:28566200-28568000	Weak transcription	Psoas Muscle	Psoas
21	chr10:28566200-28571000	Weak transcription	HepG2	liver
22	chr10:28566400-28568000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr10:28566800-28573000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr10:28567800-28569200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:28567800-28570200	Enhancers	Fetal Heart	heart
26	chr10:28568000-28568200	Enhancers	Fetal Muscle Leg	muscle
27	chr10:28568000-28568400	Enhancers	Right Ventricle	heart
28	chr10:28568000-28568400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr10:28568000-28568400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr10:28568000-28569000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr10:28568000-28569200	Enhancers	Left Ventricle	heart
32	chr10:28568000-28569200	Enhancers	Psoas Muscle	Psoas
33	chr10:28568200-28568400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:28568200-28568800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr10:28568200-28570800	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:28568400-28568600	Enhancers	Stomach Smooth Muscle	stomach
37	chr10:28568400-28570600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr10:28568400-28570800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr10:28568400-28570800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr10:28568400-28573200	Weak transcription	Right Ventricle	heart
41	chr10:28568600-28569000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr10:28568800-28569200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:28568800-28569800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr10:28568800-28570400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr10:28568800-28570800	Enhancers	Osteobl	bone
46	chr10:28568800-28571200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:28568800-28571200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:28568800-28571400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr10:28569000-28571800	Enhancers	Stomach Smooth Muscle	stomach
50	chr10:28569000-28578400	Weak transcription	Monocytes-CD14+_RO01746	blood

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