Variant report

Variant	nsv966746
Chromosome Location	chr7:2781545-2797621
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2788942..2791836-chr7:2793364..2795418,2	MCF-7	breast:
2	chr7:2725821..2728860-chr7:2795958..2798636,3	MCF-7	breast:
3	chr7:2772721..2775716-chr7:2791855..2793482,2	K562	blood:
4	chr7:2788942..2791836-chr7:2793364..2795418,2	MCF-7	breast:
5	chr7:2795268..2798027-chr7:2834691..2837534,2	MCF-7	breast:
6	chr7:2796001..2798506-chr7:2858838..2860975,2	MCF-7	breast:
7	chr7:2790104..2792525-chr7:2796033..2798907,2	K562	blood:
8	chr7:2790104..2792525-chr7:2796033..2798907,2	K562	blood:
9	chr7:2796622..2799533-chr7:2800643..2803648,3	K562	blood:
10	chr7:2796509..2799619-chr7:2800643..2805239,7	K562	blood:
11	chr7:2795602..2798449-chr7:2895895..2897670,2	MCF-7	breast:
12	chr7:2772073..2775942-chr7:2781505..2783799,3	K562	blood:
13	chr7:2788053..2792290-chr7:2793052..2798708,8	K562	blood:
14	chr7:2794522..2796441-chr7:2912827..2915695,3	MCF-7	breast:
15	chr7:2791509..2794960-chr7:2795693..2799845,4	MCF-7	breast:
16	chr7:2770824..2773530-chr7:2796217..2798133,2	K562	blood:
17	chr7:2755108..2759929-chr7:2796424..2799629,5	K562	blood:
18	chr7:2796044..2799256-chr7:2882341..2885825,4	K562	blood:
19	chr7:2794604..2796344-chr7:2797942..2800672,2	MCF-7	breast:
20	chr7:2755108..2758694-chr7:2796336..2799311,5	K562	blood:
21	chr7:2793932..2796644-chr7:2849190..2850814,2	MCF-7	breast:
22	chr7:2726208..2729496-chr7:2795829..2800431,6	MCF-7	breast:
23	chr7:2796032..2797990-chr7:2809805..2811746,2	K562	blood:
24	chr7:2777523..2779993-chr7:2788582..2791308,2	MCF-7	breast:
25	chr7:2793193..2795230-chr7:2796231..2799768,5	K562	blood:
26	chr7:2791509..2794960-chr7:2795693..2799845,4	MCF-7	breast:
27	chr7:2788053..2792290-chr7:2793052..2798708,8	K562	blood:
28	chr7:2795883..2797584-chr7:2821948..2824040,2	K562	blood:
29	chr7:2795941..2797705-chr7:2869093..2871326,2	K562	blood:
30	chr20:60639339..60641070-chr7:2796081..2797652,2	MCF-7	breast:
31	chr7:2773516..2775458-chr7:2797228..2798920,2	MCF-7	breast:
32	chr7:2790103..2793093-chr7:2798943..2803164,4	K562	blood:
33	chr7:2559472..2562107-chr7:2794956..2796961,2	MCF-7	breast:
34	chr7:2795660..2798637-chr7:2882064..2885301,4	MCF-7	breast:
35	chr7:2793193..2795230-chr7:2796231..2799768,5	K562	blood:
36	chr3:79498621..79499392-chr7:2795028..2795705,2	MCF-7	breast:
37	chr7:2797400..2800902-chr7:2803018..2805102,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106003	chromatin interactions
ENSG00000146535	chromatin interactions
ENSG00000174945	chromatin interactions
ENSG00000130699	chromatin interactions
ENSG00000265306	chromatin interactions

Extended variants
information (count: 853 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:853 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77947632	chr7:2781556-2781557	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572183752	chr7:2781560-2781561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371145899	chr7:2781561-2781562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4722030	chr7:2781682-2781683	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188321798	chr7:2781683-2781684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543995918	chr7:2781693-2781694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563786324	chr7:2781708-2781709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532863744	chr7:2781716-2781717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545795471	chr7:2781725-2781726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559427941	chr7:2781732-2781733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548136323	chr7:2781742-2781743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148032113	chr7:2781768-2781769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192400232	chr7:2781780-2781781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185766553	chr7:2781781-2781782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550768062	chr7:2781798-2781799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189841275	chr7:2781799-2781800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141758925	chr7:2781812-2781813	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182008105	chr7:2781814-2781815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75337540	chr7:2781844-2781845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565776578	chr7:2781868-2781869	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs798514	chr7:2781892-2781893	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs537869853	chr7:2781893-2781894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554594651	chr7:2781896-2781897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574883363	chr7:2781919-2781920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543615233	chr7:2781925-2781926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11770070	chr7:2781958-2781959	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112444287	chr7:2781970-2781971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556144115	chr7:2781986-2781987	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114285252	chr7:2781987-2781988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559390912	chr7:2781998-2781999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572830082	chr7:2782001-2782002	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139933446	chr7:2782005-2782006	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561594738	chr7:2782047-2782048	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574466234	chr7:2782061-2782062	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145464873	chr7:2782083-2782084	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188659279	chr7:2782101-2782102	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564338758	chr7:2782108-2782109	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73285338	chr7:2782113-2782114	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145098061	chr7:2782114-2782115	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546533550	chr7:2782116-2782117	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566430982	chr7:2782120-2782121	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147237671	chr7:2782150-2782151	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs208353	chr7:2782152-2782153	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181403818	chr7:2782157-2782158	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537587990	chr7:2782169-2782170	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557265927	chr7:2782183-2782184	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375910260	chr7:2782184-2782185	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546124260	chr7:2782188-2782189	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185257378	chr7:2782190-2782191	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11767743	chr7:2782209-2782210	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute myeloid leukemia	19651601	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	17160897	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
3	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:2771200-2782200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:2771200-2783200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:2771200-2796200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:2771400-2782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:2771400-2785000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:2771400-2796200	Weak transcription	NHEK	skin
10	chr7:2771600-2781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:2772800-2783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:2773200-2782400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:2773200-2783200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:2773200-2796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:2773200-2796400	Weak transcription	NH-A	brain
16	chr7:2773200-2797000	Weak transcription	Pancreas	Pancrea
17	chr7:2773600-2796400	Weak transcription	Osteobl	bone
18	chr7:2775000-2781600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:2775200-2783200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:2775200-2783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:2775200-2790600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:2775200-2791600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:2775200-2796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:2775400-2782000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:2775400-2789800	Weak transcription	Ovary	ovary
26	chr7:2775400-2790000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:2775400-2797400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:2775400-2801200	Weak transcription	Primary T cells from cord blood	blood
29	chr7:2775600-2782400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:2775800-2796400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:2775800-2796400	Weak transcription	HSMM	muscle
32	chr7:2776200-2782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:2776200-2797000	Weak transcription	Spleen	Spleen
34	chr7:2776400-2783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:2776600-2784000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:2776800-2782000	Weak transcription	Fetal Heart	heart
37	chr7:2776800-2782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:2776800-2783200	Weak transcription	Fetal Intestine Large	intestine
39	chr7:2776800-2793600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:2776800-2796200	Weak transcription	HepG2	liver
41	chr7:2777600-2796200	Weak transcription	Dnd41	blood
42	chr7:2778200-2782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:2778200-2796400	Weak transcription	Psoas Muscle	Psoas
44	chr7:2778600-2781600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:2778600-2790800	Weak transcription	Adipose Nuclei	Adipose
46	chr7:2778600-2794800	Weak transcription	Primary B cells from cord blood	blood
47	chr7:2778600-2796200	Weak transcription	Fetal Lung	lung
48	chr7:2778600-2796400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr7:2778800-2782000	Weak transcription	Left Ventricle	heart
50	chr7:2778800-2782000	Weak transcription	Lung	lung

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