Variant report

Variant	nsv1031019
Chromosome Location	chr7:16377519-16458474
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:73)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:16431599..16434211-chr7:16436454..16438200,2	K562	blood:
2	chr7:16456961..16459582-chr7:16459937..16461767,2	MCF-7	breast:
3	chr7:16304973..16307091-chr7:16435445..16437043,2	K562	blood:
4	chr7:16433382..16436329-chr7:16629318..16633087,3	K562	blood:
5	chr7:16456001..16461931-chr7:16682283..16687700,6	K562	blood:
6	chr7:16447322..16450777-chr7:16450983..16453871,4	K562	blood:
7	chr7:16427338..16429420-chr7:16432571..16434518,2	K562	blood:
8	chr7:16423939..16426216-chr7:16434967..16437061,2	K562	blood:
9	chr7:16374992..16378303-chr7:16378786..16381334,3	K562	blood:
10	chr7:16402008..16404238-chr7:16406373..16408242,2	K562	blood:
11	chr7:16451377..16453700-chr7:16455359..16457041,2	MCF-7	breast:
12	chr7:16423814..16426314-chr7:16443888..16446431,2	K562	blood:
13	chr7:16438588..16440667-chr7:16440672..16442750,2	K562	blood:
14	chr7:16394955..16400745-chr7:16401367..16408404,9	K562	blood:
15	chr7:16427726..16430162-chr7:16435410..16438091,2	MCF-7	breast:
16	chr7:16424852..16427430-chr7:16453245..16455678,2	K562	blood:
17	chr7:16404045..16407640-chr7:16460095..16463015,3	MCF-7	breast:
18	chr7:16430248..16433925-chr7:16458867..16461706,3	MCF-7	breast:
19	chr7:16439058..16440964-chr7:16460442..16462203,2	MCF-7	breast:
20	chr7:16443928..16446056-chr7:16453024..16455999,2	K562	blood:
21	chr7:16430102..16432686-chr7:16459442..16462077,2	MCF-7	breast:
22	chr7:16455152..16459514-chr7:16459744..16463250,7	MCF-7	breast:
23	chr7:16441360..16443090-chr7:16448119..16450606,2	K562	blood:
24	chr7:16374992..16378303-chr7:16378786..16381334,3	K562	blood:
25	chr7:16302978..16309646-chr7:16456908..16462647,13	K562	blood:
26	chr7:16406566..16408387-chr7:16416040..16418438,2	K562	blood:
27	chr7:16427726..16430162-chr7:16435410..16438091,2	MCF-7	breast:
28	chr7:16394955..16400745-chr7:16401367..16408404,9	K562	blood:
29	chr7:16448885..16451156-chr7:16453310..16455004,2	MCF-7	breast:
30	chr7:16431599..16434211-chr7:16436454..16438200,2	K562	blood:
31	chr7:16402270..16404238-chr7:16406373..16408999,2	K562	blood:
32	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
33	chr7:16431022..16434211-chr7:16436122..16439402,3	K562	blood:
34	chr7:16427338..16429420-chr7:16432571..16434518,2	K562	blood:
35	chr7:16397851..16402172-chr7:16402336..16405323,3	K562	blood:
36	chr7:16397851..16402172-chr7:16402336..16405323,3	K562	blood:
37	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
38	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
39	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
40	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
41	chr7:16444286..16446056-chr7:16454023..16455999,2	K562	blood:
42	chr7:16443928..16446056-chr7:16453024..16455999,2	K562	blood:
43	chr7:16448885..16451156-chr7:16453310..16455004,2	MCF-7	breast:
44	chr7:16402008..16404238-chr7:16406373..16408242,2	K562	blood:
45	chr7:16446305..16449837-chr7:16459881..16462752,5	MCF-7	breast:
46	chr7:16406566..16408387-chr7:16416040..16418438,2	K562	blood:
47	chr7:16402270..16404238-chr7:16406373..16408999,2	K562	blood:
48	chr7:16404670..16406505-chr7:16408648..16410407,2	MCF-7	breast:
49	chr7:16304631..16307990-chr7:16437547..16440554,3	K562	blood:
50	chr7:16436062..16438376-chr7:16440811..16443657,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106524	chromatin interactions
ENSG00000229688	chromatin interactions
ENSG00000136261	chromatin interactions
ENSG00000214960	chromatin interactions

Extended variants
information (count: 3686 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3686 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541831023	chr7:16377527-16377528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563104440	chr7:16377533-16377534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372835070	chr7:16377534-16377535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77012651	chr7:16377535-16377536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190122078	chr7:16377546-16377547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564369903	chr7:16377551-16377552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568477680	chr7:16377580-16377581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4349896	chr7:16377679-16377680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1921846	chr7:16377743-16377744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576451618	chr7:16377752-16377753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182771827	chr7:16377814-16377815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200191341	chr7:16377851-16377852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4349897	chr7:16377854-16377855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs114823779	chr7:16377880-16377881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558468392	chr7:16377911-16377912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143701915	chr7:16377996-16377997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574096776	chr7:16378032-16378033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568788222	chr7:16378038-16378039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534431721	chr7:16378063-16378064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138861089	chr7:16378096-16378097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10568828	chr7:16378143-16378144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377064941	chr7:16378147-16378148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188305741	chr7:16378156-16378157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58514650	chr7:16378160-16378161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535162090	chr7:16378167-16378168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193193964	chr7:16378168-16378169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183845289	chr7:16378172-16378173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78095710	chr7:16378205-16378206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188868322	chr7:16378224-16378225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs68121056	chr7:16378287-16378288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs59440007	chr7:16378318-16378319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540445882	chr7:16378430-16378431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563847329	chr7:16378438-16378439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575585584	chr7:16378439-16378440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59732453	chr7:16378457-16378458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561688631	chr7:16378474-16378475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193107149	chr7:16378485-16378486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183508967	chr7:16378497-16378498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562631201	chr7:16378508-16378509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533187682	chr7:16378525-16378526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2704676	chr7:16378532-16378533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566845949	chr7:16378552-16378553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527943789	chr7:16378585-16378586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549564541	chr7:16378601-16378602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544538382	chr7:16378607-16378608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567707681	chr7:16378643-16378644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538431607	chr7:16378644-16378645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188240855	chr7:16378652-16378653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557134669	chr7:16378673-16378674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28523689	chr7:16378677-16378678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16373200-16384400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:16378600-16381200	Weak transcription	K562	blood
3	chr7:16379800-16380400	Enhancers	HUVEC	blood vessel
4	chr7:16382600-16383000	Enhancers	Primary T cells from cord blood	blood
5	chr7:16383400-16383600	ZNF genes & repeats	K562	blood
6	chr7:16384000-16385000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:16384400-16385000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:16384600-16385000	Enhancers	Stomach Mucosa	stomach
9	chr7:16384800-16385400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:16384800-16388000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:16385000-16385200	Weak transcription	HMEC	breast
12	chr7:16385000-16385400	Weak transcription	Stomach Mucosa	stomach
13	chr7:16385000-16385600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:16385000-16387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:16385000-16388400	Enhancers	HSMM	muscle
16	chr7:16385200-16385400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:16385200-16386400	Enhancers	Osteobl	bone
18	chr7:16385200-16387600	Enhancers	HMEC	breast
19	chr7:16385200-16388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:16385400-16385600	Enhancers	Stomach Mucosa	stomach
21	chr7:16385400-16385800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:16385400-16386200	Enhancers	NH-A	brain
23	chr7:16385400-16388200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:16385600-16386400	Weak transcription	Stomach Mucosa	stomach
25	chr7:16385600-16386800	Enhancers	NHLF	lung
26	chr7:16385600-16387400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:16385600-16387600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:16385600-16387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:16385600-16387800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:16385600-16387800	Enhancers	HSMMtube	muscle
31	chr7:16385600-16388000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:16385600-16388000	Enhancers	NHDF-Ad	bronchial
33	chr7:16385600-16388200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:16385800-16386200	Enhancers	Fetal Heart	heart
35	chr7:16385800-16386800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr7:16385800-16386800	Enhancers	NHEK	skin
37	chr7:16385800-16387600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:16385800-16387800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:16385800-16388800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:16386000-16386400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:16386000-16386400	Enhancers	K562	blood
42	chr7:16386000-16386600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:16386000-16386600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:16386000-16387200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:16386000-16387600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:16386200-16386400	Enhancers	Fetal Kidney	kidney
47	chr7:16386200-16386600	Flanking Active TSS	Fetal Heart	heart
48	chr7:16386200-16386600	Enhancers	Ovary	ovary
49	chr7:16386200-16386600	Flanking Active TSS	NH-A	brain
50	chr7:16386200-16387400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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