Variant report

Variant	nsv606674
Chromosome Location	chr7:38619348-38655758
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:38652231..38655268-chr7:38661915..38665252,3	K562	blood:
2	chr7:38630128..38631798-chr7:38634013..38636339,2	K562	blood:
3	chr7:38601991..38603712-chr7:38618037..38620119,2	K562	blood:
4	chr7:38618739..38620656-chr7:38620833..38623175,2	K562	blood:
5	chr7:38643008..38645454-chr7:38647568..38650128,2	K562	blood:
6	chr7:38643008..38645454-chr7:38647568..38650128,2	K562	blood:
7	chr7:38647481..38649540-chr7:38651687..38654931,3	K562	blood:
8	chr7:38653519..38655890-chr7:38658744..38661009,2	K562	blood:
9	chr7:38647481..38649540-chr7:38651687..38654931,3	K562	blood:
10	chr7:38630128..38631798-chr7:38634013..38636339,2	K562	blood:
11	chr7:38618739..38620656-chr7:38620833..38623175,2	K562	blood:
12	chr7:38652950..38655031-chr7:38656050..38658738,2	MCF-7	breast:

No data

Extended variants
information (count: 1237 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1237 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6948732	chr7:38619348-38619349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113754817	chr7:38619419-38619420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62444238	chr7:38619469-38619470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577742540	chr7:38619482-38619483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546368374	chr7:38619496-38619497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562963391	chr7:38619510-38619511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148505231	chr7:38619514-38619515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548558928	chr7:38619631-38619632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370026327	chr7:38619632-38619633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555036781	chr7:38619643-38619644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562380229	chr7:38619675-38619676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113064889	chr7:38619677-38619678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77385126	chr7:38619685-38619686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371060632	chr7:38619746-38619747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188297117	chr7:38619770-38619771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571069668	chr7:38619777-38619778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373380772	chr7:38619808-38619809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539634000	chr7:38619850-38619851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534616408	chr7:38619901-38619902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569364031	chr7:38619908-38619909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141857661	chr7:38619918-38619919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554909049	chr7:38619919-38619920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192142382	chr7:38619953-38619954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150686647	chr7:38620017-38620018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534947782	chr7:38620089-38620090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557766686	chr7:38620094-38620095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6953688	chr7:38620096-38620097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs17413477	chr7:38620150-38620151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75252299	chr7:38620164-38620165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61683273	chr7:38620172-38620173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140166193	chr7:38620224-38620225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368425824	chr7:38620259-38620260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35675272	chr7:38620261-38620262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147950541	chr7:38620294-38620295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369456359	chr7:38620297-38620298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552657872	chr7:38620300-38620301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568855996	chr7:38620303-38620304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539405477	chr7:38620304-38620305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73126110	chr7:38620310-38620311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs59983460	chr7:38620381-38620382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370581679	chr7:38620537-38620538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564582100	chr7:38620544-38620545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17171403	chr7:38620560-38620561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183674844	chr7:38620579-38620580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569428283	chr7:38620596-38620597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115041764	chr7:38620610-38620611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560169514	chr7:38620626-38620627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188293398	chr7:38620686-38620687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368968171	chr7:38620693-38620694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373199296	chr7:38620698-38620699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38608400-38634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:38614200-38623600	Weak transcription	Fetal Heart	heart
3	chr7:38614200-38623800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:38615200-38623200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:38615400-38626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:38617600-38619800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:38619400-38619600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:38619600-38623400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:38619800-38623200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:38623200-38623400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:38623200-38623400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:38623200-38626200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr7:38623400-38624000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:38623400-38624200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:38623400-38629400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:38623600-38623800	Enhancers	NHDF-Ad	bronchial
17	chr7:38623600-38624000	Enhancers	Fetal Heart	heart
18	chr7:38623600-38624000	Enhancers	NH-A	brain
19	chr7:38623800-38624000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:38623800-38624200	Flanking Active TSS	NHDF-Ad	bronchial
21	chr7:38623800-38624600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:38623800-38625200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:38623800-38625600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:38623800-38626000	Enhancers	Stomach Smooth Muscle	stomach
25	chr7:38624000-38624400	Flanking Active TSS	NH-A	brain
26	chr7:38624000-38624600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:38624000-38624600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr7:38624000-38625000	Enhancers	Adipose Nuclei	Adipose
29	chr7:38624000-38625000	Flanking Active TSS	Fetal Heart	heart
30	chr7:38624000-38625000	Enhancers	Fetal Muscle Leg	muscle
31	chr7:38624000-38625000	Enhancers	Right Atrium	heart
32	chr7:38624000-38625200	Enhancers	Left Ventricle	heart
33	chr7:38624000-38625200	Enhancers	Right Ventricle	heart
34	chr7:38624000-38626000	Enhancers	Aorta	Aorta
35	chr7:38624200-38625000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:38624200-38625200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:38624200-38625200	Enhancers	NHDF-Ad	bronchial
38	chr7:38624200-38625600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr7:38624400-38625000	Enhancers	Brain Cingulate Gyrus	brain
40	chr7:38624400-38625800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:38624400-38625800	Enhancers	NH-A	brain
42	chr7:38624600-38625200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:38624600-38625200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:38624600-38625400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:38624800-38625000	Enhancers	HSMMtube	muscle
46	chr7:38625000-38625400	Enhancers	Fetal Heart	heart
47	chr7:38625000-38634600	Weak transcription	Right Atrium	heart
48	chr7:38625400-38625600	Flanking Active TSS	Fetal Heart	heart
49	chr7:38625400-38641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:38625600-38626400	Enhancers	Fetal Heart	heart

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