Variant report

Variant	nsv888960
Chromosome Location	chr7:109830780-109877875
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:1)
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	chr7:109864222..109866829-chr7:109868862..109870700,2	MCF-7	breast:
2	chr7:109866942..109868597-chr7:109868630..109871136,2	MCF-7	breast:
3	chr7:109729949..109731077-chr7:109844325..109845051,5	MCF-7	breast:
4	chr7:109829687..109832206-chr7:109833977..109835714,2	MCF-7	breast:
5	chr7:109858826..109860608-chr7:110161184..110163464,2	MCF-7	breast:
6	chr7:109864222..109866829-chr7:109868862..109870700,2	MCF-7	breast:
7	chr7:109829687..109832206-chr7:109833977..109835714,2	MCF-7	breast:
8	chr7:109848112..109850390-chr7:109852917..109854789,2	K562	blood:
9	chr7:109848112..109850390-chr7:109852917..109854789,2	K562	blood:
10	chr7:109866942..109868597-chr7:109868630..109871136,2	MCF-7	breast:
11	chr7:109860312..109862571-chr7:109908993..109910664,2	K562	blood:
12	chr7:109484230..109484803-chr7:109844371..109845272,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRN3-3	chr7:109867882-109868182	NONHSAT122760

No data

Extended variants
information (count: 845 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565782817	chr7:109832039-109832040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534651287	chr7:109832058-109832059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551182838	chr7:109832066-109832067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534055951	chr7:109832099-109832100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557262904	chr7:109832162-109832163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374113365	chr7:109832166-109832167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111225916	chr7:109832189-109832190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs398005824	chr7:109832216-109832217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56937470	chr7:109832217-109832218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574805464	chr7:109832219-109832220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17157454	chr7:109832230-109832231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556904805	chr7:109832234-109832235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569615584	chr7:109832238-109832239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546161975	chr7:109832244-109832245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537182881	chr7:109832300-109832301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559686311	chr7:109832313-109832314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148969809	chr7:109832356-109832357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570377239	chr7:109832364-109832365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13234406	chr7:109840835-109840836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571007866	chr7:109840918-109840919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540144460	chr7:109840974-109840975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576031962	chr7:109841005-109841006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554858236	chr7:109841026-109841027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544888532	chr7:109841041-109841042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566795498	chr7:109841073-109841074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577913462	chr7:109841076-109841077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540769679	chr7:109841081-109841082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542472448	chr7:109841084-109841085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560374784	chr7:109841092-109841093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556883752	chr7:109841103-109841104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181704917	chr7:109841104-109841105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11977487	chr7:109841120-109841121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558820354	chr7:109841191-109841192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548744715	chr7:109841210-109841211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144047812	chr7:109841220-109841221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531515779	chr7:109841221-109841222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78192509	chr7:109841257-109841258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145955679	chr7:109841267-109841268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576849929	chr7:109841272-109841273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536327697	chr7:109841281-109841282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190545499	chr7:109841283-109841284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575868496	chr7:109841394-109841395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115158608	chr7:109841419-109841420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372070570	chr7:109841428-109841429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183080329	chr7:109841433-109841434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200257420	chr7:109841441-109841442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558165370	chr7:109841480-109841481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140141312	chr7:109841484-109841485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186362493	chr7:109841494-109841495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560663520	chr7:109841540-109841541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109832000-109832400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:109840800-109843400	Weak transcription	Dnd41	blood
3	chr7:109843400-109845200	Strong transcription	Dnd41	blood
4	chr7:109845200-109851200	Weak transcription	Dnd41	blood
5	chr7:109845800-109846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:109851200-109851800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:109851200-109852400	Enhancers	Dnd41	blood
8	chr7:109852400-109854200	Weak transcription	Dnd41	blood
9	chr7:109852800-109853200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:109854600-109854800	ZNF genes & repeats	Dnd41	blood
11	chr7:109856200-109857000	Enhancers	Dnd41	blood
12	chr7:109863600-109864200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:109864600-109865000	Enhancers	Hela-S3	cervix
14	chr7:109864800-109865000	Enhancers	Pancreas	Pancrea
15	chr7:109864800-109865200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:109866000-109866200	Enhancers	Pancreas	Pancrea
17	chr7:109867400-109868200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:109867600-109868000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:109867600-109868200	Enhancers	Dnd41	blood
20	chr7:109867800-109869200	Enhancers	Fetal Lung	lung
21	chr7:109869200-109869600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:109869600-109870800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:109870800-109871200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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