Variant report

Variant	nsv888945
Chromosome Location	chr7:108445757-108521842
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:108504194..108506494-chr7:108506579..108509451,2	K562	blood:
2	chr7:108446020..108446958-chr7:108514927..108515877,4	MCF-7	breast:
3	chr7:108444713..108446847-chr7:108449132..108451787,3	K562	blood:
4	chr7:108283600..108284258-chr7:108515081..108515868,2	MCF-7	breast:
5	chr7:108419151..108420963-chr7:108489099..108491192,2	K562	blood:
6	chr7:108505714..108508292-chr7:108511459..108513668,2	K562	blood:
7	chr1:114242321..114244665-chr7:108476146..108478634,2	MCF-7	breast:
8	chr7:108447623..108449138-chr7:108453655..108455175,2	MCF-7	breast:
9	chr7:108505714..108508292-chr7:108511459..108513668,2	K562	blood:
10	chr7:108232912..108233506-chr7:108456271..108456944,3	MCF-7	breast:
11	chr7:108444713..108446847-chr7:108449132..108451787,3	K562	blood:
12	chr7:108501024..108502651-chr7:108503799..108506089,2	K562	blood:
13	chr7:108518923..108521599-chr7:108613932..108615872,2	K562	blood:
14	chr7:108504194..108506494-chr7:108506579..108509451,2	K562	blood:
15	chr7:108501024..108502651-chr7:108503799..108506089,2	K562	blood:
16	chr7:108415144..108417023-chr7:108467790..108470745,2	K562	blood:
17	chr7:108447623..108449138-chr7:108453655..108455175,2	MCF-7	breast:
18	chr7:108446020..108446958-chr7:108514927..108515877,4	MCF-7	breast:
19	chr7:108300958..108301532-chr7:108445959..108446922,2	MCF-7	breast:

No data

Extended variants
information (count: 1614 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1614 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191544214	chr7:108447630-108447631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151117311	chr7:108447653-108447654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542423512	chr7:108447695-108447696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574870552	chr7:108447728-108447729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139944491	chr7:108447735-108447736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149848968	chr7:108447754-108447755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553129434	chr7:108447786-108447787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376452669	chr7:108447797-108447798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56010253	chr7:108447816-108447817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545375222	chr7:108447835-108447836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533299118	chr7:108447860-108447861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531645596	chr7:108447877-108447878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17156209	chr7:108447883-108447884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376590024	chr7:108447901-108447902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28399004	chr7:108447926-108447927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs555650247	chr7:108447928-108447929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572855429	chr7:108447940-108447941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371658621	chr7:108447946-108447947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75206313	chr7:108447947-108447948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538139725	chr7:108447966-108447967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557826469	chr7:108447976-108447977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577709236	chr7:108448006-108448007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62467927	chr7:108448013-108448014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561287371	chr7:108448084-108448085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs80313363	chr7:108448156-108448157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553920006	chr7:108448161-108448162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374089538	chr7:108448282-108448283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573626813	chr7:108448286-108448287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542836359	chr7:108448296-108448297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73418634	chr7:108448444-108448445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578201601	chr7:108448455-108448456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181550667	chr7:108448478-108448479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550657509	chr7:108448553-108448554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544974623	chr7:108448588-108448589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147888933	chr7:108448683-108448684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564792663	chr7:108448693-108448694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533167606	chr7:108448694-108448695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75142916	chr7:108448794-108448795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74741498	chr7:108448822-108448823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186167646	chr7:108448827-108448828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566637967	chr7:108448868-108448869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529344945	chr7:108448892-108448893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141522788	chr7:108448899-108448900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569342127	chr7:108448931-108448932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538576412	chr7:108448944-108448945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145485390	chr7:108448983-108448984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571928678	chr7:108449029-108449030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369673261	chr7:108449035-108449036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147684583	chr7:108449051-108449052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553781075	chr7:108449065-108449066	Enhancers	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
Schizophrenia	23813976	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108447600-108447800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:108447800-108449000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:108448600-108451600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:108448800-108450200	Enhancers	Fetal Lung	lung
5	chr7:108449000-108449600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:108449800-108451600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:108451400-108452400	Enhancers	Fetal Muscle Leg	muscle
8	chr7:108451600-108453800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:108452400-108456200	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:108453800-108454200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:108456200-108456600	Enhancers	Fetal Muscle Leg	muscle
12	chr7:108456600-108460200	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:108458400-108459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:108464400-108465600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:108464800-108465200	Enhancers	NH-A	brain
16	chr7:108464800-108466000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:108465000-108465400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:108465000-108465400	Enhancers	A549	lung
19	chr7:108465000-108465600	Enhancers	Aorta	Aorta
20	chr7:108465000-108465600	Enhancers	Colon Smooth Muscle	Colon
21	chr7:108465000-108465600	Enhancers	HUVEC	blood vessel
22	chr7:108465000-108465800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:108465000-108466000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:108465000-108466000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:108465200-108465400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:108465200-108465400	Flanking Active TSS	NH-A	brain
27	chr7:108465200-108465600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:108465200-108465800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:108465200-108466000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:108465400-108465600	Enhancers	NH-A	brain
31	chr7:108465400-108465800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:108465400-108465800	Enhancers	Brain Anterior Caudate	brain
33	chr7:108465400-108466000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:108465400-108466000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:108465400-108466400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:108465600-108466000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:108465600-108466000	Enhancers	Fetal Muscle Leg	muscle
38	chr7:108465600-108466200	Flanking Active TSS	NH-A	brain
39	chr7:108465800-108466400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:108466000-108466800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:108466200-108466400	Enhancers	NH-A	brain
42	chr7:108476800-108479000	Enhancers	Fetal Stomach	stomach
43	chr7:108477000-108477200	Enhancers	Colon Smooth Muscle	Colon
44	chr7:108477000-108477200	Enhancers	Fetal Brain Male	brain
45	chr7:108477200-108477400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:108477200-108478200	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:108477200-108478400	Weak transcription	Fetal Brain Male	brain
48	chr7:108477200-108480000	Enhancers	Fetal Brain Female	brain
49	chr7:108477400-108478200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:108477600-108479000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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