Variant report

Variant	nsv1026963
Chromosome Location	chr7:108979199-109103350
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:109089263..109091879-chr7:109094627..109097378,2	K562	blood:
2	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
3	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
4	chr6:125963245..125963978-chr7:108992120..108992898,2	MCF-7	breast:
5	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:
6	chr7:109089263..109091879-chr7:109094627..109097378,2	K562	blood:
7	chr6:159978197..159978767-chr7:109093225..109094180,2	MCF-7	breast:
8	chr7:109098121..109100092-chr7:109106238..109108912,2	MCF-7	breast:
9	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
10	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:
11	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
12	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:
13	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:

No data

Extended variants
information (count: 658 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533873538	chr7:108983261-108983262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs848877	chr7:108983271-108983272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538282771	chr7:108983273-108983274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567390712	chr7:108983281-108983282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183054443	chr7:108983309-108983310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187550381	chr7:108983314-108983315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574818014	chr7:108983323-108983324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141958262	chr7:108983338-108983339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537864592	chr7:108983395-108983396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77183752	chr7:108983410-108983411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193109418	chr7:108983414-108983415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540616388	chr7:108983426-108983427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76813944	chr7:108983466-108983467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs848876	chr7:108983471-108983472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150674734	chr7:108983495-108983496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs848875	chr7:108983545-108983546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531652432	chr7:108983554-108983555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138884038	chr7:108983648-108983649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545068460	chr7:108983660-108983661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560413345	chr7:108983713-108983714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575412948	chr7:108983715-108983716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75371022	chr7:108983723-108983724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377060405	chr7:108985417-108985418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572074553	chr7:108985443-108985444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs848870	chr7:108985450-108985451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562999713	chr7:108985451-108985452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148735724	chr7:108985459-108985460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112739836	chr7:108985505-108985506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565113950	chr7:108985541-108985542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569663146	chr7:108985547-108985548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370135945	chr7:108985561-108985562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566959667	chr7:108985583-108985584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200064290	chr7:108985597-108985598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576916944	chr7:108985602-108985603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543352441	chr7:108985603-108985604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10681794	chr7:108985631-108985632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59505831	chr7:108985638-108985639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201548517	chr7:108985639-108985640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534444122	chr7:108985649-108985650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532207853	chr7:108985679-108985680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190467884	chr7:108985709-108985710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565249169	chr7:108985750-108985751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552385770	chr7:108985756-108985757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73422927	chr7:108985766-108985767	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs377031273	chr7:108985771-108985772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34322310	chr7:108985887-108985888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs848869	chr7:108985888-108985889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182215050	chr7:108985892-108985893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185802842	chr7:108985924-108985925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570301120	chr7:108985958-108985959	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108983200-108983600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:108983200-108983800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:108985400-108986000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:109001800-109002200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:109012000-109013400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:109015000-109017800	Enhancers	Fetal Intestine Small	intestine
7	chr7:109016000-109016400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:109016200-109016600	Enhancers	Fetal Heart	heart
9	chr7:109016400-109019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:109016600-109018200	Enhancers	Liver	Liver
11	chr7:109017200-109017600	Enhancers	Pancreas	Pancrea
12	chr7:109017800-109019000	Weak transcription	Fetal Intestine Small	intestine
13	chr7:109018200-109018600	Weak transcription	Liver	Liver
14	chr7:109018600-109019600	Enhancers	Liver	Liver
15	chr7:109019000-109020000	Enhancers	Fetal Intestine Small	intestine
16	chr7:109019200-109020000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:109029600-109030000	Enhancers	Fetal Intestine Small	intestine
18	chr7:109045400-109047000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:109045600-109046600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:109045600-109047000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:109045600-109047000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:109045800-109046400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:109046000-109046400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:109046000-109047000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:109048000-109048200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:109048200-109049400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr7:109054200-109054600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:109065800-109066400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:109065800-109066400	Enhancers	Pancreas	Pancrea
30	chr7:109078600-109079200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:109080400-109080600	Enhancers	Gastric	stomach
32	chr7:109092200-109092400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:109092400-109095200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:109095200-109095600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:109095600-109096000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:109096000-109096200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:109096000-109096400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr7:109096200-109096600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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