Variant report

Variant	nsv1034274
Chromosome Location	chr7:109003574-109080396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
2	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
3	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:
4	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:
5	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:
6	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
7	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:

Extended variants
information (count: 419 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187913598	chr7:109012024-109012025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74662268	chr7:109012048-109012049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552561208	chr7:109012128-109012129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575848039	chr7:109012190-109012191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4532542	chr7:109012201-109012202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369429611	chr7:109012244-109012245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544903157	chr7:109012245-109012246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369786530	chr7:109012270-109012271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78459616	chr7:109012274-109012275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565086764	chr7:109012302-109012303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191102673	chr7:109012304-109012305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184390322	chr7:109012319-109012320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1406296	chr7:109012340-109012341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189708866	chr7:109012345-109012346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549711525	chr7:109012349-109012350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1406297	chr7:109012375-109012376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532011825	chr7:109012389-109012390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192749432	chr7:109012444-109012445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571805376	chr7:109012491-109012492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533661184	chr7:109012515-109012516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77367476	chr7:109012518-109012519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566946014	chr7:109012539-109012540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535811794	chr7:109012581-109012582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540064376	chr7:109012614-109012615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10249480	chr7:109012644-109012645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575975732	chr7:109012646-109012647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568380011	chr7:109012708-109012709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185007759	chr7:109012760-109012761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34801215	chr7:109012787-109012788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558481567	chr7:109012796-109012797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572156107	chr7:109012875-109012876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151051873	chr7:109012886-109012887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373103160	chr7:109012888-109012889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560534823	chr7:109012937-109012938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141347938	chr7:109012986-109012987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111589703	chr7:109012990-109012991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2204699	chr7:109013038-109013039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562869851	chr7:109013059-109013060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376032350	chr7:109013082-109013083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531955581	chr7:109013109-109013110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189022563	chr7:109013112-109013113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146975973	chr7:109013132-109013133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527858358	chr7:109013190-109013191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181734723	chr7:109013286-109013287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567057656	chr7:109013359-109013360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11763389	chr7:109013378-109013379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537209410	chr7:109015001-109015002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550487927	chr7:109015037-109015038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570160632	chr7:109015068-109015069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182704679	chr7:109015157-109015158	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109012000-109013400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:109015000-109017800	Enhancers	Fetal Intestine Small	intestine
3	chr7:109016000-109016400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:109016200-109016600	Enhancers	Fetal Heart	heart
5	chr7:109016400-109019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:109016600-109018200	Enhancers	Liver	Liver
7	chr7:109017200-109017600	Enhancers	Pancreas	Pancrea
8	chr7:109017800-109019000	Weak transcription	Fetal Intestine Small	intestine
9	chr7:109018200-109018600	Weak transcription	Liver	Liver
10	chr7:109018600-109019600	Enhancers	Liver	Liver
11	chr7:109019000-109020000	Enhancers	Fetal Intestine Small	intestine
12	chr7:109019200-109020000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:109029600-109030000	Enhancers	Fetal Intestine Small	intestine
14	chr7:109045400-109047000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:109045600-109046600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:109045600-109047000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:109045600-109047000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:109045800-109046400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:109046000-109046400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:109046000-109047000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:109048000-109048200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:109048200-109049400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:109054200-109054600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:109065800-109066400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:109065800-109066400	Enhancers	Pancreas	Pancrea
26	chr7:109078600-109079200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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