Variant report

Variant	nsv888952
Chromosome Location	chr7:109497935-109554369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:109524189..109525857-chr7:109531930..109534908,2	K562	blood:
2	chr7:109524189..109525857-chr7:109531930..109534908,2	K562	blood:
3	chr2:78150104..78151070-chr7:109526792..109527641,2	MCF-7	breast:
4	chr7:109537859..109540413-chr7:109543120..109545714,2	K562	blood:
5	chr7:109538440..109540413-chr7:109541881..109544620,2	K562	blood:
6	chr7:109537859..109540413-chr7:109543120..109545714,2	K562	blood:
7	chr7:109538440..109540413-chr7:109541881..109544620,2	K562	blood:

Extended variants
information (count: 600 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28730416	chr7:109504020-109504021	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536144962	chr7:109504090-109504091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6949632	chr7:109504136-109504137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs79100705	chr7:109504216-109504217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544225032	chr7:109504235-109504236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564159602	chr7:109504236-109504237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138184398	chr7:109504271-109504272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181014854	chr7:109504299-109504300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143452920	chr7:109504306-109504307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529122871	chr7:109504335-109504336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150513550	chr7:109504351-109504352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527438784	chr7:109504358-109504359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531661128	chr7:109504396-109504397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551361483	chr7:109504420-109504421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138365623	chr7:109504449-109504450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527334232	chr7:109504497-109504498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149271758	chr7:109504552-109504553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567047864	chr7:109504574-109504575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185689349	chr7:109504578-109504579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191531635	chr7:109504622-109504623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569177687	chr7:109504642-109504643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10231574	chr7:109504683-109504684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181667837	chr7:109504721-109504722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558090080	chr7:109504887-109504888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144472690	chr7:109504898-109504899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539356444	chr7:109504923-109504924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186826043	chr7:109504940-109504941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191667175	chr7:109504941-109504942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573764060	chr7:109504951-109504952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560681249	chr7:109511805-109511806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529763512	chr7:109511837-109511838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549134157	chr7:109511838-109511839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373518197	chr7:109511845-109511846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187219414	chr7:109511933-109511934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531865059	chr7:109512021-109512022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552100500	chr7:109512136-109512137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73423264	chr7:109512219-109512220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527721558	chr7:109512223-109512224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547832555	chr7:109512244-109512245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567726302	chr7:109512275-109512276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536753301	chr7:109512283-109512284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556037462	chr7:109512297-109512298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574191750	chr7:109512323-109512324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569876006	chr7:109512340-109512341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538546341	chr7:109512343-109512344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116780553	chr7:109512356-109512357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56069745	chr7:109512359-109512360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs75835880	chr7:109512361-109512362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78523246	chr7:109512408-109512409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554161771	chr7:109512488-109512489	Weak transcription 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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109504000-109504600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:109504200-109504600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr7:109504200-109504800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:109504200-109504800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:109504200-109504800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:109504200-109504800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:109504200-109504800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:109504200-109504800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:109504200-109505000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:109504400-109504600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:109511800-109512400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:109512400-109513200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:109512400-109513600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr7:109513200-109513800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:109513400-109513600	Enhancers	Pancreas	Pancrea
16	chr7:109513800-109514000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:109519200-109519800	Enhancers	Brain Germinal Matrix	brain
18	chr7:109519400-109519800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr7:109522000-109522200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:109522200-109524000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:109524000-109525400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:109525000-109525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:109525200-109527200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:109527200-109527600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:109529800-109533400	Weak transcription	Dnd41	blood
26	chr7:109532600-109532800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:109532600-109532800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:109532600-109533000	Enhancers	Ovary	ovary
29	chr7:109532800-109533200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:109532800-109533200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:109533000-109533400	Enhancers	Hela-S3	cervix
32	chr7:109533200-109533400	Active TSS	Adipose Nuclei	Adipose
33	chr7:109533200-109533400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr7:109533200-109533600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:109533200-109533600	Active TSS	Stomach Smooth Muscle	stomach
36	chr7:109533200-109533600	Active TSS	NHDF-Ad	bronchial
37	chr7:109533200-109533600	Active TSS	NHLF	lung
38	chr7:109533200-109533800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:109533200-109533800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:109533200-109533800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:109533200-109533800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:109533200-109533800	Active TSS	Ovary	ovary
43	chr7:109533200-109534000	Active TSS	A549	lung
44	chr7:109533400-109533600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr7:109533400-109533800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr7:109533400-109533800	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr7:109533400-109533800	Flanking Active TSS	Hela-S3	cervix
48	chr7:109533400-109533800	Enhancers	HUVEC	blood vessel
49	chr7:109533400-109534000	Active TSS	Right Atrium	heart
50	chr7:109533400-109534000	Enhancers	Dnd41	blood

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