Variant report

Variant	nsv1033413
Chromosome Location	chr7:109708388-109747058
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:109730201..109731073-chr7:110082423..110082955,4	MCF-7	breast:
2	chr7:109722572..109725261-chr7:109725465..109727618,2	K562	blood:
3	chr7:109722572..109724560-chr7:109725322..109727410,3	K562	blood:
4	chr7:109729852..109730963-chr7:110082075..110082714,4	MCF-7	breast:
5	chr7:109722572..109724560-chr7:109725322..109727410,3	K562	blood:
6	chr7:109722572..109725261-chr7:109725465..109727618,2	K562	blood:
7	chr7:108253546..108254236-chr7:109729971..109730802,2	MCF-7	breast:
8	chr7:109729949..109731077-chr7:109844325..109845051,5	MCF-7	breast:

No data

Extended variants
information (count: 910 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540513450	chr7:109711028-109711029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193232845	chr7:109711053-109711054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573523581	chr7:109711073-109711074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1723620	chr7:109711074-109711075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184825382	chr7:109711135-109711136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117678432	chr7:109711148-109711149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558658109	chr7:109711151-109711152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550802378	chr7:109711191-109711192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189392454	chr7:109711192-109711193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7788952	chr7:109711280-109711281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546872102	chr7:109711323-109711324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566872235	chr7:109711332-109711333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535450749	chr7:109711360-109711361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549458107	chr7:109711367-109711368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371636039	chr7:109711373-109711374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs36027449	chr7:109711374-109711375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569295837	chr7:109711387-109711388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374213287	chr7:109711417-109711418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538342488	chr7:109711428-109711429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180747478	chr7:109711450-109711451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183638582	chr7:109711452-109711453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7793344	chr7:109711537-109711538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553756698	chr7:109711556-109711557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573584791	chr7:109711559-109711560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542218901	chr7:109711599-109711600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562495286	chr7:109711691-109711692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540598167	chr7:109711727-109711728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141807959	chr7:109711732-109711733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374064841	chr7:109711733-109711734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188399507	chr7:109711775-109711776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533312896	chr7:109711792-109711793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547292223	chr7:109711846-109711847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147038725	chr7:109711849-109711850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9649329	chr7:109711861-109711862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181443097	chr7:109711867-109711868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367547177	chr7:109711920-109711921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569254585	chr7:109711949-109711950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186870761	chr7:109711999-109712000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10236466	chr7:109712031-109712032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191719640	chr7:109712035-109712036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533928465	chr7:109712037-109712038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554045401	chr7:109712119-109712120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182035987	chr7:109712135-109712136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10236606	chr7:109712136-109712137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536544755	chr7:109712156-109712157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555912850	chr7:109712172-109712173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186341090	chr7:109712293-109712294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117080882	chr7:109712386-109712387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17469491	chr7:109712420-109712421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191045118	chr7:109712431-109712432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109711000-109711200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr7:109711200-109711600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:109711400-109711800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:109711400-109711800	Enhancers	Fetal Brain Male	brain
5	chr7:109711600-109713800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:109711800-109712200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:109712200-109712800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:109713600-109714000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:109713800-109714200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:109716800-109717200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:109723800-109724200	Enhancers	Fetal Brain Male	brain
12	chr7:109723800-109724400	Enhancers	Fetal Heart	heart
13	chr7:109724000-109725200	Enhancers	Liver	Liver
14	chr7:109724200-109724600	Enhancers	Pancreas	Pancrea
15	chr7:109724400-109724800	Enhancers	Adipose Nuclei	Adipose
16	chr7:109724400-109724800	Enhancers	Fetal Stomach	stomach
17	chr7:109724400-109725000	Enhancers	Fetal Lung	lung
18	chr7:109724600-109725400	Enhancers	Fetal Brain Female	brain
19	chr7:109728600-109730600	Weak transcription	Dnd41	blood
20	chr7:109730600-109730800	ZNF genes & repeats	Dnd41	blood
21	chr7:109732600-109733000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:109733000-109733400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:109733000-109734000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:109733400-109733600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:109734400-109736400	Enhancers	Colon Smooth Muscle	Colon
26	chr7:109736800-109737800	Enhancers	Dnd41	blood
27	chr7:109737800-109738200	Weak transcription	Dnd41	blood
28	chr7:109738200-109739200	ZNF genes & repeats	Dnd41	blood
29	chr7:109739200-109755800	Weak transcription	Dnd41	blood
30	chr7:109744200-109745400	Enhancers	Brain Germinal Matrix	brain
31	chr7:109745200-109745800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:109745200-109746000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:109745400-109745600	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr7:109745400-109745800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:109745400-109746000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:109745400-109746200	Enhancers	HMEC	breast
37	chr7:109745400-109746600	Enhancers	NHEK	skin
38	chr7:109745600-109745800	Active TSS	Brain Germinal Matrix	brain
39	chr7:109746000-109747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:109746200-109747200	Weak transcription	HMEC	breast
41	chr7:109746600-109748400	Weak transcription	NHEK	skin
42	chr7:109747000-109749000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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