Variant report

Variant	nsv608340
Chromosome Location	chr7:124138187-124196444
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:124152524..124155353-chr7:124155708..124157967,2	K562	blood:
2	chr7:124150018..124152353-chr7:124155127..124157377,2	MCF-7	breast:
3	chr7:124152524..124155353-chr7:124155708..124157967,2	K562	blood:
4	chr7:124150018..124152353-chr7:124155127..124157377,2	MCF-7	breast:
5	chr7:124136314..124138720-chr7:124182818..124185016,2	K562	blood:
6	chr7:124171303..124174043-chr7:124174734..124176823,2	MCF-7	breast:
7	chr7:124171303..124174043-chr7:124174734..124176823,2	MCF-7	breast:
8	chr7:124183948..124185462-chr7:124404482..124406185,2	MCF-7	breast:
9	chr7:124136314..124138720-chr7:124182818..124185016,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170775	chromatin interactions

Extended variants
information (count: 1078 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1078 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538790101	chr7:124140818-124140819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145114628	chr7:124140820-124140821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs80264625	chr7:124140827-124140828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149074156	chr7:124140831-124140832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554130751	chr7:124140842-124140843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574222409	chr7:124140889-124140890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186010799	chr7:124140894-124140895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543901333	chr7:124140974-124140975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113882731	chr7:124141001-124141002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189260428	chr7:124141007-124141008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543586151	chr7:124141011-124141012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545536542	chr7:124141092-124141093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181290963	chr7:124141107-124141108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56844958	chr7:124141140-124141141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575884222	chr7:124141150-124141151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556806382	chr7:124141207-124141208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544649039	chr7:124141277-124141278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561242681	chr7:124141278-124141279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74567933	chr7:124141292-124141293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540744520	chr7:124141310-124141311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542232179	chr7:124141343-124141344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560589952	chr7:124141359-124141360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532256921	chr7:124141372-124141373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74521955	chr7:124141373-124141374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6466932	chr7:124141376-124141377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76126072	chr7:124141391-124141392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548054120	chr7:124141453-124141454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373208777	chr7:124141526-124141527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11766249	chr7:124141572-124141573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs375142486	chr7:124141575-124141576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76760531	chr7:124141582-124141583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142903617	chr7:124141619-124141620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77639987	chr7:124141633-124141634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570523385	chr7:124141649-124141650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530968263	chr7:124141667-124141668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186387898	chr7:124141689-124141690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544193080	chr7:124141704-124141705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559090315	chr7:124141736-124141737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575873699	chr7:124141737-124141738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190855290	chr7:124141742-124141743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555265110	chr7:124141744-124141745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369324775	chr7:124141758-124141759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540631241	chr7:124141822-124141823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560425736	chr7:124141839-124141840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532625812	chr7:124141878-124141879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182666640	chr7:124141892-124141893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562726699	chr7:124141899-124141900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531369495	chr7:124141910-124141911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545343319	chr7:124141913-124141914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548089357	chr7:124141945-124141946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124140800-124141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124141800-124142200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:124142200-124142600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:124149600-124149800	Enhancers	Fetal Lung	lung
5	chr7:124149800-124153800	Weak transcription	Fetal Lung	lung
6	chr7:124153800-124154600	Enhancers	Brain Substantia Nigra	brain
7	chr7:124153800-124155800	Enhancers	Fetal Lung	lung
8	chr7:124154000-124154200	Enhancers	Brain Cingulate Gyrus	brain
9	chr7:124154000-124154600	Enhancers	Fetal Stomach	stomach
10	chr7:124154200-124155600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:124154600-124155600	Weak transcription	Brain Substantia Nigra	brain
12	chr7:124155000-124156200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:124155200-124156400	Enhancers	Brain Hippocampus Middle	brain
14	chr7:124155400-124155800	Enhancers	Brain Angular Gyrus	brain
15	chr7:124155600-124155800	Enhancers	Brain Cingulate Gyrus	brain
16	chr7:124155600-124155800	Enhancers	Brain Substantia Nigra	brain
17	chr7:124155800-124156800	Weak transcription	Fetal Lung	lung
18	chr7:124156200-124158000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:124156400-124158000	Enhancers	Fetal Brain Male	brain
20	chr7:124156800-124157000	Enhancers	Fetal Lung	lung
21	chr7:124158000-124159000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:124165000-124165400	ZNF genes & repeats	Pancreas	Pancrea
23	chr7:124165200-124165600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:124165400-124166200	Weak transcription	Pancreas	Pancrea
25	chr7:124165800-124166400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:124166200-124166400	Enhancers	Pancreas	Pancrea
27	chr7:124171600-124171800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:124171800-124172600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:124172200-124172600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:124172600-124173000	Enhancers	NHLF	lung
31	chr7:124172600-124173200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:124172600-124173600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:124173000-124176200	Weak transcription	NHLF	lung
34	chr7:124173200-124176000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:124173600-124173800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:124173600-124174200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:124174200-124174600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:124174600-124174800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:124174800-124176200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:124175200-124175800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:124175800-124176800	Enhancers	HepG2	liver
42	chr7:124175800-124177000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:124175800-124177200	Enhancers	Fetal Lung	lung
44	chr7:124176000-124176200	Enhancers	A549	lung
45	chr7:124176000-124177000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:124176000-124177000	Enhancers	Liver	Liver
47	chr7:124176000-124177000	Enhancers	Hela-S3	cervix
48	chr7:124176200-124176600	Flanking Active TSS	A549	lung
49	chr7:124176200-124176800	Enhancers	NHLF	lung
50	chr7:124176200-124177000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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