Variant report

Variant	nsv1034789
Chromosome Location	chr7:85137730-85175007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:85144834..85146430-chr7:85147566..85149706,2	K562	blood:
2	chr7:85153959..85156643-chr7:85186340..85188558,2	K562	blood:
3	chr7:85144834..85146430-chr7:85147566..85149706,2	K562	blood:
4	chr7:85134714..85136666-chr7:85145066..85147658,2	K562	blood:

Extended variants
information (count: 857 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191791072	chr7:85137730-85137731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142288147	chr7:85137778-85137779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17160014	chr7:85137782-85137783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10435248	chr7:85137837-85137838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559249718	chr7:85137838-85137839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182526659	chr7:85137847-85137848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544761114	chr7:85137885-85137886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554478496	chr7:85137888-85137889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61197824	chr7:85137898-85137899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1358539	chr7:85137911-85137912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540254037	chr7:85137935-85137936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542254523	chr7:85137951-85137952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188220925	chr7:85137956-85137957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147122689	chr7:85137963-85137964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192504092	chr7:85137984-85137985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117784125	chr7:85137992-85137993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7779239	chr7:85138021-85138022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532228568	chr7:85138081-85138082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544738176	chr7:85138086-85138087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562929895	chr7:85138142-85138143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13221613	chr7:85138164-85138165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13221614	chr7:85138168-85138169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13221617	chr7:85138178-85138179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13234585	chr7:85138195-85138196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569287621	chr7:85138205-85138206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs59146000	chr7:85138230-85138231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548650527	chr7:85138239-85138240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113969283	chr7:85138253-85138254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566877258	chr7:85138283-85138284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2498540	chr7:85138367-85138368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542517778	chr7:85138379-85138380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560786715	chr7:85138382-85138383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528055031	chr7:85138392-85138393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571100327	chr7:85138450-85138451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538087239	chr7:85138465-85138466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556705433	chr7:85138497-85138498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190512801	chr7:85138506-85138507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139941679	chr7:85138520-85138521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192347939	chr7:85138531-85138532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184421265	chr7:85138575-85138576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375985667	chr7:85138606-85138607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2498539	chr7:85138665-85138666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs577051481	chr7:85138690-85138691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544119874	chr7:85138696-85138697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188765735	chr7:85138712-85138713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2498538	chr7:85138729-85138730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201706154	chr7:85138738-85138739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74349365	chr7:85138758-85138759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112208342	chr7:85138760-85138761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73703668	chr7:85138798-85138799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85137200-85138000	Enhancers	Fetal Lung	lung
2	chr7:85137600-85139200	Enhancers	NHLF	lung
3	chr7:85137800-85139200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:85137800-85139200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:85138000-85139000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:85138000-85139000	Enhancers	NH-A	brain
7	chr7:85138000-85139000	Enhancers	NHDF-Ad	bronchial
8	chr7:85138000-85139200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:85138000-85139800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:85138200-85139000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:85138200-85139200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:85139000-85139400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr7:85139000-85139800	Weak transcription	NHDF-Ad	bronchial
14	chr7:85139000-85146200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:85139200-85144000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:85139200-85144000	Weak transcription	NHLF	lung
17	chr7:85139200-85144400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:85139800-85140000	Enhancers	NHDF-Ad	bronchial
19	chr7:85139800-85145800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:85143800-85144600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:85144000-85144600	Enhancers	NHLF	lung
22	chr7:85144000-85144800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:85144400-85144800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:85144400-85144800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:85144600-85145400	Weak transcription	NHLF	lung
26	chr7:85144800-85145800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:85145800-85146000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:85145800-85146400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:85146200-85146400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:85146400-85150800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:85146600-85150600	Weak transcription	Fetal Kidney	kidney
32	chr7:85149200-85150600	Enhancers	Fetal Lung	lung
33	chr7:85149600-85150000	Enhancers	Fetal Stomach	stomach
34	chr7:85150000-85150400	Weak transcription	Fetal Stomach	stomach
35	chr7:85150400-85151000	Enhancers	Colon Smooth Muscle	Colon
36	chr7:85150400-85151000	Enhancers	Fetal Stomach	stomach
37	chr7:85150400-85151000	Enhancers	NHLF	lung
38	chr7:85150600-85150800	Flanking Active TSS	Fetal Lung	lung
39	chr7:85150600-85151000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:85150600-85151000	Enhancers	Fetal Heart	heart
41	chr7:85150800-85151000	Enhancers	Fetal Kidney	kidney
42	chr7:85150800-85151000	Enhancers	Fetal Lung	lung
43	chr7:85150800-85151000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr7:85150800-85151200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:85150800-85151200	Enhancers	Small Intestine	intestine
46	chr7:85151000-85151200	Flanking Active TSS	Fetal Lung	lung
47	chr7:85151000-85154800	Weak transcription	NHLF	lung
48	chr7:85151200-85152600	Enhancers	Fetal Lung	lung
49	chr7:85151200-85158000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:85152600-85155000	Weak transcription	Fetal Lung	lung

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