Variant report

Variant	nsv1022788
Chromosome Location	chr7:70428243-70558485
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	chr7:70472764..70475068-chr7:70478258..70480877,2	K562	blood:
2	chr7:70462545..70464219-chr7:70469088..70471612,2	K562	blood:
3	chr7:70472764..70475068-chr7:70478258..70480877,2	K562	blood:
4	chr7:70445361..70447643-chr7:70448432..70451410,2	K562	blood:
5	chr7:70462461..70464194-chr7:70473424..70476009,2	K562	blood:
6	chr7:70462461..70464194-chr7:70473424..70476009,2	K562	blood:
7	chr7:70462545..70464219-chr7:70469088..70471612,2	K562	blood:
8	chr7:70445361..70447643-chr7:70448432..70451410,2	K562	blood:

No data

Extended variants
information (count: 3478 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3478 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6460607	chr7:70434802-70434803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144140887	chr7:70434813-70434814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533466324	chr7:70434827-70434828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7793139	chr7:70434829-70434830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs146494127	chr7:70434867-70434868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536660253	chr7:70434869-70434870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559083188	chr7:70434874-70434875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534215571	chr7:70434878-70434879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549385565	chr7:70434893-70434894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567977401	chr7:70434894-70434895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538513088	chr7:70434914-70434915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556721517	chr7:70434921-70434922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190742690	chr7:70434941-70434942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539212957	chr7:70434944-70434945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4719040	chr7:70434966-70434967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541044014	chr7:70434995-70434996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561306393	chr7:70435034-70435035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182031857	chr7:70435058-70435059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185548011	chr7:70435086-70435087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140841545	chr7:70435094-70435095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573618036	chr7:70435107-70435108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544051671	chr7:70435165-70435166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562708792	chr7:70435174-70435175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533028260	chr7:70435180-70435181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4719041	chr7:70435190-70435191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150130740	chr7:70435196-70435197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542471418	chr7:70435206-70435207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527753613	chr7:70435230-70435231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189263094	chr7:70435246-70435247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567618718	chr7:70435256-70435257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540161458	chr7:70435276-70435277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145516475	chr7:70435281-70435282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538548846	chr7:70435285-70435286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550247517	chr7:70435295-70435296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571905162	chr7:70435296-70435297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6460608	chr7:70435305-70435306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117961538	chr7:70435324-70435325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572617868	chr7:70435360-70435361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551098511	chr7:70435394-70435395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533612768	chr7:70435403-70435404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6965100	chr7:70435418-70435419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs180683709	chr7:70435446-70435447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76420426	chr7:70435493-70435494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185745367	chr7:70435514-70435515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113356985	chr7:70435519-70435520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544893404	chr7:70435527-70435528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146184306	chr7:70435538-70435539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555597309	chr7:70435552-70435553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190213151	chr7:70435584-70435585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74951016	chr7:70435587-70435588	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70434800-70435400	Enhancers	Spleen	Spleen
2	chr7:70435000-70435600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:70438200-70438800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:70440400-70441200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:70441000-70441400	Enhancers	Fetal Stomach	stomach
6	chr7:70441400-70445600	Weak transcription	Fetal Stomach	stomach
7	chr7:70443600-70445800	Enhancers	Fetal Muscle Trunk	muscle
8	chr7:70444600-70445000	Enhancers	Spleen	Spleen
9	chr7:70445000-70445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:70445000-70445600	Enhancers	Fetal Muscle Leg	muscle
11	chr7:70445400-70445600	Enhancers	Brain Angular Gyrus	brain
12	chr7:70445400-70446800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:70445600-70445800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:70445600-70446000	Enhancers	Fetal Stomach	stomach
15	chr7:70445800-70453000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:70448400-70448800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:70448600-70448800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:70448600-70449000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:70448800-70449000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:70448800-70450000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:70448800-70453800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:70449000-70453800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:70449200-70454000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:70449800-70450000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:70449800-70450000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:70450000-70451600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:70450000-70453000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:70450000-70458200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:70451000-70451800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:70451800-70454600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr7:70453000-70453200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:70453000-70454800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:70453200-70454000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:70453800-70454200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:70453800-70454800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:70454000-70454200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:70454000-70454200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:70454000-70454800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:70454200-70454400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:70454200-70454600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:70454200-70459200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:70454400-70454800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:70454600-70454800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr7:70454600-70455000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr7:70454600-70455000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:70454800-70458000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:70458200-70458400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr7:70458200-70458400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:70458400-70459200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:70459000-70459600	Enhancers	Fetal Stomach	stomach

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