Variant report

Variant	nsv1023496
Chromosome Location	chr7:71593461-71633053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:71586492..71588717-chr7:71593112..71596072,2	K562	blood:
2	chr7:71628262..71630650-chr7:71934094..71936911,2	K562	blood:
3	chr7:71593896..71596339-chr7:71598361..71599867,2	K562	blood:
4	chr7:71593896..71596339-chr7:71598361..71599867,2	K562	blood:

Extended variants
information (count: 1789 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1789 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11974003	chr7:71593461-71593462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548316507	chr7:71593463-71593464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577916037	chr7:71593479-71593480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371334888	chr7:71593520-71593521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569872160	chr7:71593533-71593534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182346580	chr7:71593557-71593558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560331033	chr7:71593596-71593597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530797459	chr7:71593629-71593630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542338422	chr7:71593630-71593631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560503307	chr7:71593653-71593654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531219623	chr7:71593654-71593655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112515867	chr7:71593667-71593668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549403694	chr7:71593672-71593673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542498282	chr7:71593708-71593709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368388148	chr7:71593749-71593750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532870426	chr7:71593754-71593755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372415457	chr7:71593792-71593793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562251604	chr7:71593812-71593813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548705495	chr7:71593816-71593817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187782760	chr7:71593837-71593838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111287107	chr7:71593853-71593854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537439428	chr7:71593860-71593861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs80138918	chr7:71593890-71593891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143982189	chr7:71593903-71593904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533818482	chr7:71593906-71593907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193255130	chr7:71593957-71593958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368273060	chr7:71593963-71593964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530377525	chr7:71594116-71594117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148662076	chr7:71594123-71594124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572206929	chr7:71594126-71594127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183254121	chr7:71594145-71594146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372843161	chr7:71594180-71594181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112414985	chr7:71594181-71594182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575782340	chr7:71594263-71594264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550184589	chr7:71594289-71594290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576720811	chr7:71594323-71594324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570180039	chr7:71594353-71594354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542995123	chr7:71594371-71594372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543331042	chr7:71594376-71594377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188625195	chr7:71594381-71594382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532662600	chr7:71594391-71594392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546409518	chr7:71594395-71594396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374123194	chr7:71594410-71594411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548092113	chr7:71594415-71594416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559645372	chr7:71594422-71594423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530327643	chr7:71594423-71594424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548846318	chr7:71594433-71594434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146266812	chr7:71594436-71594437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377212189	chr7:71594444-71594445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560120006	chr7:71594445-71594446	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71581600-71594600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71588200-71596000	Weak transcription	Fetal Thymus	thymus
3	chr7:71588200-71603800	Weak transcription	Thymus	Thymus
4	chr7:71592800-71595000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:71595000-71595600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:71596200-71596400	ZNF genes & repeats	Fetal Thymus	thymus
7	chr7:71596800-71598800	Weak transcription	Fetal Thymus	thymus
8	chr7:71598800-71600200	Strong transcription	Fetal Thymus	thymus
9	chr7:71599000-71599200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:71600000-71604000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:71600200-71606400	Weak transcription	Fetal Thymus	thymus
12	chr7:71602600-71602800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr7:71602800-71606400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:71603800-71604800	Enhancers	Thymus	Thymus
15	chr7:71604000-71605400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:71605400-71605800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:71605400-71606400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:71605800-71606000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:71606000-71607000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr7:71606000-71607000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:71606400-71607000	Strong transcription	Fetal Thymus	thymus
22	chr7:71606400-71607600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
23	chr7:71606800-71607800	ZNF genes & repeats	Thymus	Thymus
24	chr7:71607000-71607200	Weak transcription	Fetal Thymus	thymus
25	chr7:71607000-71607800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:71607200-71607800	ZNF genes & repeats	Fetal Thymus	thymus
27	chr7:71607400-71607800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:71607600-71617600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:71607800-71616600	Weak transcription	Thymus	Thymus
30	chr7:71612000-71616600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:71614000-71614200	ZNF genes & repeats	Fetal Thymus	thymus
32	chr7:71614200-71614600	Enhancers	Brain Hippocampus Middle	brain
33	chr7:71614200-71616000	Weak transcription	Fetal Thymus	thymus
34	chr7:71614600-71615000	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:71614600-71615000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:71614600-71619600	Enhancers	Brain Anterior Caudate	brain
37	chr7:71614600-71619800	Enhancers	Brain Substantia Nigra	brain
38	chr7:71614800-71617200	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:71614800-71617400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr7:71615000-71616600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:71615000-71617400	Enhancers	Brain Hippocampus Middle	brain
42	chr7:71615400-71619000	Enhancers	Pancreas	Pancrea
43	chr7:71615400-71619600	Enhancers	Brain Angular Gyrus	brain
44	chr7:71615800-71616200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr7:71615800-71616200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:71615800-71616800	ZNF genes & repeats	Dnd41	blood
47	chr7:71616000-71619200	Enhancers	Fetal Thymus	thymus
48	chr7:71616600-71617400	Enhancers	Thymus	Thymus
49	chr7:71616600-71618800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:71616600-71619200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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