Variant report

Variant	nsv888345
Chromosome Location	chr7:71408360-71485245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30851925..30854155-chr7:71462779..71465346,2	MCF-7	breast:
2	chr7:71452826..71454470-chr7:71455028..71457199,2	MCF-7	breast:
3	chr7:71452826..71454470-chr7:71455028..71457199,2	MCF-7	breast:
4	chr7:71430764..71432829-chr7:71445344..71447656,2	K562	blood:
5	chr7:71430764..71432829-chr7:71445344..71447656,2	K562	blood:

Variant related genes	Relation type
ENSG00000204580	chromatin interactions

Extended variants
information (count: 3209 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3209 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10227914	chr7:71408360-71408361	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10273440	chr7:71408382-71408383	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs538101744	chr7:71408397-71408398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555778796	chr7:71408430-71408431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78699527	chr7:71408431-71408432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376304236	chr7:71408436-71408437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369290571	chr7:71408439-71408440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145673669	chr7:71408457-71408458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10258262	chr7:71408460-71408461	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559802527	chr7:71408462-71408463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10258263	chr7:71408466-71408467	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150239789	chr7:71408489-71408490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112603014	chr7:71408490-71408491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531921952	chr7:71408535-71408536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575762084	chr7:71408536-71408537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143744724	chr7:71408548-71408549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554755949	chr7:71408550-71408551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532534910	chr7:71408585-71408586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35461570	chr7:71408592-71408593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372355650	chr7:71408599-71408600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375312124	chr7:71408600-71408601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576639482	chr7:71408624-71408625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545328783	chr7:71408627-71408628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10273829	chr7:71408642-71408643	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs571729355	chr7:71408661-71408662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566199540	chr7:71408664-71408665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10276992	chr7:71408668-71408669	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73187016	chr7:71408678-71408679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573477332	chr7:71408685-71408686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372036168	chr7:71408772-71408773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17137589	chr7:71408781-71408782	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537795678	chr7:71408790-71408791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7808924	chr7:71408814-71408815	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs188784669	chr7:71408821-71408822	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538265303	chr7:71408846-71408847	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192064942	chr7:71408864-71408865	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553325571	chr7:71408866-71408867	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532497548	chr7:71408884-71408885	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572050775	chr7:71408912-71408913	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544321688	chr7:71408948-71408949	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200939436	chr7:71409001-71409002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542668432	chr7:71409025-71409026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554906434	chr7:71409043-71409044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563528829	chr7:71409053-71409054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576576877	chr7:71409083-71409084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544161792	chr7:71409084-71409085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565593464	chr7:71409096-71409097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532434347	chr7:71409120-71409121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184496047	chr7:71409148-71409149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10277368	chr7:71409153-71409154	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71400400-71424400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:71401200-71431000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:71403400-71431000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:71407200-71409200	Strong transcription	Thymus	Thymus
5	chr7:71407400-71409400	Strong transcription	Fetal Thymus	thymus
6	chr7:71408000-71416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:71408000-71430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:71408800-71409000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:71409200-71419400	Weak transcription	Thymus	Thymus
10	chr7:71409400-71430800	Weak transcription	Fetal Thymus	thymus
11	chr7:71416800-71417800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:71416800-71418200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:71417000-71417600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:71417000-71417800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:71417200-71417600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:71417200-71417600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:71417200-71417600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:71417200-71418000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:71417200-71418000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:71418200-71420000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:71419400-71420400	Strong transcription	Thymus	Thymus
22	chr7:71420400-71423400	Weak transcription	Thymus	Thymus
23	chr7:71423400-71424000	Strong transcription	Thymus	Thymus
24	chr7:71424000-71430800	Weak transcription	Thymus	Thymus
25	chr7:71427600-71427800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:71428000-71429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:71428800-71429000	Enhancers	Brain Hippocampus Middle	brain
28	chr7:71428800-71429600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:71429000-71429200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:71429000-71429200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr7:71429000-71429200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:71429000-71429200	Active TSS	Brain Substantia Nigra	brain
33	chr7:71429000-71429400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:71429000-71429400	Enhancers	Brain Angular Gyrus	brain
35	chr7:71429000-71429400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:71429000-71429400	Enhancers	Fetal Brain Female	brain
37	chr7:71429200-71429400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:71429200-71429400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:71429200-71429600	Active TSS	Brain Cingulate Gyrus	brain
40	chr7:71429200-71429600	Active TSS	Brain Hippocampus Middle	brain
41	chr7:71429200-71429600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr7:71429200-71430000	Active TSS	Brain Anterior Caudate	brain
43	chr7:71429400-71429600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:71429400-71429800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr7:71429400-71433000	Weak transcription	Fetal Brain Female	brain
46	chr7:71429600-71429800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:71429600-71429800	Enhancers	Brain Substantia Nigra	brain
48	chr7:71429600-71430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:71429800-71430000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:71429800-71430000	Enhancers	Brain Inferior Temporal Lobe	brain

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