Variant report

Variant	nsv527501
Chromosome Location	chr7:71533900-71550079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:71544603..71546705-chr7:71548451..71549976,2	K562	blood:
2	chr7:71336149..71336845-chr7:71534184..71534711,2	MCF-7	breast:
3	chr7:71549650..71551366-chr7:71562854..71564713,2	K562	blood:
4	chr7:71318085..71319740-chr7:71534697..71536684,2	K562	blood:
5	chr7:71526544..71528574-chr7:71533413..71536214,2	K562	blood:
6	chr7:71544603..71546705-chr7:71548451..71549976,2	K562	blood:

Extended variants
information (count: 722 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4717626	chr7:71533900-71533901	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539950520	chr7:71533934-71533935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114723288	chr7:71533937-71533938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138932650	chr7:71533952-71533953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149436743	chr7:71533954-71533955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192589763	chr7:71533960-71533961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563024331	chr7:71533983-71533984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533706085	chr7:71533994-71533995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143426854	chr7:71534003-71534004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115613703	chr7:71534032-71534033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147983624	chr7:71534077-71534078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142406243	chr7:71534097-71534098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567802757	chr7:71534131-71534132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538230177	chr7:71534133-71534134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75212010	chr7:71534134-71534135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537809951	chr7:71534142-71534143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569030017	chr7:71534165-71534166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565320639	chr7:71534176-71534177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539736897	chr7:71534251-71534252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184375422	chr7:71534315-71534316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74771734	chr7:71534319-71534320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532867654	chr7:71534320-71534321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138618825	chr7:71534327-71534328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141725392	chr7:71534328-71534329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543839986	chr7:71534397-71534398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190197849	chr7:71534431-71534432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578160480	chr7:71534445-71534446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545691569	chr7:71534454-71534455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560619217	chr7:71534479-71534480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527879987	chr7:71534480-71534481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549635445	chr7:71534535-71534536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs844753	chr7:71534558-71534559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs531864262	chr7:71534563-71534564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549872933	chr7:71534580-71534581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116623483	chr7:71534589-71534590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10232045	chr7:71534600-71534601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181898945	chr7:71534604-71534605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566469932	chr7:71534626-71534627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556417193	chr7:71534674-71534675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533723384	chr7:71534676-71534677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184803662	chr7:71534770-71534771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573370672	chr7:71534787-71534788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574388408	chr7:71534816-71534817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111514061	chr7:71534849-71534850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139182419	chr7:71534929-71534930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577567950	chr7:71534948-71534949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189719939	chr7:71535034-71535035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560754006	chr7:71535048-71535049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370957870	chr7:71535078-71535079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180712684	chr7:71535111-71535112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71525800-71538600	Weak transcription	Thymus	Thymus
2	chr7:71527800-71536000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:71531200-71536000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:71533000-71534400	Strong transcription	Fetal Thymus	thymus
5	chr7:71534400-71539000	Weak transcription	Fetal Thymus	thymus
6	chr7:71536000-71536400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:71536000-71536400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:71536000-71538200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:71537800-71539000	Enhancers	Dnd41	blood
10	chr7:71538000-71539000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:71538200-71538400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:71538400-71539400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:71538400-71539400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:71538600-71538800	Strong transcription	Thymus	Thymus
15	chr7:71538800-71539000	ZNF genes & repeats	Thymus	Thymus
16	chr7:71539000-71539400	Strong transcription	Fetal Thymus	thymus
17	chr7:71539000-71540000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:71539000-71540800	Strong transcription	Thymus	Thymus
19	chr7:71539400-71539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:71539400-71540000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:71539400-71540000	Weak transcription	Fetal Thymus	thymus
22	chr7:71539400-71542800	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:71539800-71541200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:71540000-71540600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:71540000-71540800	Genic enhancers	Fetal Thymus	thymus
26	chr7:71540200-71540800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr7:71540600-71541000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr7:71540600-71544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:71540800-71541000	Genic enhancers	Thymus	Thymus
30	chr7:71540800-71544600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:71540800-71545200	Strong transcription	Fetal Thymus	thymus
32	chr7:71541000-71544200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:71541000-71546400	Weak transcription	Thymus	Thymus
34	chr7:71541200-71544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:71542600-71542800	Active TSS	Brain Anterior Caudate	brain
36	chr7:71542600-71543600	Enhancers	Fetal Brain Female	brain
37	chr7:71542800-71543000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr7:71542800-71543200	Enhancers	Brain Hippocampus Middle	brain
39	chr7:71542800-71543600	Enhancers	Brain Germinal Matrix	brain
40	chr7:71542800-71543800	Enhancers	Fetal Brain Male	brain
41	chr7:71543000-71543600	Enhancers	Brain Anterior Caudate	brain
42	chr7:71543200-71545400	Weak transcription	Brain Hippocampus Middle	brain
43	chr7:71543600-71545400	Weak transcription	Brain Anterior Caudate	brain
44	chr7:71544000-71545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:71544000-71545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:71544200-71545400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr7:71544600-71545400	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:71544800-71546000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:71545000-71546000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:71545200-71545400	Enhancers	Brain Germinal Matrix	brain

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