Variant report

Variant	nsv1026161
Chromosome Location	chr7:71623729-71654085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:71642905..71645487-chr7:71655969..71658022,2	K562	blood:
2	chr7:71628262..71630650-chr7:71934094..71936911,2	K562	blood:
3	chr7:71648521..71649566-chr7:71958858..71959802,3	MCF-7	breast:

Extended variants
information (count: 1372 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1372 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563039439	chr7:71623740-71623741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367824279	chr7:71623771-71623772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563624143	chr7:71623874-71623875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185288284	chr7:71623881-71623882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551802353	chr7:71623899-71623900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189400493	chr7:71624017-71624018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377128891	chr7:71624038-71624039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192891325	chr7:71624074-71624075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568138043	chr7:71624140-71624141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143425266	chr7:71624144-71624145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113998146	chr7:71624163-71624164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567838107	chr7:71624175-71624176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189365114	chr7:71624208-71624209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557346741	chr7:71624241-71624242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572539919	chr7:71624256-71624257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540503706	chr7:71624297-71624298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556073206	chr7:71624306-71624307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574140862	chr7:71624345-71624346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180966932	chr7:71624352-71624353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186121796	chr7:71624371-71624372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533487022	chr7:71624415-71624416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111374094	chr7:71624427-71624428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143450793	chr7:71624471-71624472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560485863	chr7:71624489-71624490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527713071	chr7:71624507-71624508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546573199	chr7:71624512-71624513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10241494	chr7:71624548-71624549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149050217	chr7:71624556-71624557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529035584	chr7:71624587-71624588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550776285	chr7:71624619-71624620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568824874	chr7:71624646-71624647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539131995	chr7:71624656-71624657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375504531	chr7:71624676-71624677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566128825	chr7:71624702-71624703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140422542	chr7:71624725-71624726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555741781	chr7:71624739-71624740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368778977	chr7:71624752-71624753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574278017	chr7:71624774-71624775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189411451	chr7:71624810-71624811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529291145	chr7:71624848-71624849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142147001	chr7:71624887-71624888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578232828	chr7:71624890-71624891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150773848	chr7:71624920-71624921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560613113	chr7:71624931-71624932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17352148	chr7:71624987-71624988	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531787225	chr7:71625048-71625049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78123520	chr7:71625160-71625161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536112404	chr7:71625162-71625163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181375212	chr7:71625195-71625196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529206440	chr7:71625201-71625202	Enhancers 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
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71621200-71623800	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr7:71622200-71624000	Enhancers	Fetal Thymus	thymus
3	chr7:71622400-71627800	Weak transcription	Thymus	Thymus
4	chr7:71623000-71623800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:71623200-71623800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:71623800-71624800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:71623800-71624800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:71624000-71625600	Weak transcription	Fetal Thymus	thymus
9	chr7:71624800-71626000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:71624800-71626000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:71625000-71625600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:71625600-71626000	Enhancers	Fetal Thymus	thymus
13	chr7:71626000-71626200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:71626000-71626600	Weak transcription	Fetal Thymus	thymus
15	chr7:71626200-71631000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:71626600-71626800	ZNF genes & repeats	Fetal Thymus	thymus
17	chr7:71626800-71627800	Weak transcription	Fetal Thymus	thymus
18	chr7:71627800-71628200	ZNF genes & repeats	Thymus	Thymus
19	chr7:71627800-71630600	ZNF genes & repeats	Fetal Thymus	thymus
20	chr7:71628000-71629200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:71628200-71629200	Weak transcription	Thymus	Thymus
22	chr7:71629000-71629800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr7:71629200-71631400	ZNF genes & repeats	Thymus	Thymus
24	chr7:71629600-71629800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr7:71630200-71632000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:71630400-71630600	Enhancers	Gastric	stomach
27	chr7:71630600-71632000	Strong transcription	Fetal Thymus	thymus
28	chr7:71631000-71635400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:71631200-71631400	Enhancers	Gastric	stomach
30	chr7:71631400-71636800	Weak transcription	Thymus	Thymus
31	chr7:71632000-71636600	Weak transcription	Fetal Thymus	thymus
32	chr7:71634800-71636800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:71635400-71636000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:71636000-71637000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:71636600-71637400	Strong transcription	Fetal Thymus	thymus
36	chr7:71636800-71637000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:71636800-71637200	Enhancers	Thymus	Thymus
38	chr7:71636800-71637600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr7:71637000-71638000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:71637200-71639600	Weak transcription	Thymus	Thymus
41	chr7:71637400-71640400	Weak transcription	Fetal Thymus	thymus
42	chr7:71639000-71639800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:71639600-71641600	ZNF genes & repeats	Thymus	Thymus
44	chr7:71639800-71640400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:71640400-71641200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:71640400-71642400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:71640400-71643600	Strong transcription	Fetal Thymus	thymus
48	chr7:71640600-71641200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr7:71641200-71642000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:71641200-71686800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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