Variant report

Variant	nsv1028705
Chromosome Location	chr7:69453983-69524628
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
2	chr7:67257876..67258792-chr7:69506066..69506610,2	MCF-7	breast:
3	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
4	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
5	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
6	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
7	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
8	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:
9	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
10	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
11	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
12	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
13	chr7:69497223..69498827-chr7:75682807..75685073,2	MCF-7	breast:
14	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
15	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
16	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
17	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:
18	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
19	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
20	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
21	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
22	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
23	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146701	chromatin interactions

Extended variants
information (count: 2318 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2318 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557342926	chr7:69454085-69454086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575702332	chr7:69454133-69454134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539794733	chr7:69454138-69454139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557885427	chr7:69454143-69454144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573252510	chr7:69454166-69454167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540404490	chr7:69454242-69454243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145530539	chr7:69454289-69454290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185861124	chr7:69454290-69454291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544493852	chr7:69454300-69454301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562800698	chr7:69454344-69454345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555974084	chr7:69454352-69454353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569212771	chr7:69454401-69454402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149705195	chr7:69454471-69454472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533449172	chr7:69454475-69454476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76033041	chr7:69454482-69454483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575778186	chr7:69454483-69454484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189316939	chr7:69454486-69454487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180937477	chr7:69454510-69454511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35029731	chr7:69454522-69454523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72131308	chr7:69454523-69454524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59679267	chr7:69454524-69454525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74691821	chr7:69454525-69454526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371075606	chr7:69454557-69454558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147702321	chr7:69454567-69454568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142403127	chr7:69454573-69454574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541344068	chr7:69454584-69454585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550807348	chr7:69454601-69454602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17141099	chr7:69454634-69454635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539757820	chr7:69454663-69454664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151237818	chr7:69454668-69454669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78730083	chr7:69454687-69454688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561661277	chr7:69454715-69454716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534295607	chr7:69454721-69454722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377658691	chr7:69454726-69454727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530223540	chr7:69454727-69454728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555621263	chr7:69454765-69454766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140441904	chr7:69454834-69454835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544352612	chr7:69454837-69454838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183689458	chr7:69454838-69454839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577883213	chr7:69454856-69454857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13240866	chr7:69454898-69454899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550396768	chr7:69454911-69454912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564089318	chr7:69454945-69454946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150179842	chr7:69454968-69454969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534826971	chr7:69455013-69455014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188207490	chr7:69455036-69455037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138633748	chr7:69455041-69455042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181386951	chr7:69455042-69455043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552728806	chr7:69455046-69455047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140360697	chr7:69455077-69455078	Weak transcription	n/a	n/a	Overlapped CNVs	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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:892 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69444000-69458000	Weak transcription	Pancreas	Pancrea
2	chr7:69445000-69455400	Weak transcription	Fetal Heart	heart
3	chr7:69447400-69460800	Weak transcription	Psoas Muscle	Psoas
4	chr7:69447800-69456000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:69448600-69459600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:69450200-69459800	Weak transcription	Right Ventricle	heart
7	chr7:69450800-69456200	Weak transcription	Left Ventricle	heart
8	chr7:69450800-69457400	Weak transcription	Thymus	Thymus
9	chr7:69451000-69460000	Weak transcription	Right Atrium	heart
10	chr7:69453400-69454000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:69453400-69454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:69453400-69454200	Enhancers	Fetal Kidney	kidney
13	chr7:69453800-69454400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:69454000-69457800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:69454000-69458000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:69454400-69457800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:69455000-69459600	Weak transcription	Fetal Stomach	stomach
18	chr7:69455000-69460600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:69455400-69455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:69455400-69456000	Enhancers	Fetal Heart	heart
21	chr7:69455600-69455800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:69455800-69470400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:69456000-69459200	Weak transcription	Fetal Heart	heart
24	chr7:69456000-69459200	Enhancers	Fetal Thymus	thymus
25	chr7:69456200-69456400	Enhancers	Left Ventricle	heart
26	chr7:69457400-69459200	Enhancers	Thymus	Thymus
27	chr7:69457600-69458200	Enhancers	Primary B cells from peripheral blood	blood
28	chr7:69457600-69458400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:69457600-69458400	Enhancers	GM12878-XiMat	blood
30	chr7:69457600-69458600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:69457600-69461400	Enhancers	Brain Hippocampus Middle	brain
32	chr7:69457800-69458400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:69457800-69458400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:69457800-69458400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:69457800-69458600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:69457800-69458600	Enhancers	Brain Angular Gyrus	brain
37	chr7:69457800-69458600	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:69457800-69458800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:69457800-69461400	Enhancers	Brain Substantia Nigra	brain
40	chr7:69458000-69458200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:69458000-69458200	Enhancers	Fetal Brain Female	brain
42	chr7:69458000-69458200	Enhancers	Pancreas	Pancrea
43	chr7:69458000-69458400	Enhancers	Primary T cells from cord blood	blood
44	chr7:69458000-69458400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:69458200-69458400	Enhancers	Brain Anterior Caudate	brain
46	chr7:69458200-69458600	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:69458200-69458600	Weak transcription	Pancreas	Pancrea
48	chr7:69458200-69459200	Weak transcription	Fetal Brain Female	brain
49	chr7:69458200-69459800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:69458400-69459600	Weak transcription	Brain Anterior Caudate	brain

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