Variant report

Variant	nsv1017390
Chromosome Location	chr7:69339404-69406232
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69399373..69401359-chr7:69403771..69405958,2	K562	blood:
2	chr7:69362288..69364845-chr7:69376146..69378504,2	MCF-7	breast:
3	chr7:69362288..69364845-chr7:69376146..69378504,2	MCF-7	breast:
4	chr7:68868267..68868830-chr7:69396795..69397420,2	MCF-7	breast:
5	chr7:66836557..66837060-chr7:69396635..69397168,2	K562	blood:
6	chr7:69382134..69383940-chr7:69390397..69392877,2	K562	blood:
7	chr7:69333993..69336965-chr7:69341808..69343706,2	MCF-7	breast:
8	chr7:69334524..69336993-chr7:69356452..69358911,2	MCF-7	breast:
9	chr7:67090035..67090810-chr7:69396778..69397635,2	K562	blood:
10	chr7:66842914..66843798-chr7:69396772..69397448,2	MCF-7	breast:
11	chr7:69399373..69401359-chr7:69403771..69405958,2	K562	blood:
12	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
13	chr7:69392216..69395197-chr8:71487916..71489899,2	MCF-7	breast:
14	chr7:68868001..68868754-chr7:69358735..69359601,3	MCF-7	breast:
15	chr7:66843281..66844030-chr7:69396720..69397270,2	MCF-7	breast:
16	chr7:69382134..69383940-chr7:69390397..69392877,2	K562	blood:

No data

Extended variants
information (count: 2241 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2241 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147231683	chr7:69339432-69339433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140589951	chr7:69339480-69339481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535770644	chr7:69339495-69339496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554098336	chr7:69339541-69339542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575761682	chr7:69339643-69339644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115990166	chr7:69339656-69339657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537142059	chr7:69339668-69339669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558416468	chr7:69339701-69339702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576947463	chr7:69339707-69339708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113714410	chr7:69339732-69339733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553218495	chr7:69339740-69339741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114738441	chr7:69339783-69339784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532107695	chr7:69339785-69339786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542146537	chr7:69339805-69339806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187893840	chr7:69339858-69339859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530966328	chr7:69339874-69339875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546273378	chr7:69339909-69339910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192062306	chr7:69339931-69339932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376435347	chr7:69339976-69339977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528668047	chr7:69339981-69339982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551755692	chr7:69340022-69340023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546853122	chr7:69340100-69340101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369566394	chr7:69340133-69340134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568320521	chr7:69340189-69340190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529507191	chr7:69340290-69340291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550904686	chr7:69340291-69340292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569307607	chr7:69340359-69340360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536676499	chr7:69340491-69340492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558606633	chr7:69340519-69340520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570418898	chr7:69340535-69340536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534736825	chr7:69340552-69340553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183379360	chr7:69340580-69340581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189084585	chr7:69340620-69340621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372883695	chr7:69340628-69340629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193004662	chr7:69340634-69340635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569706281	chr7:69340666-69340667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565380404	chr7:69340673-69340674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528087572	chr7:69340678-69340679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530592630	chr7:69340687-69340688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78537139	chr7:69340697-69340698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375631285	chr7:69340732-69340733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144449552	chr7:69340737-69340738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370154761	chr7:69340767-69340768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62458776	chr7:69340835-69340836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs144529965	chr7:69340969-69340970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58612213	chr7:69340983-69340984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183702337	chr7:69341074-69341075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186549416	chr7:69341076-69341077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148434985	chr7:69341079-69341080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550841130	chr7:69341081-69341082	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
Basal cell lymphoma	21115979	CNVD
Glioma	20126413	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69337400-69345000	Weak transcription	Fetal Brain Female	brain
3	chr7:69337400-69345200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:69337600-69343200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:69337600-69345600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:69337600-69354600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:69337800-69345000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:69338000-69339600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:69338400-69344600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:69338400-69344600	Weak transcription	GM12878-XiMat	blood
11	chr7:69338400-69350600	Weak transcription	Brain Anterior Caudate	brain
12	chr7:69338400-69367200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:69338600-69342400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:69338600-69345000	Weak transcription	Thymus	Thymus
15	chr7:69338800-69341800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:69339000-69339800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:69339200-69342400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:69339200-69343400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:69339200-69344600	Weak transcription	Fetal Thymus	thymus
20	chr7:69339400-69339600	Enhancers	K562	blood
21	chr7:69339400-69340000	Enhancers	Ovary	ovary
22	chr7:69339400-69344400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr7:69339800-69343000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:69340000-69342800	Weak transcription	Ovary	ovary
25	chr7:69341800-69342800	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:69342400-69342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:69342400-69343600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:69342800-69343000	Enhancers	Ovary	ovary
29	chr7:69342800-69343200	Enhancers	Lung	lung
30	chr7:69342800-69343200	Enhancers	Spleen	Spleen
31	chr7:69342800-69343600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr7:69342800-69344000	Enhancers	Left Ventricle	heart
33	chr7:69342800-69344800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:69342800-69345600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:69343000-69343200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:69343000-69343200	Enhancers	Right Ventricle	heart
37	chr7:69343000-69344000	Enhancers	Brain Germinal Matrix	brain
38	chr7:69343200-69343800	Weak transcription	Right Ventricle	heart
39	chr7:69343200-69344000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:69343200-69345200	Weak transcription	Fetal Brain Male	brain
41	chr7:69343400-69343600	Enhancers	Brain Angular Gyrus	brain
42	chr7:69343400-69344000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:69343600-69344000	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:69343600-69344800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:69343600-69350400	Weak transcription	Brain Substantia Nigra	brain
46	chr7:69343600-69354200	Weak transcription	Brain Angular Gyrus	brain
47	chr7:69344000-69345200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:69344000-69345200	Weak transcription	Brain Germinal Matrix	brain
49	chr7:69344000-69354800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:69344400-69345200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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