Variant report

Variant	nsv6008
Chromosome Location	chr7:152563270-152597257
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:2)
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	chr7:152588968..152591150-chr7:152591606..152593343,2	MCF-7	breast:
2	chr7:152592588..152594175-chr7:153102302..153103832,2	K562	blood:
3	chr7:152591144..152592074-chr7:152656414..152657185,2	MCF-7	breast:
4	chr7:152595615..152597304-chr7:152598757..152600318,2	K562	blood:
5	chr7:152588507..152591156-chr7:152595233..152597420,2	K562	blood:
6	chr7:152588968..152591150-chr7:152591606..152593343,2	MCF-7	breast:
7	chr7:152549705..152553175-chr7:152560655..152563362,3	K562	blood:
8	chr7:152588549..152590178-chr7:152590291..152592106,2	K562	blood:
9	chr7:152592469..152595715-chr7:152602520..152605379,3	K562	blood:
10	chr7:152591605..152592124-chr7:153532194..153532836,2	MCF-7	breast:
11	chr7:152556489..152557016-chr7:152591189..152592154,2	K562	blood:
12	chr7:152596836..152599068-chr7:152599641..152602320,2	K562	blood:
13	chr7:152590930..152593024-chr7:152603046..152604985,2	MCF-7	breast:
14	chr7:152595309..152597143-chr7:153102901..153104884,2	K562	blood:
15	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:
16	chr7:152561372..152563644-chr7:152566422..152569176,2	K562	blood:
17	chr7:152561372..152563644-chr7:152566422..152569176,2	K562	blood:
18	chr7:152567221..152568854-chr7:152821734..152824144,2	K562	blood:
19	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:
20	chr7:152588549..152590178-chr7:152590291..152592106,2	K562	blood:
21	chr7:152591184..152592070-chr7:153078454..153079236,2	MCF-7	breast:
22	chr7:152589505..152592233-chr7:153104803..153106680,2	K562	blood:
23	chr7:152588507..152591156-chr7:152595233..152597420,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACTR3B-4	chr7:152584608-152584832	NONHSAT124285
2	lnc-ACTR3B-4	chr7:152583184-152583297	NONHSAT124285

No data

Extended variants
information (count: 1582 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1582 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564341717	chr7:152563345-152563346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528432806	chr7:152563422-152563423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372899822	chr7:152563425-152563426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111462401	chr7:152563454-152563455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568490505	chr7:152563474-152563475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76203319	chr7:152563480-152563481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77195925	chr7:152563481-152563482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141658853	chr7:152563502-152563503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371125422	chr7:152563549-152563550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551013823	chr7:152563552-152563553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150535946	chr7:152563562-152563563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182760850	chr7:152563564-152563565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188855978	chr7:152563584-152563585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374568658	chr7:152563619-152563620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539237349	chr7:152563647-152563648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546594052	chr7:152563655-152563656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534260680	chr7:152563658-152563659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552544467	chr7:152563660-152563661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574861635	chr7:152563700-152563701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542283853	chr7:152563709-152563710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535111695	chr7:152563747-152563748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193279574	chr7:152563753-152563754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77017852	chr7:152563775-152563776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79837734	chr7:152563780-152563781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544498842	chr7:152563842-152563843	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71543503	chr7:152563879-152563880	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188018055	chr7:152563889-152563890	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540488520	chr7:152563897-152563898	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561846316	chr7:152563906-152563907	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142691144	chr7:152563929-152563930	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550721841	chr7:152563936-152563937	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147359817	chr7:152563984-152563985	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191426134	chr7:152564046-152564047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551549931	chr7:152564055-152564056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184198337	chr7:152564066-152564067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112659603	chr7:152564074-152564075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549611409	chr7:152564081-152564082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115559263	chr7:152564099-152564100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535399551	chr7:152564107-152564108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188523609	chr7:152564119-152564120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575292201	chr7:152564120-152564121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535721122	chr7:152564144-152564145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539591728	chr7:152564149-152564150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552909622	chr7:152564150-152564151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557891816	chr7:152564168-152564169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573035365	chr7:152564174-152564175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374795273	chr7:152564214-152564215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76098817	chr7:152564215-152564216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200590265	chr7:152564216-152564217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546755094	chr7:152564233-152564234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152489800-152568800	Weak transcription	Hela-S3	cervix
2	chr7:152510200-152569800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:152527600-152564800	Weak transcription	A549	lung
4	chr7:152539200-152563800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:152541000-152563800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:152541000-152568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:152547200-152563600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:152548400-152564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:152550000-152566600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:152550800-152563600	Weak transcription	Thymus	Thymus
11	chr7:152551800-152564000	Weak transcription	Fetal Intestine Small	intestine
12	chr7:152551800-152566600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:152552000-152564000	Weak transcription	Ovary	ovary
14	chr7:152552000-152564400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:152552000-152565600	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:152552000-152566400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:152552000-152566400	Weak transcription	Fetal Brain Female	brain
18	chr7:152552200-152565800	Weak transcription	HSMMtube	muscle
19	chr7:152552600-152564200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:152553600-152564200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:152553600-152564200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:152553600-152567000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:152553800-152564800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:152553800-152565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:152553800-152565800	Weak transcription	Esophagus	oesophagus
26	chr7:152553800-152566200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:152553800-152568000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:152553800-152568400	Weak transcription	Left Ventricle	heart
29	chr7:152553800-152569000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:152553800-152569400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:152554200-152571000	Weak transcription	Fetal Stomach	stomach
32	chr7:152554600-152563800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:152554600-152564600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:152554600-152569200	Weak transcription	Right Ventricle	heart
35	chr7:152554800-152566000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:152556600-152565800	Weak transcription	Primary T cells from cord blood	blood
37	chr7:152559400-152569000	Weak transcription	Spleen	Spleen
38	chr7:152559600-152568600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:152559800-152563400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:152559800-152564200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:152562400-152574000	Weak transcription	Pancreas	Pancrea
42	chr7:152562600-152573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:152562800-152563400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:152563000-152563600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:152563000-152563800	Weak transcription	Lung	lung
46	chr7:152563000-152565800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:152563000-152566200	Weak transcription	Gastric	stomach
48	chr7:152563000-152568800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:152563000-152569000	Weak transcription	Aorta	Aorta
50	chr7:152563400-152565000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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