Variant report

Variant	nsv999312
Chromosome Location	chr3:89897811-90030878
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:89147543..89148341-chr3:89900953..89901507,2	MCF-7	breast:
2	chr3:89954956..89957239-chr3:89973715..89976586,2	MCF-7	breast:
3	chr3:88690038..88690583-chr3:89901209..89901840,2	MCF-7	breast:
4	chr3:90001450..90003026-chr3:90006244..90008333,2	MCF-7	breast:
5	chr3:90001450..90003026-chr3:90006244..90008333,2	MCF-7	breast:
6	chr3:89163095..89164119-chr3:89900902..89901799,5	MCF-7	breast:
7	chr3:89611023..89612234-chr3:89900845..89901820,5	MCF-7	breast:
8	chr3:89996606..89997218-chr3:90142348..90142978,2	MCF-7	breast:
9	chr3:89996325..89997175-chr3:90140367..90141418,4	MCF-7	breast:
10	chr3:89996596..89997810-chr3:90140377..90141392,6	MCF-7	breast:
11	chr3:89900833..89901811-chr3:90140473..90141334,4	MCF-7	breast:
12	chr3:88252675..88253298-chr3:89900974..89901665,3	MCF-7	breast:
13	chr3:89954956..89957239-chr3:89973715..89976586,2	MCF-7	breast:

No data

Extended variants
information (count: 3993 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3993 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541382420	chr3:89899808-89899809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559706820	chr3:89899832-89899833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563344494	chr3:89899852-89899853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199555687	chr3:89899871-89899872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12489413	chr3:89899887-89899888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545313413	chr3:89899924-89899925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7628770	chr3:89899953-89899954	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369489717	chr3:89899979-89899980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112157765	chr3:89899995-89899996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548837046	chr3:89900027-89900028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567317979	chr3:89900066-89900067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190774473	chr3:89900082-89900083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564453868	chr3:89900121-89900122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369099041	chr3:89900122-89900123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546526649	chr3:89900144-89900145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528562140	chr3:89900183-89900184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566045146	chr3:89900184-89900185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549315170	chr3:89900228-89900229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148958839	chr3:89900234-89900235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184219153	chr3:89900241-89900242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73846288	chr3:89900304-89900305	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569945072	chr3:89900415-89900416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377706047	chr3:89900441-89900442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7617822	chr3:89900478-89900479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs555596987	chr3:89900525-89900526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574052108	chr3:89900530-89900531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534717815	chr3:89900571-89900572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143526466	chr3:89900598-89900599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578066477	chr3:89900602-89900603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545349744	chr3:89900644-89900645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138126259	chr3:89900710-89900711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575362618	chr3:89900719-89900720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143722177	chr3:89900759-89900760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560821254	chr3:89900795-89900796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147231359	chr3:89900800-89900801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547592398	chr3:89900823-89900824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546371084	chr3:89900833-89900834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61441662	chr3:89900834-89900835	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34963475	chr3:89900849-89900850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531961340	chr3:89900853-89900854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138638327	chr3:89900935-89900936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569982504	chr3:89900941-89900942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188622710	chr3:89901046-89901047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569571126	chr3:89901056-89901057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141170152	chr3:89901073-89901074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115492500	chr3:89901079-89901080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6774114	chr3:89901080-89901081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs58334983	chr3:89901101-89901102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200235295	chr3:89901102-89901103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553481309	chr3:89901103-89901104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89899800-89901000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:89900200-89900800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:89900200-89900800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:89900200-89901600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:89900200-89901600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:89900400-89900600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr3:89900400-89900800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:89900400-89901200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:89900400-89901600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:89900600-89901000	Enhancers	NHDF-Ad	bronchial
11	chr3:89900600-89908800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:89900800-89902800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:89900800-89908800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:89901000-89901400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:89901200-89901800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:89901600-89908800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:89901600-89908800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:89901800-89908800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:89902800-89903000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:89905800-89906200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:89906200-89908200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:89908200-89909000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:89908200-89909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:89908400-89908800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:89908400-89908800	Enhancers	HSMMtube	muscle
26	chr3:89908400-89909000	Enhancers	NHDF-Ad	bronchial
27	chr3:89908400-89909200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:89908400-89909200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:89908400-89910000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:89908800-89909000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:89908800-89909000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:89908800-89909000	Enhancers	Brain Anterior Caudate	brain
33	chr3:89908800-89909200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:89908800-89909200	Enhancers	HSMM	muscle
35	chr3:89908800-89909200	Flanking Active TSS	HSMMtube	muscle
36	chr3:89908800-89909400	Enhancers	Brain Substantia Nigra	brain
37	chr3:89908800-89909800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:89908800-89909800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:89908800-89909800	Enhancers	Brain Hippocampus Middle	brain
40	chr3:89908800-89910000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:89908800-89910200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:89908800-89910400	Enhancers	Brain Germinal Matrix	brain
43	chr3:89909000-89909400	Active TSS	Brain Anterior Caudate	brain
44	chr3:89909200-89910000	Enhancers	HSMMtube	muscle
45	chr3:89910000-89910200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:89910200-89910600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:89916200-89916600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:89923800-89924200	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr3:89928800-89929600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:89930200-89930400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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