Variant report

Variant	nsv1007181
Chromosome Location	chr3:89879377-89926155
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:89892604..89895274-chr3:89895825..89897588,2	MCF-7	breast:
2	chr3:89900833..89901811-chr3:90140473..90141334,4	MCF-7	breast:
3	chr3:89147543..89148341-chr3:89900953..89901507,2	MCF-7	breast:
4	chr3:88252675..88253298-chr3:89900974..89901665,3	MCF-7	breast:
5	chr3:88690038..88690583-chr3:89901209..89901840,2	MCF-7	breast:
6	chr3:89163095..89164119-chr3:89900902..89901799,5	MCF-7	breast:
7	chr3:89892604..89895274-chr3:89895825..89897588,2	MCF-7	breast:
8	chr3:89611023..89612234-chr3:89900845..89901820,5	MCF-7	breast:

No data

Extended variants
information (count: 567 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559813992	chr3:89887697-89887698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562154324	chr3:89887711-89887712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371111635	chr3:89887720-89887721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578013093	chr3:89887727-89887728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577173199	chr3:89887750-89887751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570876503	chr3:89887770-89887771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545388822	chr3:89887784-89887785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544676312	chr3:89887807-89887808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563497327	chr3:89887893-89887894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560226794	chr3:89887918-89887919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530928234	chr3:89887927-89887928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190631838	chr3:89887942-89887943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75743808	chr3:89887963-89887964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528327353	chr3:89887986-89887987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183201988	chr3:89887987-89887988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571338711	chr3:89888089-89888090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538306660	chr3:89888130-89888131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188111125	chr3:89888163-89888164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192322246	chr3:89888164-89888165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535841011	chr3:89888168-89888169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145353671	chr3:89888179-89888180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573961506	chr3:89888185-89888186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534910404	chr3:89888186-89888187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184326690	chr3:89888189-89888190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187810684	chr3:89888202-89888203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545215034	chr3:89888239-89888240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563802121	chr3:89888260-89888261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575738693	chr3:89888263-89888264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543025422	chr3:89888297-89888298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573527964	chr3:89888298-89888299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561181083	chr3:89888316-89888317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574380024	chr3:89888338-89888339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561029809	chr3:89888396-89888397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182087144	chr3:89890024-89890025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551203872	chr3:89890025-89890026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186419852	chr3:89890027-89890028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536835136	chr3:89890032-89890033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139573022	chr3:89890090-89890091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566954599	chr3:89890114-89890115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533955108	chr3:89890123-89890124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558865783	chr3:89890131-89890132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528124372	chr3:89890133-89890134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577072313	chr3:89890169-89890170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6778295	chr3:89890201-89890202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6769826	chr3:89890276-89890277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs191628783	chr3:89890317-89890318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149321504	chr3:89890329-89890330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559833347	chr3:89890361-89890362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572077172	chr3:89890430-89890431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13083420	chr3:89890484-89890485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:66)

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

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89887600-89888400	Enhancers	Duodenum Mucosa	Duodenum
2	chr3:89890000-89890200	Enhancers	Duodenum Mucosa	Duodenum
3	chr3:89890000-89890400	Enhancers	Stomach Mucosa	stomach
4	chr3:89890400-89890800	Weak transcription	Stomach Mucosa	stomach
5	chr3:89890800-89891800	Enhancers	Stomach Mucosa	stomach
6	chr3:89899800-89901000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:89900200-89900800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:89900200-89900800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:89900200-89901600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:89900200-89901600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:89900400-89900600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr3:89900400-89900800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:89900400-89901200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:89900400-89901600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:89900600-89901000	Enhancers	NHDF-Ad	bronchial
16	chr3:89900600-89908800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:89900800-89902800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:89900800-89908800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:89901000-89901400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:89901200-89901800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:89901600-89908800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:89901600-89908800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:89901800-89908800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:89902800-89903000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:89905800-89906200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:89906200-89908200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:89908200-89909000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:89908200-89909200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:89908400-89908800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:89908400-89908800	Enhancers	HSMMtube	muscle
31	chr3:89908400-89909000	Enhancers	NHDF-Ad	bronchial
32	chr3:89908400-89909200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:89908400-89909200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:89908400-89910000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:89908800-89909000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr3:89908800-89909000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:89908800-89909000	Enhancers	Brain Anterior Caudate	brain
38	chr3:89908800-89909200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:89908800-89909200	Enhancers	HSMM	muscle
40	chr3:89908800-89909200	Flanking Active TSS	HSMMtube	muscle
41	chr3:89908800-89909400	Enhancers	Brain Substantia Nigra	brain
42	chr3:89908800-89909800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:89908800-89909800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:89908800-89909800	Enhancers	Brain Hippocampus Middle	brain
45	chr3:89908800-89910000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:89908800-89910200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:89908800-89910400	Enhancers	Brain Germinal Matrix	brain
48	chr3:89909000-89909400	Active TSS	Brain Anterior Caudate	brain
49	chr3:89909200-89910000	Enhancers	HSMMtube	muscle
50	chr3:89910000-89910200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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