Variant report

Variant	nsv590898
Chromosome Location	chr3:85158733-85243777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:75010074..75010799-chr3:85210133..85210807,2	MCF-7	breast:
2	chr17:56707416..56709502-chr3:85166850..85168946,2	MCF-7	breast:
3	chr14:33567272..33568194-chr3:85240415..85241255,2	MCF-7	breast:
4	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
5	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 2947 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2947 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9875381	chr3:85158733-85158734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576142484	chr3:85158744-85158745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12633050	chr3:85158814-85158815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190390212	chr3:85158865-85158866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9838091	chr3:85158931-85158932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147818841	chr3:85158953-85158954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141374350	chr3:85158955-85158956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533280211	chr3:85158956-85158957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545131972	chr3:85158992-85158993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181191559	chr3:85158998-85158999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111348217	chr3:85159000-85159001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548956502	chr3:85159085-85159086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186972611	chr3:85159086-85159087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528738088	chr3:85159093-85159094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546902059	chr3:85159181-85159182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571779033	chr3:85159188-85159189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538844639	chr3:85159194-85159195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191804621	chr3:85159217-85159218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183926208	chr3:85159331-85159332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368224525	chr3:85159341-85159342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372346131	chr3:85159348-85159349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376091027	chr3:85159378-85159379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569767851	chr3:85159383-85159384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531925176	chr3:85159405-85159406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141259874	chr3:85159408-85159409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572611016	chr3:85159424-85159425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187202411	chr3:85159442-85159443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376688130	chr3:85159444-85159445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555353092	chr3:85159455-85159456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548939691	chr3:85159471-85159472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369070422	chr3:85159497-85159498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375029175	chr3:85159519-85159520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189773773	chr3:85159540-85159541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182310389	chr3:85159543-85159544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541283528	chr3:85159596-85159597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568732792	chr3:85159603-85159604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186578510	chr3:85159615-85159616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369255681	chr3:85159622-85159623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544800429	chr3:85159623-85159624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563481332	chr3:85159640-85159641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530873672	chr3:85159688-85159689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191865714	chr3:85159724-85159725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561308443	chr3:85159753-85159754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528798804	chr3:85159762-85159763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72905235	chr3:85159784-85159785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146985552	chr3:85159819-85159820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532804633	chr3:85159821-85159822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183230164	chr3:85159825-85159826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569768037	chr3:85159826-85159827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188404510	chr3:85159835-85159836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
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
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85151600-85161200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:85153000-85168200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:85161200-85161400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:85163200-85163600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:85164800-85165200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:85167000-85167400	Active TSS	Primary hematopoietic stem cells	blood
7	chr3:85167000-85170400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:85167600-85168400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:85168400-85177600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:85169200-85198600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:85170000-85170400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:85170200-85170600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:85170200-85170600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:85170400-85170800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:85170400-85171200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:85170600-85170800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:85170800-85171800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:85170800-85173000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:85171200-85171600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:85171600-85171800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:85171800-85172200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:85171800-85172200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:85172200-85173000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:85173000-85173400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:85173200-85173400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:85189600-85190000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:85189800-85190600	Enhancers	Fetal Lung	lung
28	chr3:85191200-85191400	Enhancers	Brain Anterior Caudate	brain
29	chr3:85191400-85197200	Weak transcription	Brain Anterior Caudate	brain
30	chr3:85193000-85193400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr3:85193200-85193400	Enhancers	Brain Substantia Nigra	brain
32	chr3:85193400-85197200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:85193400-85197200	Weak transcription	Brain Substantia Nigra	brain
34	chr3:85195800-85196000	Enhancers	Brain Hippocampus Middle	brain
35	chr3:85196000-85197200	Weak transcription	Brain Hippocampus Middle	brain
36	chr3:85197200-85197400	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:85197200-85197400	Enhancers	Stomach Mucosa	stomach
38	chr3:85197200-85197600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:85197200-85197600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr3:85197200-85197600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:85197200-85197800	Enhancers	Brain Angular Gyrus	brain
42	chr3:85197200-85198200	Enhancers	Brain Anterior Caudate	brain
43	chr3:85197200-85198200	Enhancers	Brain Hippocampus Middle	brain
44	chr3:85197200-85198200	Enhancers	Brain Substantia Nigra	brain
45	chr3:85197400-85197600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:85197400-85209600	Weak transcription	Stomach Mucosa	stomach
47	chr3:85197800-85199000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:85198200-85200200	Weak transcription	Brain Substantia Nigra	brain
49	chr3:85198600-85198800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr3:85198800-85199200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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