Variant report

Variant	nsv536623
Chromosome Location	chr3:85472690-85533487
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85522620..85526472-chr3:85527505..85529886,4	K562	blood:
2	chr3:85518552..85520271-chr3:85524775..85526982,3	K562	blood:
3	chr3:85493785..85495457-chr3:85500033..85502991,2	K562	blood:
4	chr3:85510863..85513429-chr3:85513950..85516943,2	MCF-7	breast:
5	chr3:85518552..85520271-chr3:85525173..85526982,2	K562	blood:
6	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
7	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
8	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
9	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:
10	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
11	chr3:85493785..85495457-chr3:85500033..85502991,2	K562	blood:
12	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
13	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
14	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
15	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
16	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
17	chr3:85518552..85520271-chr3:85525173..85526982,2	K562	blood:
18	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
19	chr3:85522620..85526472-chr3:85527505..85529886,4	K562	blood:
20	chr3:85516644..85518723-chr3:85527589..85529747,2	K562	blood:
21	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
22	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
23	chr3:85518552..85520271-chr3:85524775..85526982,3	K562	blood:
24	chr3:85476815..85480076-chr3:85489792..85493283,3	K562	blood:
25	chr3:85476815..85480076-chr3:85489792..85493283,3	K562	blood:
26	chr3:85468729..85471491-chr3:85479728..85483045,3	K562	blood:
27	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
28	chr3:85508686..85510616-chr3:85515146..85516824,2	K562	blood:
29	chr3:85522112..85524399-chr3:85525908..85528436,3	K562	blood:
30	chr3:85516644..85518723-chr3:85527589..85529747,2	K562	blood:
31	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
32	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
33	chr3:85522112..85524399-chr3:85525908..85528436,3	K562	blood:
34	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
35	chr3:85495270..85496821-chr3:85554377..85556655,2	K562	blood:
36	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
37	chr3:85508686..85510616-chr3:85515146..85516824,2	K562	blood:
38	chr3:85510863..85513429-chr3:85513950..85516943,2	MCF-7	breast:

No data

Extended variants
information (count: 1292 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1292 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193082764	chr3:85472754-85472755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs141358365	chr3:85472775-85472776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs532567703	chr3:85472826-85472827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144645133	chr3:85472890-85472891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533739512	chr3:85472891-85472892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569350929	chr3:85472900-85472901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185724644	chr3:85472916-85472917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113761633	chr3:85472927-85472928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554358342	chr3:85472958-85472959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549166080	chr3:85472990-85472991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375414711	chr3:85472995-85472996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371473694	chr3:85473091-85473092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77430012	chr3:85473111-85473112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553340852	chr3:85473119-85473120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367625916	chr3:85473132-85473133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138608467	chr3:85473140-85473141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200892035	chr3:85473171-85473172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538641666	chr3:85473177-85473178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556738999	chr3:85473230-85473231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575300501	chr3:85473274-85473275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6772991	chr3:85473317-85473318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561137083	chr3:85473337-85473338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115518311	chr3:85473437-85473438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74445352	chr3:85473449-85473450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565529497	chr3:85473482-85473483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74448810	chr3:85473538-85473539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72907239	chr3:85473578-85473579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540339142	chr3:85473608-85473609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550962874	chr3:85473613-85473614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375492678	chr3:85473632-85473633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577559542	chr3:85473645-85473646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531727788	chr3:85473764-85473765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530209604	chr3:85473801-85473802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548743566	chr3:85473861-85473862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371309356	chr3:85473891-85473892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9865745	chr3:85473932-85473933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190630965	chr3:85473940-85473941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546878884	chr3:85473999-85474000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527603594	chr3:85474047-85474048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547242253	chr3:85474119-85474120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571572906	chr3:85474146-85474147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570636674	chr3:85474160-85474161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538207232	chr3:85474207-85474208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115469695	chr3:85474228-85474229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568798336	chr3:85474233-85474234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532842170	chr3:85474241-85474242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536330555	chr3:85474243-85474244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549462867	chr3:85474304-85474305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569456590	chr3:85474307-85474308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573074561	chr3:85474419-85474420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85470400-85475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:85472200-85472800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr3:85472800-85473200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:85475400-85475600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:85476400-85477000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:85481200-85482000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:85482000-85482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:85482400-85482800	Enhancers	Fetal Lung	lung
9	chr3:85482400-85483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:85482600-85482800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:85485600-85486600	Enhancers	Brain Substantia Nigra	brain
12	chr3:85486000-85486600	Enhancers	Brain Hippocampus Middle	brain
13	chr3:85486200-85486800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:85503800-85504000	Enhancers	Brain Anterior Caudate	brain
15	chr3:85503800-85504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:85504000-85504600	Weak transcription	Brain Anterior Caudate	brain
17	chr3:85504600-85505000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:85504600-85505000	Enhancers	Brain Germinal Matrix	brain
19	chr3:85504600-85505400	Enhancers	Brain Anterior Caudate	brain
20	chr3:85504800-85505000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:85504800-85505200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:85507200-85507800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:85507600-85508000	Enhancers	Brain Substantia Nigra	brain
24	chr3:85507800-85512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:85508200-85509200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr3:85508400-85508600	Enhancers	Psoas Muscle	Psoas
27	chr3:85508600-85509800	Weak transcription	Psoas Muscle	Psoas
28	chr3:85509800-85510000	Enhancers	Psoas Muscle	Psoas
29	chr3:85510000-85510200	Weak transcription	Psoas Muscle	Psoas
30	chr3:85512000-85512600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:85512000-85512600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:85512200-85512600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:85512200-85512600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr3:85512200-85513000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:85512600-85522400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:85513000-85526000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:85517400-85518200	Enhancers	K562	blood
38	chr3:85519200-85536800	Weak transcription	Fetal Brain Male	brain
39	chr3:85519400-85519600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:85519800-85520400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:85520400-85520600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:85520600-85522000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:85521800-85522600	Enhancers	Brain Anterior Caudate	brain
44	chr3:85521800-85523000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr3:85522000-85522200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:85522200-85522800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:85522400-85522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:85522400-85522600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:85522400-85522600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:85522600-85523400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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