Variant report

Variant	nsv998829
Chromosome Location	chr3:85449960-85641099
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:99)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
2	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
3	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
4	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
5	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
6	chr3:85468729..85471491-chr3:85479728..85483045,3	K562	blood:
7	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
8	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
9	chr3:85516644..85518723-chr3:85527589..85529747,2	K562	blood:
10	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
11	chr3:85453248..85455514-chr3:85462247..85464334,2	K562	blood:
12	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
13	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
14	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
15	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
16	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
17	chr3:85493785..85495457-chr3:85500033..85502991,2	K562	blood:
18	chr3:85476815..85480076-chr3:85489792..85493283,3	K562	blood:
19	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
20	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
21	chr3:85493785..85495457-chr3:85500033..85502991,2	K562	blood:
22	chr3:85510863..85513429-chr3:85513950..85516943,2	MCF-7	breast:
23	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
24	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
25	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
26	chr3:85476815..85480076-chr3:85489792..85493283,3	K562	blood:
27	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
28	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
29	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
30	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
31	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
32	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
33	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
34	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
35	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
36	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
37	chr3:85409636..85410536-chr3:85624933..85625875,2	MCF-7	breast:
38	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
39	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
40	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
41	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
42	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
43	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:
44	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
45	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
46	chr3:85518552..85520271-chr3:85524775..85526982,3	K562	blood:
47	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
48	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:
49	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
50	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:

No data

Extended variants
information (count: 4768 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:4768 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562222526	chr3:85449968-85449969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574407864	chr3:85450043-85450044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1465716	chr3:85450068-85450069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559788208	chr3:85450076-85450077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533413443	chr3:85450138-85450139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77342679	chr3:85450175-85450176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551575645	chr3:85450189-85450190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150203527	chr3:85450192-85450193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1000537	chr3:85450237-85450238	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531385404	chr3:85450302-85450303	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs73845485	chr3:85450323-85450324	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187124053	chr3:85450356-85450357	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs567982664	chr3:85450391-85450392	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372083644	chr3:85450426-85450427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143267489	chr3:85450450-85450451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565331571	chr3:85450481-85450482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192336351	chr3:85450488-85450489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147538200	chr3:85450597-85450598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576115025	chr3:85450611-85450612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576569835	chr3:85450660-85450661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9854583	chr3:85450705-85450706	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189528740	chr3:85450724-85450725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542350328	chr3:85450735-85450736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562017391	chr3:85450753-85450754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574337785	chr3:85450783-85450784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73136775	chr3:85450805-85450806	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs193226629	chr3:85450821-85450822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9854888	chr3:85450844-85450845	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185476092	chr3:85450845-85450846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563605054	chr3:85450853-85450854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531052245	chr3:85450865-85450866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113747152	chr3:85450897-85450898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111429459	chr3:85450907-85450908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561546340	chr3:85450945-85450946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189599944	chr3:85450951-85450952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180831913	chr3:85450954-85450955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144012696	chr3:85450974-85450975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147160040	chr3:85450993-85450994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551378461	chr3:85451011-85451012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185666979	chr3:85451022-85451023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77267110	chr3:85451051-85451052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188373266	chr3:85451189-85451190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62250661	chr3:85451194-85451195	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181569187	chr3:85451205-85451206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533285828	chr3:85451266-85451267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114104600	chr3:85451355-85451356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549682190	chr3:85451374-85451375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545043050	chr3:85451487-85451488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569849381	chr3:85451539-85451540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370032596	chr3:85451592-85451593	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:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85416200-85450200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85446600-85450200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:85448600-85450200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:85450200-85450400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
5	chr3:85450200-85450400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:85450200-85450400	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:85450200-85450800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:85450400-85450600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:85450400-85452400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:85450400-85457800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:85450800-85451200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:85470200-85470800	Enhancers	Brain Germinal Matrix	brain
13	chr3:85470200-85471000	Enhancers	Fetal Brain Female	brain
14	chr3:85470400-85475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:85472200-85472800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr3:85472800-85473200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:85475400-85475600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:85476400-85477000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:85481200-85482000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:85482000-85482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:85482400-85482800	Enhancers	Fetal Lung	lung
22	chr3:85482400-85483000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:85482600-85482800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:85485600-85486600	Enhancers	Brain Substantia Nigra	brain
25	chr3:85486000-85486600	Enhancers	Brain Hippocampus Middle	brain
26	chr3:85486200-85486800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:85503800-85504000	Enhancers	Brain Anterior Caudate	brain
28	chr3:85503800-85504800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:85504000-85504600	Weak transcription	Brain Anterior Caudate	brain
30	chr3:85504600-85505000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr3:85504600-85505000	Enhancers	Brain Germinal Matrix	brain
32	chr3:85504600-85505400	Enhancers	Brain Anterior Caudate	brain
33	chr3:85504800-85505000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:85504800-85505200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:85507200-85507800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:85507600-85508000	Enhancers	Brain Substantia Nigra	brain
37	chr3:85507800-85512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:85508200-85509200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr3:85508400-85508600	Enhancers	Psoas Muscle	Psoas
40	chr3:85508600-85509800	Weak transcription	Psoas Muscle	Psoas
41	chr3:85509800-85510000	Enhancers	Psoas Muscle	Psoas
42	chr3:85510000-85510200	Weak transcription	Psoas Muscle	Psoas
43	chr3:85512000-85512600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:85512000-85512600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:85512200-85512600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:85512200-85512600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:85512200-85513000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:85512600-85522400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:85513000-85526000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:85517400-85518200	Enhancers	K562	blood

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