Variant report

Variant	nsv1002139
Chromosome Location	chr3:85534559-85630146
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:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
2	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
3	chr3:85513919..85516830-chr3:85552866..85555627,2	K562	blood:
4	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
5	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
6	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
7	chr3:85353629..85354290-chr3:85624959..85625479,2	K562	blood:
8	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
9	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
10	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
11	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
12	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
13	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
14	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
15	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
16	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
17	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
18	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
19	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
20	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
21	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
22	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:
23	chr3:85409636..85410536-chr3:85624933..85625875,2	MCF-7	breast:
24	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
25	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
26	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
27	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
28	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
29	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
30	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
31	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
32	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
33	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
34	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
35	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
36	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
37	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
38	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
39	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
40	chr3:85495270..85496821-chr3:85554377..85556655,2	K562	blood:
41	chr3:84994697..84996927-chr3:85551100..85552839,2	K562	blood:
42	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
43	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
44	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
45	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
46	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
47	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
48	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
49	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
50	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:

No data

Extended variants
information (count: 2650 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2650 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181429200	chr3:85534560-85534561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186526090	chr3:85534640-85534641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144490129	chr3:85534645-85534646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12633895	chr3:85534655-85534656	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs561287330	chr3:85534680-85534681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573219534	chr3:85534683-85534684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540703472	chr3:85534684-85534685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140283317	chr3:85534696-85534697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558299129	chr3:85534698-85534699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369218204	chr3:85534735-85534736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373181845	chr3:85534740-85534741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1813696	chr3:85534767-85534768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540652459	chr3:85534784-85534785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370270276	chr3:85534863-85534864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551172473	chr3:85534916-85534917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191588519	chr3:85534942-85534943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530737289	chr3:85534950-85534951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548537771	chr3:85534961-85534962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183495188	chr3:85534971-85534972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567239443	chr3:85535022-85535023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557615456	chr3:85535041-85535042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186310299	chr3:85535043-85535044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546671911	chr3:85535054-85535055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571295775	chr3:85535062-85535063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190771415	chr3:85535075-85535076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374709910	chr3:85535086-85535087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79236293	chr3:85535109-85535110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561195183	chr3:85535125-85535126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73142754	chr3:85535142-85535143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs372896459	chr3:85535147-85535148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555334684	chr3:85535194-85535195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573166653	chr3:85535195-85535196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540312849	chr3:85535240-85535241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115155321	chr3:85535254-85535255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577272163	chr3:85535255-85535256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544779116	chr3:85535286-85535287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138035655	chr3:85535315-85535316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375894704	chr3:85535325-85535326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530654391	chr3:85535388-85535389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548845469	chr3:85535404-85535405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561074973	chr3:85535405-85535406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528080094	chr3:85535430-85535431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201804833	chr3:85535458-85535459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147084463	chr3:85535459-85535460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202134730	chr3:85535464-85535465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200136934	chr3:85535465-85535466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80081800	chr3:85535467-85535468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148943999	chr3:85535475-85535476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115814043	chr3:85535491-85535492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538759346	chr3:85535494-85535495	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:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85519200-85536800	Weak transcription	Fetal Brain Male	brain
2	chr3:85531000-85534600	Weak transcription	HSMM	muscle
3	chr3:85534000-85535400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:85534400-85535200	Enhancers	Osteobl	bone
5	chr3:85534600-85535000	Enhancers	HSMM	muscle
6	chr3:85534800-85535200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:85535000-85535400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:85536600-85537000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr3:85536800-85537000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:85536800-85537000	Enhancers	Fetal Brain Male	brain
11	chr3:85542600-85542800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:85542800-85544400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:85544400-85544800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:85544400-85545600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:85544600-85545400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:85544800-85545000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:85545000-85569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:85550400-85557200	Active TSS	K562	blood
19	chr3:85552800-85554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr3:85553000-85554800	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr3:85553000-85554800	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr3:85553400-85554400	Active TSS	Pancreas	Pancrea
23	chr3:85553600-85554600	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr3:85553800-85554600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:85557200-85558200	Flanking Active TSS	K562	blood
26	chr3:85558200-85566800	Weak transcription	K562	blood
27	chr3:85560400-85561000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:85561200-85561600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr3:85569000-85569200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:85570800-85571200	Active TSS	A549	lung
31	chr3:85574000-85574800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:85574000-85574800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr3:85574800-85575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:85574800-85576000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:85575400-85575600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:85576200-85576400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:85583000-85585400	Enhancers	Fetal Brain Male	brain
38	chr3:85583800-85585200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:85584200-85584800	Enhancers	Brain Anterior Caudate	brain
40	chr3:85584400-85585000	Enhancers	Brain Cingulate Gyrus	brain
41	chr3:85584400-85585200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:85584400-85585400	Enhancers	Brain Substantia Nigra	brain
43	chr3:85584600-85585000	Enhancers	Adipose Nuclei	Adipose
44	chr3:85584600-85585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:85584600-85585200	Enhancers	Brain Angular Gyrus	brain
46	chr3:85584600-85585200	Enhancers	Brain Hippocampus Middle	brain
47	chr3:85584600-85585200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:85584800-85585000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:85584800-85585000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:85584800-85585200	Enhancers	Brain Germinal Matrix	brain

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