Variant report

Variant	esv2762338
Chromosome Location	chr3:85520915-85577233
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:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:85516644..85518723-chr3:85527589..85529747,2	K562	blood:
2	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
3	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
4	chr3:85522620..85526472-chr3:85527505..85529886,4	K562	blood:
5	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
6	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
7	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
8	chr3:85503835..85505718-chr3:85553016..85554877,3	K562	blood:
9	chr3:85522328..85524379-chr3:85551882..85554402,2	K562	blood:
10	chr3:85518552..85520271-chr3:85524775..85526982,3	K562	blood:
11	chr3:85512384..85516287-chr3:85548853..85551591,3	K562	blood:
12	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
13	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
14	chr3:85522112..85524399-chr3:85525908..85528436,3	K562	blood:
15	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
16	chr3:85528291..85540418-chr3:85548148..85554862,16	K562	blood:
17	chr3:85522112..85524399-chr3:85525908..85528436,3	K562	blood:
18	chr3:85439579..85441215-chr3:85551442..85553756,2	K562	blood:
19	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
20	chr3:85455981..85458898-chr3:85554544..85556051,2	K562	blood:
21	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
22	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
23	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
24	chr3:85461933..85464830-chr3:85550203..85551783,2	K562	blood:
25	chr3:85503980..85505718-chr3:85553016..85554877,2	K562	blood:
26	chr3:85527157..85529788-chr3:85532322..85535724,4	K562	blood:
27	chr3:84994697..84996927-chr3:85551100..85552839,2	K562	blood:
28	chr3:85534090..85536047-chr3:85539153..85540993,2	K562	blood:
29	chr3:85509846..85512397-chr3:85550866..85553089,2	K562	blood:
30	chr3:85520722..85524381-chr3:85549502..85554850,5	K562	blood:
31	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
32	chr3:85531519..85533472-chr3:85537388..85539522,2	K562	blood:
33	chr3:85486960..85489003-chr3:85551718..85553697,2	K562	blood:
34	chr3:84291765..84296920-chr3:85550637..85554814,6	K562	blood:
35	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
36	chr3:85522620..85526472-chr3:85527505..85529886,4	K562	blood:
37	chr3:84609476..84611998-chr3:85551707..85553249,2	K562	blood:
38	chr3:84287116..84289415-chr3:85550323..85553207,2	K562	blood:
39	chr3:85518552..85520271-chr3:85525173..85526982,2	K562	blood:
40	chr3:85525792..85532904-chr3:85548163..85554926,11	K562	blood:
41	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
42	chr3:85495270..85496821-chr3:85554377..85556655,2	K562	blood:
43	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
44	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
45	chr3:85512744..85515419-chr3:85552866..85554640,2	K562	blood:
46	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
47	chr3:85500332..85501905-chr3:85547491..85549616,2	K562	blood:
48	chr3:85487121..85488806-chr3:85536380..85538383,2	K562	blood:
49	chr3:85510932..85513927-chr3:85533761..85535530,2	K562	blood:
50	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:

No data

Extended variants
information (count: 1697 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1697 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572041697	chr3:85520959-85520960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201813294	chr3:85520967-85520968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144888873	chr3:85520968-85520969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35376282	chr3:85520970-85520971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397990413	chr3:85520972-85520973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1155666	chr3:85521017-85521018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12638154	chr3:85521057-85521058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115764990	chr3:85521068-85521069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538235524	chr3:85521118-85521119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181592385	chr3:85521123-85521124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17448879	chr3:85521125-85521126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536370285	chr3:85521132-85521133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185971422	chr3:85521297-85521298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554295325	chr3:85521335-85521336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79528523	chr3:85521338-85521339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566065260	chr3:85521351-85521352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12636028	chr3:85521415-85521416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561413049	chr3:85521438-85521439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111403242	chr3:85521539-85521540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115652672	chr3:85521540-85521541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76605790	chr3:85521555-85521556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542316757	chr3:85521609-85521610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146452473	chr3:85521677-85521678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369263541	chr3:85521681-85521682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528269011	chr3:85521692-85521693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190430483	chr3:85521696-85521697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140852356	chr3:85521697-85521698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183424858	chr3:85521754-85521755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115282387	chr3:85521755-85521756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568840403	chr3:85521781-85521782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535907944	chr3:85521809-85521810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555288571	chr3:85521821-85521822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10865609	chr3:85521875-85521876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76731097	chr3:85521923-85521924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534373639	chr3:85521926-85521927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534569502	chr3:85521971-85521972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62250717	chr3:85521990-85521991	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577585140	chr3:85521999-85522000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370394945	chr3:85522049-85522050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186242589	chr3:85522065-85522066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374195923	chr3:85522096-85522097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556243705	chr3:85522119-85522120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75390068	chr3:85522131-85522132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541907544	chr3:85522134-85522135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148829635	chr3:85522144-85522145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527815833	chr3:85522174-85522175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540006940	chr3:85522230-85522231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564762004	chr3:85522255-85522256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143591598	chr3:85522373-85522374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550862758	chr3:85522396-85522397	Weak transcription Enhancers	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	chr3:85512600-85522400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr3:85513000-85526000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:85519200-85536800	Weak transcription	Fetal Brain Male	brain
4	chr3:85520600-85522000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:85521800-85522600	Enhancers	Brain Anterior Caudate	brain
6	chr3:85521800-85523000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:85522000-85522200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:85522200-85522800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:85522400-85522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:85522400-85522600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:85522400-85522600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:85522600-85523400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:85522600-85530600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr3:85522800-85523800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:85523000-85523400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:85523400-85523600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:85523400-85523600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:85523600-85524800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:85523600-85530600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:85524400-85525200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:85525200-85525400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:85525200-85527600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:85525200-85530600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:85525800-85526800	Enhancers	Brain Hippocampus Middle	brain
25	chr3:85525800-85527000	Enhancers	Fetal Heart	heart
26	chr3:85526000-85526200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:85526000-85526800	Enhancers	HSMMtube	muscle
28	chr3:85526200-85526800	Active TSS	Psoas Muscle	Psoas
29	chr3:85526200-85526800	Active TSS	Right Atrium	heart
30	chr3:85526600-85526800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:85526800-85530600	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:85526800-85530600	Weak transcription	Psoas Muscle	Psoas
33	chr3:85527600-85528000	Active TSS	Osteobl	bone
34	chr3:85527600-85530400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:85527800-85530400	Weak transcription	Brain Substantia Nigra	brain
36	chr3:85528000-85530600	Weak transcription	Osteobl	bone
37	chr3:85528200-85530800	Weak transcription	Brain Anterior Caudate	brain
38	chr3:85528600-85528800	Enhancers	Brain Angular Gyrus	brain
39	chr3:85528600-85529000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:85528800-85530600	Weak transcription	Brain Angular Gyrus	brain
41	chr3:85530400-85530600	Enhancers	Brain Substantia Nigra	brain
42	chr3:85530400-85531400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:85530600-85530800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:85530600-85530800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:85530600-85530800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr3:85530600-85530800	Flanking Active TSS	Osteobl	bone
47	chr3:85530600-85531000	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr3:85530600-85531000	Active TSS	HSMM	muscle
49	chr3:85530600-85531400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:85530600-85531400	Enhancers	Cortex derived primary cultured neurospheres	brain

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