Variant report

Variant	nsv536652
Chromosome Location	chr3:94769139-94854973
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:94840742..94842445-chr3:94846541..94849507,2	K562	blood:
2	chr3:94852529..94855191-chr3:94858249..94861078,2	MCF-7	breast:
3	chr3:94776805..94778652-chr3:94799142..94801105,2	K562	blood:
4	chr3:94806462..94808177-chr3:94814453..94816989,2	K562	blood:
5	chr3:94817887..94820811-chr3:94823727..94825470,2	MCF-7	breast:
6	chr3:94776805..94778652-chr3:94799142..94801105,2	K562	blood:
7	chr3:94790247..94791777-chr3:94793265..94795089,2	MCF-7	breast:
8	chr3:94806462..94808177-chr3:94814453..94816989,2	K562	blood:
9	chr3:94790247..94791777-chr3:94793265..94795089,2	MCF-7	breast:
10	chr3:94817887..94820811-chr3:94823727..94825470,2	MCF-7	breast:
11	chr3:94817300..94819086-chr3:94851388..94853327,2	K562	blood:
12	chr3:94817300..94819086-chr3:94851388..94853327,2	K562	blood:
13	chr3:94840742..94842445-chr3:94846541..94849507,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSUN3-1	chr3:94807002-94807138	NONHSAT090743
2	lnc-NSUN3-1	chr3:94807002-94807138	ENSG00000239589

No data

Extended variants
information (count: 853 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:853 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544954295	chr3:94774003-94774004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549442219	chr3:94774011-94774012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565160344	chr3:94774014-94774015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553523561	chr3:94774022-94774023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193082234	chr3:94774066-94774067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77127025	chr3:94774071-94774072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560873044	chr3:94774078-94774079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184803226	chr3:94774161-94774162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138531820	chr3:94774162-94774163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546760154	chr3:94774176-94774177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372082149	chr3:94774177-94774178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138639417	chr3:94774193-94774194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141896664	chr3:94774197-94774198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145556130	chr3:94774271-94774272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58310703	chr3:94774301-94774302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74915333	chr3:94774303-94774304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567729214	chr3:94774304-94774305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568156764	chr3:94774310-94774311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534012389	chr3:94774312-94774313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562808270	chr3:94774351-94774352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs137935916	chr3:94774371-94774372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575229286	chr3:94774376-94774377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149453192	chr3:94774410-94774411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538794224	chr3:94774460-94774461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9850418	chr3:94774470-94774471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575448975	chr3:94774490-94774491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143853787	chr3:94774523-94774524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116267555	chr3:94774558-94774559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574521828	chr3:94774559-94774560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188093625	chr3:94774604-94774605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564761086	chr3:94774641-94774642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13067978	chr3:94774673-94774674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs532114828	chr3:94774709-94774710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540786188	chr3:94774719-94774720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117954524	chr3:94774793-94774794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531874679	chr3:94774822-94774823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548503849	chr3:94774825-94774826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200206336	chr3:94774841-94774842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76499303	chr3:94774843-94774844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397877297	chr3:94774849-94774850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191349001	chr3:94774855-94774856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372199918	chr3:94774865-94774866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568091711	chr3:94774893-94774894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533905965	chr3:94774904-94774905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547490654	chr3:94774929-94774930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570884850	chr3:94774931-94774932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539554416	chr3:94774944-94774945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183882890	chr3:94774946-94774947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9830733	chr3:94774997-94774998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538124732	chr3:94775005-94775006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94774000-94774400	Enhancers	Fetal Heart	heart
2	chr3:94774400-94777200	Weak transcription	Fetal Heart	heart
3	chr3:94777200-94778000	Enhancers	Fetal Heart	heart
4	chr3:94831200-94831800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:94831400-94832400	Enhancers	Hela-S3	cervix
6	chr3:94839600-94840600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:94839800-94840200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:94839800-94840400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:94839800-94840600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:94839800-94840600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:94840200-94855200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:94840400-94842200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:94840600-94843400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:94840600-94844000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:94842200-94842400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:94842400-94843000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:94842800-94844000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:94843000-94844000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:94843400-94843600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:94844000-94844200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:94844000-94845800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:94844000-94845800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:94844200-94845800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:94845800-94846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:94845800-94846400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:94845800-94846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:94846200-94849600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:94846800-94847800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:94847800-94848000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:94849600-94850600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:94850600-94853600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:94851800-94852000	Enhancers	Colon Smooth Muscle	Colon
33	chr3:94853000-94854600	Enhancers	Fetal Heart	heart
34	chr3:94853600-94854600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:94853800-94854200	Enhancers	Colon Smooth Muscle	Colon
36	chr3:94853800-94854400	Enhancers	Rectal Smooth Muscle	rectum
37	chr3:94853800-94854600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:94854000-94854400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:94854000-94855000	Enhancers	Skeletal Muscle Male	skeletal muscle

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