Variant report

Variant	nsv592854
Chromosome Location	chr3:191395972-191431496
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:191415298..191416937-chr3:191418603..191420214,2	K562	blood:
2	chr3:191401415..191403217-chr3:191403592..191405646,2	K562	blood:
3	chr3:191414615..191416798-chr3:191418714..191420918,2	K562	blood:
4	chr3:191414615..191416798-chr3:191418714..191420918,2	K562	blood:
5	chr3:191401415..191403217-chr3:191403592..191405646,2	K562	blood:
6	chr3:191395265..191397942-chr3:191403159..191405641,2	MCF-7	breast:
7	chr3:191427154..191429836-chr3:191435371..191438311,2	MCF-7	breast:
8	chr3:191415298..191416937-chr3:191418603..191420214,2	K562	blood:
9	chr3:191395265..191397942-chr3:191403159..191405641,2	MCF-7	breast:

No data

Extended variants
information (count: 1156 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1156 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7633696	chr3:191395972-191395973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369467559	chr3:191395980-191395981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182587408	chr3:191395990-191395991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558900193	chr3:191396017-191396018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185406703	chr3:191396099-191396100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116057801	chr3:191396163-191396164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148835574	chr3:191396186-191396187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142509450	chr3:191396187-191396188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115018462	chr3:191396212-191396213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189826098	chr3:191396315-191396316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182171627	chr3:191396369-191396370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536860441	chr3:191396371-191396372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187708591	chr3:191396376-191396377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576128799	chr3:191396399-191396400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545140593	chr3:191396405-191396406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565116918	chr3:191396437-191396438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371639299	chr3:191396452-191396453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78016688	chr3:191396466-191396467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369084652	chr3:191396492-191396493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572429669	chr3:191396510-191396511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111918891	chr3:191396546-191396547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193099726	chr3:191396576-191396577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183933968	chr3:191396586-191396587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13314406	chr3:191396710-191396711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151017582	chr3:191396712-191396713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550399511	chr3:191396718-191396719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140875378	chr3:191396764-191396765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532235907	chr3:191396783-191396784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552278295	chr3:191396803-191396804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146086471	chr3:191396823-191396824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138830791	chr3:191396824-191396825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548147455	chr3:191396963-191396964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75490475	chr3:191396976-191396977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201949875	chr3:191396980-191396981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75881433	chr3:191396983-191396984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536998600	chr3:191397001-191397002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67251952	chr3:191397005-191397006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567127107	chr3:191397007-191397008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71177314	chr3:191397008-191397009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372130446	chr3:191397046-191397047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527981463	chr3:191397115-191397116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576658913	chr3:191397125-191397126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188430050	chr3:191397194-191397195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559029591	chr3:191397195-191397196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192083671	chr3:191397212-191397213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139535983	chr3:191397245-191397246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114031530	chr3:191397258-191397259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184269640	chr3:191397259-191397260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13067394	chr3:191397286-191397287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs116700526	chr3:191397290-191397291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191390800-191406400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:191392200-191404400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:191398600-191399200	Enhancers	Fetal Heart	heart
4	chr3:191399200-191399400	Enhancers	Stomach Mucosa	stomach
5	chr3:191400800-191401400	Enhancers	Ovary	ovary
6	chr3:191401000-191401400	Enhancers	Stomach Mucosa	stomach
7	chr3:191404200-191404800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:191404200-191405000	Enhancers	Fetal Heart	heart
9	chr3:191404400-191404800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:191404400-191404800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:191404400-191404800	Enhancers	HepG2	liver
12	chr3:191404400-191405000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:191404600-191404800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr3:191404600-191404800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:191404600-191404800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:191404600-191404800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:191404600-191404800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:191404800-191406200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:191404800-191406200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:191404800-191406400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:191404800-191406400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:191405000-191406200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:191405000-191406200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:191405800-191406600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr3:191406200-191406400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr3:191406200-191406400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:191406200-191406600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:191406200-191408800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:191406400-191406600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr3:191406400-191406600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr3:191406400-191407200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:191406400-191407200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:191406400-191407400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr3:191406400-191407400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:191406600-191406800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr3:191406600-191406800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr3:191406600-191407200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:191406600-191407200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr3:191406800-191407000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:191406800-191407400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr3:191407000-191407200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr3:191407200-191407600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:191407200-191408400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:191407200-191408800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:191407200-191409600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr3:191407200-191411600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:191407200-191411800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr3:191407400-191408400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:191407400-191409400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:191407400-191409600	Enhancers	HUES48 Cell Line	embryonic stem cell

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