Variant report

Variant	nsv1001895
Chromosome Location	chr3:476024-506881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:496434..499262-chr3:500586..502601,2	K562	blood:
2	chr3:496434..499262-chr3:500586..502601,2	K562	blood:

Extended variants
information (count: 1194 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1194 , 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	rs116236395	chr3:476202-476203	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs113999175	chr3:476240-476241	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs115900656	chr3:476286-476287	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs111406768	chr3:476323-476324	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs532701234	chr3:476334-476335	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs567136654	chr3:476340-476341	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs370979220	chr3:476342-476343	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs541305425	chr3:476348-476349	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs537706155	chr3:476353-476354	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs191592965	chr3:476367-476368	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs571124152	chr3:476368-476369	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs538660018	chr3:476390-476391	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs151166952	chr3:476414-476415	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs77345546	chr3:476417-476418	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs138544729	chr3:476451-476452	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs183944511	chr3:476460-476461	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs540818244	chr3:476475-476476	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs555955377	chr3:476490-476491	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs188842182	chr3:476507-476508	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs79642377	chr3:476511-476512	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs563210550	chr3:476527-476528	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs143953034	chr3:476532-476533	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs548162121	chr3:476541-476542	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs192628980	chr3:476577-476578	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs377446282	chr3:476598-476599	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs116245590	chr3:476600-476601	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs371203194	chr3:476698-476699	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs569681114	chr3:476766-476767	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs549071084	chr3:476809-476810	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs183714375	chr3:476819-476820	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs572640164	chr3:476831-476832	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs369609267	chr3:476857-476858	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs530817526	chr3:476861-476862	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs549789131	chr3:476913-476914	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs571543972	chr3:476947-476948	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs533868040	chr3:476964-476965	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs534516307	chr3:476980-476981	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs186980080	chr3:477009-477010	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs115463524	chr3:477016-477017	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs147303745	chr3:477018-477019	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs191738887	chr3:477026-477027	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs554725414	chr3:477078-477079	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs552600240	chr3:477083-477084	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs148037685	chr3:477084-477085	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs574116288	chr3:477091-477092	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs373675981	chr3:477099-477100	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs544819514	chr3:477100-477101	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs184795010	chr3:477119-477120	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs578225912	chr3:477124-477125	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs545305994	chr3:477156-477157	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
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
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:476200-476400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
2	chr3:476400-476800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr3:476400-477200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr3:476400-478000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:476600-476800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr3:476600-476800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr3:476600-477000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr3:476600-477000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
9	chr3:476600-477200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
10	chr3:476800-477000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr3:476800-477200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:476800-477200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:476800-477800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:477000-477200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:477800-482200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:478000-479000	Enhancers	Fetal Brain Male	brain
17	chr3:480400-481200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:482200-483200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:491400-492000	ZNF genes & repeats	Aorta	Aorta
20	chr3:492000-492800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:492000-504600	Weak transcription	Aorta	Aorta
22	chr3:492200-493200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:492200-493200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:492200-493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:492400-493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:492600-493000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:492800-496800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:493000-500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:493200-494000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:493200-496400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:493200-500400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:493400-493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:493800-494000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:494000-494200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr3:494000-494200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:494000-496600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:494200-500600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:496400-497600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:496600-497800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:496800-498000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr3:497000-498200	Enhancers	Fetal Intestine Small	intestine
42	chr3:497400-497800	Enhancers	Fetal Intestine Large	intestine
43	chr3:497600-497800	Enhancers	Brain Germinal Matrix	brain
44	chr3:497600-500400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr3:497800-498000	Enhancers	Fetal Brain Male	brain
46	chr3:497800-500000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:497800-500600	Weak transcription	Fetal Intestine Large	intestine
48	chr3:498000-500400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:498200-499200	Weak transcription	Fetal Brain Male	brain
50	chr3:498200-499400	Weak transcription	Brain Germinal Matrix	brain

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