Variant report

Variant	nsv869827
Chromosome Location	chr3:76074846-76142916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:76073881..76074768-chr3:76093884..76094767,3	MCF-7	breast:
2	chr3:76077395..76079009-chr3:76080848..76082898,2	K562	blood:
3	chr3:75867624..75868149-chr3:76093803..76094658,2	MCF-7	breast:
4	chr3:76077395..76079009-chr3:76080848..76082898,2	K562	blood:

Extended variants
information (count: 2476 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2476 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11916175	chr3:76074846-76074847	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17013681	chr3:76074853-76074854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115995702	chr3:76074912-76074913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72890380	chr3:76074935-76074936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552334829	chr3:76074940-76074941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570777306	chr3:76075004-76075005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189405178	chr3:76075010-76075011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546651888	chr3:76075015-76075016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543994899	chr3:76075023-76075024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567933488	chr3:76075034-76075035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535293175	chr3:76075038-76075039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373764634	chr3:76075047-76075048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74933390	chr3:76075055-76075056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575498018	chr3:76075073-76075074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs137910693	chr3:76075078-76075079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572763966	chr3:76075079-76075080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539975863	chr3:76075130-76075131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561795036	chr3:76075141-76075142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182203029	chr3:76075170-76075171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576466164	chr3:76075184-76075185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542481204	chr3:76075195-76075196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563868151	chr3:76075213-76075214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531114336	chr3:76075263-76075264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186119217	chr3:76075325-76075326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564336881	chr3:76075326-76075327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368735749	chr3:76075332-76075333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546566010	chr3:76075388-76075389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191020892	chr3:76075412-76075413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535552870	chr3:76075445-76075446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543860830	chr3:76075523-76075524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183119375	chr3:76075568-76075569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568995106	chr3:76075599-76075600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539370251	chr3:76075633-76075634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558003924	chr3:76075641-76075642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs207463225	chr3:76075684-76075685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142372654	chr3:76075714-76075715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533806081	chr3:76075750-76075751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574655731	chr3:76075755-76075756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555394192	chr3:76075774-76075775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540192487	chr3:76075803-76075804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573826694	chr3:76075820-76075821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559665594	chr3:76075879-76075880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186452093	chr3:76075904-76075905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116128970	chr3:76075957-76075958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35001430	chr3:76076009-76076010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190118242	chr3:76076015-76076016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371064542	chr3:76076024-76076025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60924736	chr3:76076025-76076026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183119032	chr3:76076050-76076051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150078368	chr3:76076056-76076057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:76073000-76075200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:76073600-76075200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:76073800-76075000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:76074400-76075000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:76074400-76075200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:76074600-76075200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:76074600-76075800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:76074800-76076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:76075000-76075200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:76075200-76078000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:76075200-76078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr3:76075200-76088000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:76075800-76076200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:76076200-76078000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:76077000-76084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:76078000-76078200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:76078000-76078200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:76082400-76082600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:76082400-76082600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:76082400-76082600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:76082400-76083000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:76082600-76083600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:76082600-76084000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:76082600-76084000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:76083000-76087600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:76083000-76088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:76083600-76085000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:76083600-76085200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:76083800-76084400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:76084000-76084200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:76084000-76084200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:76084000-76084200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:76084000-76084600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:76084200-76084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:76084200-76087400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:76084200-76087600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:76084400-76084800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:76084400-76085200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:76084600-76085000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:76084800-76085000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:76084800-76085000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr3:76085000-76085200	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:76085000-76087000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:76085000-76087000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:76085000-76092400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:76085200-76086600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:76085200-76087000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:76085200-76087400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:76086600-76087600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:76086800-76089600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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