Variant report

Variant	nsv980067
Chromosome Location	chr3:99585666-99590644
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:99574024..99577676-chr3:99581622..99586745,5	K562	blood:
2	chr3:99582343..99586390-chr3:99587207..99589734,4	MCF-7	breast:
3	chr3:99589389..99592521-chr3:99720573..99723632,4	MCF-7	breast:
4	chr3:99572300..99574095-chr3:99587756..99590558,2	MCF-7	breast:
5	chr3:99586883..99589677-chr3:99616438..99618388,2	K562	blood:
6	chr3:99582314..99585905-chr3:99590964..99594499,4	MCF-7	breast:
7	chr3:99589828..99592269-chr3:99639312..99642221,3	K562	blood:
8	chr3:99563302..99565936-chr3:99585256..99586921,2	K562	blood:
9	chr3:99584236..99588094-chr3:99589040..99591682,4	MCF-7	breast:
10	chr3:99584410..99586958-chr3:99739042..99741066,2	K562	blood:
11	chr3:99584236..99588094-chr3:99589040..99591682,4	MCF-7	breast:
12	chr3:99583225..99585048-chr3:99585235..99587325,2	K562	blood:
13	chr3:99582343..99586390-chr3:99587207..99589734,4	MCF-7	breast:
14	chr3:99589147..99593753-chr3:99593896..99597054,6	MCF-7	breast:
15	chr3:99579898..99582350-chr3:99587582..99589393,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168386	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537028993	chr3:99585767-99585768	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs572106656	chr3:99585814-99585815	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540479544	chr3:99585828-99585829	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs558715952	chr3:99585851-99585852	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376302175	chr3:99585879-99585880	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs371952873	chr3:99585884-99585885	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540882794	chr3:99585967-99585968	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559457316	chr3:99585978-99585979	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574647604	chr3:99586010-99586011	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77168664	chr3:99586032-99586033	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs554369783	chr3:99586049-99586050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145245589	chr3:99586071-99586072	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530845290	chr3:99586096-99586097	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543669582	chr3:99586105-99586106	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374549384	chr3:99586131-99586132	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs182348477	chr3:99586146-99586147	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560392000	chr3:99586150-99586151	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs113811833	chr3:99586184-99586185	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528547289	chr3:99586228-99586229	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs546883974	chr3:99586232-99586233	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs561349182	chr3:99586284-99586285	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs528829951	chr3:99586403-99586404	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs148728024	chr3:99586435-99586436	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535663317	chr3:99586555-99586556	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143570492	chr3:99586578-99586579	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569550898	chr3:99586600-99586601	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374091906	chr3:99586627-99586628	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187891244	chr3:99586645-99586646	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558552256	chr3:99586708-99586709	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73860476	chr3:99586928-99586929	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74389874	chr3:99586991-99586992	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140428223	chr3:99587037-99587038	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs574612480	chr3:99587045-99587046	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527714024	chr3:99587096-99587097	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs541641208	chr3:99587222-99587223	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs115104237	chr3:99587229-99587230	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs78310695	chr3:99587240-99587241	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575163582	chr3:99587244-99587245	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs145525294	chr3:99587245-99587246	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191585242	chr3:99587259-99587260	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs150986571	chr3:99587282-99587283	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140806047	chr3:99587304-99587305	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567015240	chr3:99587352-99587353	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562026446	chr3:99587388-99587389	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376716901	chr3:99587389-99587390	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs150127030	chr3:99587402-99587403	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184900597	chr3:99587434-99587435	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs569585629	chr3:99587499-99587500	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs188001169	chr3:99587538-99587539	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs35775820	chr3:99587583-99587584	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	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
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99537200-99594400	Weak transcription	Esophagus	oesophagus
2	chr3:99563200-99593600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:99565600-99589400	Weak transcription	K562	blood
4	chr3:99569000-99589600	Weak transcription	Colonic Mucosa	Colon
5	chr3:99573200-99594000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:99573400-99589200	Genic enhancers	HepG2	liver
7	chr3:99574400-99590000	Weak transcription	Liver	Liver
8	chr3:99575000-99587000	Weak transcription	Pancreas	Pancrea
9	chr3:99575000-99593600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:99575200-99587000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:99576000-99587600	Genic enhancers	NHDF-Ad	bronchial
12	chr3:99577400-99587200	Weak transcription	Brain Anterior Caudate	brain
13	chr3:99579200-99591000	Genic enhancers	NH-A	brain
14	chr3:99579400-99587000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:99579400-99591000	Weak transcription	Fetal Lung	lung
16	chr3:99579600-99592400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:99580600-99587000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:99580600-99587600	Weak transcription	Brain Angular Gyrus	brain
19	chr3:99580800-99590800	Weak transcription	Lung	lung
20	chr3:99581200-99589200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:99581400-99594000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:99581800-99589600	Weak transcription	Gastric	stomach
23	chr3:99582000-99587200	Weak transcription	Spleen	Spleen
24	chr3:99582000-99589400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:99582000-99589400	Weak transcription	Right Ventricle	heart
26	chr3:99582200-99586400	Weak transcription	Psoas Muscle	Psoas
27	chr3:99582200-99587000	Weak transcription	Right Atrium	heart
28	chr3:99582400-99587000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:99582400-99587000	Weak transcription	NHEK	skin
30	chr3:99582400-99589400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:99582600-99587000	Weak transcription	Placenta	Placenta
32	chr3:99583000-99587200	Enhancers	Rectal Smooth Muscle	rectum
33	chr3:99583200-99586400	Enhancers	NHLF	lung
34	chr3:99583400-99586400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:99583600-99586200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:99583600-99586200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:99583600-99586600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:99583600-99587000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr3:99583600-99593600	Weak transcription	Primary B cells from cord blood	blood
40	chr3:99584000-99585800	Enhancers	HMEC	breast
41	chr3:99584000-99586200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:99584000-99587600	Genic enhancers	HSMM	muscle
43	chr3:99584200-99586000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:99584200-99586000	Enhancers	Dnd41	blood
45	chr3:99584200-99586600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr3:99584400-99588600	Weak transcription	Fetal Intestine Large	intestine
47	chr3:99584600-99586600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr3:99584600-99587600	Enhancers	Primary T cells from cord blood	blood
49	chr3:99584800-99585800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr3:99584800-99586000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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