Variant report

Variant	nsv966961
Chromosome Location	chr3:150490481-150498929
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150454816..150455641-chr3:150490986..150491863,4	MCF-7	breast:
2	chr3:150476989..150478844-chr3:150495018..150496645,2	MCF-7	breast:
3	chr3:150491700..150494169-chr3:150496061..150497673,2	K562	blood:
4	chr3:150440378..150441177-chr3:150491153..150491709,2	MCF-7	breast:
5	chr3:150454816..150455641-chr3:150490986..150491863,5	MCF-7	breast:
6	chr3:150491700..150494169-chr3:150496061..150497673,2	K562	blood:
7	chr3:150478942..150482088-chr3:150496182..150498924,4	MCF-7	breast:
8	chr3:150439307..150439816-chr3:150496988..150497532,2	K562	blood:
9	chr3:150492633..150496466-chr3:150500350..150503756,3	MCF-7	breast:
10	chr3:150479408..150483171-chr3:150493813..150495944,3	MCF-7	breast:
11	chr3:150498825..150500781-chr3:150500815..150502754,2	K562	blood:
12	chr3:150480011..150485473-chr3:150496405..150501223,6	K562	blood:
13	chr3:150454885..150455745-chr3:150491577..150492178,2	MCF-7	breast:
14	chr3:150493251..150495060-chr3:150621009..150622923,2	K562	blood:
15	chr3:150482246..150483991-chr3:150496557..150499454,2	MCF-7	breast:
16	chr3:150491265..150491866-chr3:150562006..150562929,2	MCF-7	breast:
17	chr3:150439162..150440062-chr3:150496902..150497867,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000244265	chromatin interactions
ENSG00000244382	chromatin interactions
ENSG00000181788	chromatin interactions

Extended variants
information (count: 303 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563678862	chr3:150490482-150490483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143896925	chr3:150490532-150490533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569354882	chr3:150490545-150490546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561577282	chr3:150490591-150490592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150621339	chr3:150490650-150490651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558883440	chr3:150490664-150490665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528206754	chr3:150490723-150490724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528767329	chr3:150490779-150490780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551163505	chr3:150490782-150490783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76478415	chr3:150490796-150490797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536885730	chr3:150490822-150490823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550789126	chr3:150490841-150490842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149441352	chr3:150490844-150490845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113134786	chr3:150490852-150490853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35936053	chr3:150490853-150490854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571702981	chr3:150490863-150490864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386667045	chr3:150490865-150490866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555811937	chr3:150490866-150490867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74543184	chr3:150490868-150490869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572320209	chr3:150490946-150490947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540112620	chr3:150491008-150491009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144837249	chr3:150491011-150491012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369129594	chr3:150491057-150491058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558004718	chr3:150491201-150491202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578041487	chr3:150491245-150491246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185141200	chr3:150491252-150491253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563494765	chr3:150491258-150491259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574005574	chr3:150491282-150491283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74417281	chr3:150491311-150491312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558946810	chr3:150491377-150491378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528105079	chr3:150491395-150491396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144533220	chr3:150491483-150491484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543952591	chr3:150491572-150491573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188807286	chr3:150491617-150491618	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373142808	chr3:150491619-150491620	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs11710995	chr3:150491629-150491630	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs555848722	chr3:150491672-150491673	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192457840	chr3:150491728-150491729	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530035941	chr3:150491729-150491730	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs184805849	chr3:150491742-150491743	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532570582	chr3:150491754-150491755	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566742033	chr3:150491755-150491756	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534749987	chr3:150491794-150491795	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558129021	chr3:150491799-150491800	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571654166	chr3:150491825-150491826	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537108301	chr3:150491828-150491829	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs557150335	chr3:150491847-150491848	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs573869273	chr3:150491848-150491849	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376158060	chr3:150491864-150491865	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs553288869	chr3:150491879-150491880	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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	22032731	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
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150482000-150491600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:150482000-150491800	Weak transcription	Gastric	stomach
3	chr3:150482800-150492600	Weak transcription	Spleen	Spleen
4	chr3:150483800-150490800	Weak transcription	Stomach Mucosa	stomach
5	chr3:150484200-150498600	Weak transcription	Fetal Intestine Small	intestine
6	chr3:150484800-150493800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:150489200-150492800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:150489200-150493000	Weak transcription	NHDF-Ad	bronchial
9	chr3:150489200-150493200	Weak transcription	Osteobl	bone
10	chr3:150489400-150492600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:150489600-150492600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:150489800-150491600	Weak transcription	Left Ventricle	heart
13	chr3:150489800-150491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:150489800-150492600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:150489800-150492600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:150489800-150492600	Weak transcription	Pancreas	Pancrea
17	chr3:150490000-150491200	Weak transcription	Liver	Liver
18	chr3:150490000-150491400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:150490200-150491400	Weak transcription	HepG2	liver
20	chr3:150491400-150491600	Enhancers	Liver	Liver
21	chr3:150491400-150491600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:150491400-150491800	Enhancers	HepG2	liver
23	chr3:150491400-150492200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:150491400-150492400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:150491600-150491800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:150491600-150491800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr3:150491600-150491800	Enhancers	Left Ventricle	heart
28	chr3:150491600-150492000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:150491600-150492000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr3:150491800-150492000	Enhancers	Gastric	stomach
31	chr3:150491800-150493200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:150491800-150497200	Weak transcription	HepG2	liver
33	chr3:150492000-150492400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:150492000-150492600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:150492400-150493600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:150492600-150492800	Enhancers	Spleen	Spleen
37	chr3:150492600-150493000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:150492600-150493000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:150492600-150493200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:150492600-150493200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:150492600-150493200	Enhancers	Placenta	Placenta
42	chr3:150492600-150493600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:150492800-150493000	Enhancers	NH-A	brain
44	chr3:150492800-150493800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:150493000-150493200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:150493000-150493200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:150493000-150493600	Enhancers	NHDF-Ad	bronchial
48	chr3:150493000-150493600	Enhancers	NHEK	skin
49	chr3:150493200-150493600	Enhancers	Osteobl	bone
50	chr3:150493200-150496400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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