Variant report

Variant	nsv963365
Chromosome Location	chr3:141756577-141762756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141752908..141754951-chr3:141758367..141761126,3	K562	blood:
2	chr3:141745791..141750569-chr3:141753730..141757585,7	K562	blood:
3	chr3:141748723..141752115-chr3:141753472..141758138,4	MCF-7	breast:
4	chr3:141742047..141744583-chr3:141758221..141760066,2	K562	blood:

Variant related genes	Relation type
ENSG00000114126	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181455344	chr3:141756593-141756594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs549089743	chr3:141756595-141756596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562471576	chr3:141756601-141756602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373835669	chr3:141756609-141756610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529774727	chr3:141756652-141756653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562838290	chr3:141756659-141756660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367976511	chr3:141756663-141756664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541962519	chr3:141756731-141756732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560708560	chr3:141756760-141756761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372182324	chr3:141756804-141756805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542035135	chr3:141756833-141756834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552824881	chr3:141756839-141756840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571102861	chr3:141756852-141756853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6778085	chr3:141756869-141756870	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs549722426	chr3:141756894-141756895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374264154	chr3:141756936-141756937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568128531	chr3:141756953-141756954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370785031	chr3:141756957-141756958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535526220	chr3:141756993-141756994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553999189	chr3:141757010-141757011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555612911	chr3:141757064-141757065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9863685	chr3:141757097-141757098	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533790831	chr3:141757098-141757099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558813664	chr3:141757204-141757205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577019934	chr3:141757210-141757211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141351250	chr3:141757223-141757224	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs80275819	chr3:141757225-141757226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77322751	chr3:141757229-141757230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13078440	chr3:141757249-141757250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138712760	chr3:141757266-141757267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372207255	chr3:141757280-141757281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556161784	chr3:141757384-141757385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs142772431	chr3:141757402-141757403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184692808	chr3:141757446-141757447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560030839	chr3:141757547-141757548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190013683	chr3:141757555-141757556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546033390	chr3:141757569-141757570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181644044	chr3:141757571-141757572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575292486	chr3:141757574-141757575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186501283	chr3:141757575-141757576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs191136959	chr3:141757751-141757752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568089868	chr3:141757792-141757793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529285140	chr3:141757851-141757852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547863873	chr3:141757866-141757867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566089913	chr3:141757886-141757887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369165201	chr3:141757897-141757898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539928132	chr3:141757899-141757900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144544812	chr3:141757918-141757919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575511184	chr3:141757969-141757970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181904950	chr3:141757995-141757996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	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
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141747600-141762600	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:141747600-141762800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:141747600-141773000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr3:141747600-141780400	Weak transcription	Left Ventricle	heart
5	chr3:141748800-141758400	Weak transcription	Thymus	Thymus
6	chr3:141751200-141765000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:141751400-141759600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:141751400-141764400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:141752400-141759800	Weak transcription	Dnd41	blood
10	chr3:141753600-141768400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:141755200-141771400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:141755800-141758400	Weak transcription	Fetal Thymus	thymus
13	chr3:141756200-141756600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:141756200-141756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:141756200-141762600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:141756400-141758400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:141756400-141758400	Weak transcription	K562	blood
18	chr3:141756600-141759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:141756800-141759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:141757800-141762600	Weak transcription	Aorta	Aorta
21	chr3:141758200-141758400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:141758200-141758400	Enhancers	Fetal Muscle Trunk	muscle
23	chr3:141758200-141758600	Enhancers	A549	lung
24	chr3:141758200-141758800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:141758200-141758800	Enhancers	Esophagus	oesophagus
26	chr3:141758200-141758800	Enhancers	Fetal Intestine Large	intestine
27	chr3:141758200-141758800	Enhancers	Ovary	ovary
28	chr3:141758200-141758800	Enhancers	Pancreas	Pancrea
29	chr3:141758400-141758600	Enhancers	Right Ventricle	heart
30	chr3:141758400-141758800	Genic enhancers	Fetal Thymus	thymus
31	chr3:141758400-141758800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr3:141758400-141758800	Genic enhancers	Thymus	Thymus
33	chr3:141758400-141760400	Enhancers	K562	blood
34	chr3:141758400-141762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:141758400-141777400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr3:141758800-141762200	Weak transcription	Thymus	Thymus
37	chr3:141758800-141762400	Weak transcription	Fetal Intestine Large	intestine
38	chr3:141758800-141762400	Weak transcription	Fetal Thymus	thymus
39	chr3:141758800-141762600	Weak transcription	Pancreas	Pancrea
40	chr3:141758800-141762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:141758800-141768800	Weak transcription	Esophagus	oesophagus
42	chr3:141758800-141775800	Weak transcription	Ovary	ovary
43	chr3:141759200-141760400	Enhancers	Fetal Intestine Small	intestine
44	chr3:141759600-141760200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:141759600-141760400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:141759600-141760600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:141759600-141760800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:141759800-141760000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr3:141759800-141760400	Enhancers	Dnd41	blood
50	chr3:141760000-141770000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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