Variant report

Variant	nsv1013114
Chromosome Location	chr3:177421455-177443968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:177424201..177426469-chr3:177427457..177429863,3	K562	blood:
2	chr3:177423921..177426469-chr3:177427048..177429863,3	K562	blood:
3	chr3:177433236..177434010-chr9:80761704..80762529,2	MCF-7	breast:
4	chr3:177423921..177426469-chr3:177427048..177429863,3	K562	blood:
5	chr3:177412767..177415044-chr3:177421223..177423851,2	MCF-7	breast:
6	chr3:177424201..177426469-chr3:177427457..177429863,3	K562	blood:
7	chr3:177420301..177421877-chr3:177520246..177522505,2	MCF-7	breast:

Extended variants
information (count: 857 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17635597	chr3:177421455-177421456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149390283	chr3:177421456-177421457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115784975	chr3:177421536-177421537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544386370	chr3:177421586-177421587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557184714	chr3:177421609-177421610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561229999	chr3:177421640-177421641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573884743	chr3:177421648-177421649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77012193	chr3:177421659-177421660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542184643	chr3:177421664-177421665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144668247	chr3:177421671-177421672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112976210	chr3:177421672-177421673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541085612	chr3:177421679-177421680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564244205	chr3:177421682-177421683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139907595	chr3:177421693-177421694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73882269	chr3:177421737-177421738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11716656	chr3:177421756-177421757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563993772	chr3:177421761-177421762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371343183	chr3:177421774-177421775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35830472	chr3:177421804-177421805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376420602	chr3:177421805-177421806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34066617	chr3:177421831-177421832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143696601	chr3:177421844-177421845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191201330	chr3:177421863-177421864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551552526	chr3:177421885-177421886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34347103	chr3:177421900-177421901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs369112538	chr3:177422027-177422028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183777031	chr3:177422046-177422047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147224933	chr3:177422218-177422219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6798785	chr3:177422258-177422259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs6798789	chr3:177422275-177422276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140459208	chr3:177422355-177422356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189184682	chr3:177422414-177422415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111617757	chr3:177422465-177422466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535828712	chr3:177422487-177422488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546779863	chr3:177422495-177422496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577751740	chr3:177422496-177422497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543975651	chr3:177422525-177422526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560456327	chr3:177422553-177422554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73035601	chr3:177422601-177422602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146179912	chr3:177422621-177422622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542914463	chr3:177422705-177422706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs8180064	chr3:177422727-177422728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142170643	chr3:177422749-177422750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528054953	chr3:177422772-177422773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8180067	chr3:177422779-177422780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10513747	chr3:177422783-177422784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374530769	chr3:177422796-177422797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530668565	chr3:177422816-177422817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs8180070	chr3:177422866-177422867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550741289	chr3:177422919-177422920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Cancer	20164920	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177398800-177421600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:177412000-177422200	Weak transcription	Fetal Heart	heart
3	chr3:177412400-177423800	Weak transcription	Thymus	Thymus
4	chr3:177412600-177424200	Weak transcription	Fetal Brain Male	brain
5	chr3:177412800-177424200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:177413600-177432000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:177419000-177423800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:177420600-177421600	Weak transcription	Psoas Muscle	Psoas
9	chr3:177421000-177423600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:177421200-177422200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:177421200-177422400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:177421400-177422000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:177421400-177422200	Enhancers	HMEC	breast
14	chr3:177421400-177422200	Enhancers	HUVEC	blood vessel
15	chr3:177421600-177421800	Enhancers	Brain Anterior Caudate	brain
16	chr3:177421600-177421800	Enhancers	Fetal Thymus	thymus
17	chr3:177421600-177422000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:177421600-177422000	Enhancers	Fetal Muscle Leg	muscle
19	chr3:177421600-177422000	Enhancers	Left Ventricle	heart
20	chr3:177421600-177422200	Enhancers	Esophagus	oesophagus
21	chr3:177421600-177422400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:177421600-177422800	Enhancers	Psoas Muscle	Psoas
23	chr3:177421800-177422000	Enhancers	Ovary	ovary
24	chr3:177421800-177422000	Enhancers	Right Atrium	heart
25	chr3:177421800-177422000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:177421800-177422200	Enhancers	NHEK	skin
27	chr3:177421800-177424000	Weak transcription	Brain Anterior Caudate	brain
28	chr3:177422000-177422200	Enhancers	Aorta	Aorta
29	chr3:177422000-177422200	Enhancers	Right Ventricle	heart
30	chr3:177422000-177422200	Enhancers	Osteobl	bone
31	chr3:177422000-177423600	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:177422000-177423600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:177422000-177423600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:177422000-177423800	Weak transcription	Left Ventricle	heart
35	chr3:177422200-177423000	Enhancers	Fetal Heart	heart
36	chr3:177422200-177423400	Weak transcription	Right Atrium	heart
37	chr3:177422200-177423600	Weak transcription	Ovary	ovary
38	chr3:177422200-177424000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr3:177422200-177424000	Weak transcription	Osteobl	bone
40	chr3:177422200-177424400	Weak transcription	Right Ventricle	heart
41	chr3:177422200-177431800	Weak transcription	Aorta	Aorta
42	chr3:177422400-177424000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:177422800-177423800	Weak transcription	Psoas Muscle	Psoas
44	chr3:177423000-177424000	Weak transcription	Fetal Heart	heart
45	chr3:177423400-177424600	Enhancers	Right Atrium	heart
46	chr3:177423600-177423800	Enhancers	Fetal Muscle Trunk	muscle
47	chr3:177423600-177424600	Enhancers	Fetal Muscle Leg	muscle
48	chr3:177423600-177424800	Enhancers	Fetal Lung	lung
49	chr3:177423600-177424800	Enhancers	Ovary	ovary
50	chr3:177423600-177424800	Enhancers	Skeletal Muscle Female	skeletal muscle

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