Variant report

Variant	nsv437889
Chromosome Location	chr3:155180174-155185050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:155166382..155168478-chr3:155179446..155181063,2	MCF-7	breast:
2	chr3:155178266..155180297-chr3:155313970..155315734,2	K562	blood:
3	chr3:155167059..155168776-chr3:155182415..155184760,2	K562	blood:

Variant related genes	Relation type
ENSG00000239508	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6440993	chr3:155180174-155180175	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549898352	chr3:155180276-155180277	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571367035	chr3:155180289-155180290	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143162143	chr3:155180300-155180301	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547984415	chr3:155180314-155180315	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566212753	chr3:155180345-155180346	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs191907518	chr3:155180363-155180364	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183382675	chr3:155180365-155180366	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569714070	chr3:155180383-155180384	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147547801	chr3:155180385-155180386	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558588324	chr3:155180441-155180442	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576941885	chr3:155180528-155180529	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538428000	chr3:155180588-155180589	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553910791	chr3:155180606-155180607	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34132051	chr3:155180656-155180657	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73874806	chr3:155180657-155180658	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34778970	chr3:155180666-155180667	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs542897716	chr3:155180690-155180691	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113858945	chr3:155180708-155180709	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561074803	chr3:155180787-155180788	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs62276952	chr3:155180872-155180873	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576060268	chr3:155180949-155180950	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543450769	chr3:155181075-155181076	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138532138	chr3:155181099-155181100	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187352643	chr3:155181203-155181204	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547201234	chr3:155181206-155181207	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62276953	chr3:155181222-155181223	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541645174	chr3:155181232-155181233	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548819908	chr3:155181235-155181236	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560336334	chr3:155181296-155181297	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570024773	chr3:155181340-155181341	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141855722	chr3:155181375-155181376	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9848852	chr3:155181380-155181381	Enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570541114	chr3:155181381-155181382	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150621484	chr3:155181387-155181388	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76068589	chr3:155181463-155181464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76113384	chr3:155181559-155181560	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117586046	chr3:155181592-155181593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572202851	chr3:155181609-155181610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192259510	chr3:155181617-155181618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554862323	chr3:155181618-155181619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576420054	chr3:155181630-155181631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370718453	chr3:155181640-155181641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183833735	chr3:155181648-155181649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552450916	chr3:155181661-155181662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113336441	chr3:155181667-155181668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73874807	chr3:155181697-155181698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs149801089	chr3:155181713-155181714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372944119	chr3:155181763-155181764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115826102	chr3:155181791-155181792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155173800-155182400	Weak transcription	Gastric	stomach
2	chr3:155175000-155183000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:155176000-155183400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:155177600-155186800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:155178400-155198800	Weak transcription	Thymus	Thymus
6	chr3:155178800-155183600	Weak transcription	Fetal Thymus	thymus
7	chr3:155179000-155181600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:155179400-155181200	Strong transcription	Dnd41	blood
9	chr3:155179600-155181600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:155180400-155180800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:155180800-155181400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:155180800-155200200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:155181200-155182800	Weak transcription	Dnd41	blood
14	chr3:155181400-155186200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:155181600-155183000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:155182800-155184800	Strong transcription	Dnd41	blood
17	chr3:155182800-155186800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:155183000-155183400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:155183000-155184000	Weak transcription	Fetal Intestine Large	intestine
20	chr3:155183000-155184200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr3:155183000-155185800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:155183400-155183800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:155183400-155184000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr3:155183600-155184200	ZNF genes & repeats	Fetal Thymus	thymus
25	chr3:155183800-155184000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:155184000-155184200	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr3:155184200-155186000	Weak transcription	Fetal Thymus	thymus
28	chr3:155184400-155184600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:155184800-155193000	Weak transcription	Dnd41	blood

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