Variant report

Variant	esv1813303
Chromosome Location	chr3:156081835-156093505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156089108..156092383-chr3:156093518..156096511,3	K562	blood:
2	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:
3	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:
4	chr3:156085716..156088226-chr3:156095271..156097532,2	MCF-7	breast:

Extended variants
information (count: 382 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6791462	chr3:156081835-156081836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565775711	chr3:156081863-156081864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35002367	chr3:156081924-156081925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144144135	chr3:156081959-156081960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536341035	chr3:156081961-156081962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190166080	chr3:156082017-156082018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73873334	chr3:156082039-156082040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140881103	chr3:156082053-156082054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557679105	chr3:156082081-156082082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182580477	chr3:156082083-156082084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7624837	chr3:156082087-156082088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144833005	chr3:156082158-156082159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542955593	chr3:156082204-156082205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9855401	chr3:156082300-156082301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140215626	chr3:156082320-156082321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574982193	chr3:156082322-156082323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7624878	chr3:156082333-156082334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs137969330	chr3:156082338-156082339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530784980	chr3:156082339-156082340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545770432	chr3:156082342-156082343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149623072	chr3:156082358-156082359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572771575	chr3:156082401-156082402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187241320	chr3:156082415-156082416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7625115	chr3:156082444-156082445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184658360	chr3:156082459-156082460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529856120	chr3:156082460-156082461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548231144	chr3:156082507-156082508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569792334	chr3:156082508-156082509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188728291	chr3:156082526-156082527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144331677	chr3:156082527-156082528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558573886	chr3:156082581-156082582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532059977	chr3:156082593-156082594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535325007	chr3:156082597-156082598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553395878	chr3:156082607-156082608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574935834	chr3:156082649-156082650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542073562	chr3:156082690-156082691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35294381	chr3:156082714-156082715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540299813	chr3:156082726-156082727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557160434	chr3:156082779-156082780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371029736	chr3:156082826-156082827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16826030	chr3:156082851-156082852	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs564135386	chr3:156082864-156082865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193285464	chr3:156082956-156082957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528477608	chr3:156083099-156083100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541277341	chr3:156083136-156083137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559400802	chr3:156083164-156083165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531314561	chr3:156083165-156083166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148339301	chr3:156083170-156083171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141581851	chr3:156083173-156083174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185076797	chr3:156083197-156083198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Breast cancer	21611746	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156076400-156082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:156076400-156084000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:156076400-156091600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:156076600-156083000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:156076600-156083200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:156077400-156086000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:156079000-156082800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:156079200-156082800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:156079200-156083400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:156079200-156083400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:156082800-156084000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:156082800-156086200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:156082800-156086400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:156082800-156086600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:156083000-156084800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:156083000-156085000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:156083200-156086200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:156083400-156083600	Enhancers	Fetal Brain Male	brain
19	chr3:156083400-156086600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:156083400-156086600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:156083800-156085400	Weak transcription	Fetal Brain Male	brain
22	chr3:156083800-156090200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:156084000-156084400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:156084000-156084800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:156084400-156084600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:156084600-156090200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:156084800-156085200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:156084800-156085200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:156085000-156085400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:156085200-156086200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:156085200-156086800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:156085400-156085600	Enhancers	Fetal Brain Male	brain
33	chr3:156085400-156086400	Enhancers	Fetal Stomach	stomach
34	chr3:156085400-156086800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:156085600-156087600	Weak transcription	Fetal Brain Male	brain
36	chr3:156086000-156086600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr3:156086000-156086600	Bivalent Enhancer	GM12878-XiMat	blood
38	chr3:156086200-156086400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:156086200-156090000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:156086200-156090000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:156086200-156090200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:156086400-156087200	Weak transcription	Fetal Stomach	stomach
43	chr3:156086400-156090200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:156086600-156089800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:156086600-156090000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:156086600-156090200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:156086800-156090200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:156086800-156090200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:156087000-156088000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr3:156087200-156087800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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