Variant report

Variant	esv3450543
Chromosome Location	chr3:155356306-155360550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576204579	chr3:155356394-155356395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187421586	chr3:155356401-155356402	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564868049	chr3:155356427-155356428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531957225	chr3:155356429-155356430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547032116	chr3:155356456-155356457	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559311678	chr3:155356460-155356461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529709631	chr3:155356542-155356543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548288501	chr3:155356698-155356699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570119089	chr3:155356729-155356730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9844708	chr3:155356743-155356744	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147238276	chr3:155356768-155356769	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571210204	chr3:155356769-155356770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9844732	chr3:155356793-155356794	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139160027	chr3:155356794-155356795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574776077	chr3:155356798-155356799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115488259	chr3:155356803-155356804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557444038	chr3:155356827-155356828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576140785	chr3:155356867-155356868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149364325	chr3:155356868-155356869	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558425132	chr3:155356881-155356882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9828965	chr3:155356989-155356990	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368155654	chr3:155357016-155357017	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371992719	chr3:155357056-155357057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4680208	chr3:155357060-155357061	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs144087104	chr3:155357100-155357101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114658172	chr3:155357109-155357110	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541548341	chr3:155357120-155357121	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192227278	chr3:155357166-155357167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531125420	chr3:155357171-155357172	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552842383	chr3:155357188-155357189	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56050389	chr3:155357200-155357201	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148661836	chr3:155357254-155357255	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141379740	chr3:155357306-155357307	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368793598	chr3:155357332-155357333	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535875685	chr3:155357354-155357355	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1967426	chr3:155357370-155357371	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs201205003	chr3:155357426-155357427	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569379597	chr3:155357427-155357428	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78321453	chr3:155357446-155357447	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs558285240	chr3:155357505-155357506	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs576650551	chr3:155357515-155357516	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540893372	chr3:155357559-155357560	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553269888	chr3:155357580-155357581	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs574332748	chr3:155357588-155357589	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs139380125	chr3:155357612-155357613	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs545394748	chr3:155357621-155357622	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563230043	chr3:155357676-155357677	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs112101051	chr3:155357680-155357681	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111960484	chr3:155357681-155357682	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs5853727	chr3:155357683-155357684	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	22522925	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155347200-155357800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:155347800-155357600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:155348200-155357800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:155350400-155360000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:155352000-155357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:155352400-155357200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:155352600-155357600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:155352600-155357800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:155352600-155359800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:155352800-155357600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:155354000-155363400	Weak transcription	Fetal Intestine Small	intestine
12	chr3:155355600-155356400	Enhancers	Fetal Stomach	stomach
13	chr3:155355800-155363600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:155355800-155366600	Weak transcription	Pancreas	Pancrea
15	chr3:155356000-155357000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:155356000-155357200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:155356000-155357400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:155356000-155357400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:155356000-155357600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:155356000-155357800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:155356200-155357000	Weak transcription	Stomach Mucosa	stomach
22	chr3:155356400-155356800	Weak transcription	Fetal Stomach	stomach
23	chr3:155356800-155357000	Enhancers	Fetal Stomach	stomach
24	chr3:155357000-155357400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:155357000-155357400	Enhancers	Gastric	stomach
26	chr3:155357000-155357800	Enhancers	Stomach Mucosa	stomach
27	chr3:155357000-155358200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:155357000-155359600	Weak transcription	Fetal Stomach	stomach
29	chr3:155357200-155358200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:155357200-155358200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:155357400-155358200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:155357400-155358400	Enhancers	A549	lung
33	chr3:155357400-155360000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:155357400-155379000	Weak transcription	Gastric	stomach
35	chr3:155357600-155358200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr3:155357600-155358200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:155357600-155358200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:155357600-155358200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr3:155357600-155358400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:155357600-155358800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:155357800-155358200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:155357800-155358200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:155357800-155358200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:155357800-155358400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:155357800-155361800	Weak transcription	Stomach Mucosa	stomach
46	chr3:155358000-155358200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:155358200-155358600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:155358200-155359200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:155358200-155359800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:155358200-155359800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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