Variant report

Variant	esv2518941
Chromosome Location	chr3:158349755-158352064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146025646	chr3:158349755-158349756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552574951	chr3:158349756-158349757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574393044	chr3:158349806-158349807	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs374502147	chr3:158349824-158349825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557233782	chr3:158349825-158349826	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs139643967	chr3:158349840-158349841	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs149717938	chr3:158349868-158349869	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564264228	chr3:158349885-158349886	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs531217861	chr3:158349891-158349892	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543037527	chr3:158349940-158349941	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376563724	chr3:158349949-158349950	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76582888	chr3:158349953-158349954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs559850239	chr3:158349957-158349958	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530115793	chr3:158349975-158349976	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4680448	chr3:158349978-158349979	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs528755109	chr3:158349979-158349980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs184661258	chr3:158350065-158350066	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4680449	chr3:158350118-158350119	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs570687316	chr3:158350122-158350123	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144568251	chr3:158350160-158350161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs146148637	chr3:158350167-158350168	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189596013	chr3:158350173-158350174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568025201	chr3:158350177-158350178	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs180812462	chr3:158350184-158350185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs551184683	chr3:158350191-158350192	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556681749	chr3:158350198-158350199	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569174355	chr3:158350203-158350204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539730009	chr3:158350222-158350223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558012952	chr3:158350246-158350247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186439761	chr3:158350257-158350258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540388221	chr3:158350272-158350273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56973279	chr3:158350315-158350316	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs190705285	chr3:158350330-158350331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574833085	chr3:158350378-158350379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369192485	chr3:158350427-158350428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570676184	chr3:158350460-158350461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373432670	chr3:158350510-158350511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201678987	chr3:158350551-158350552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542247270	chr3:158350561-158350562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563516731	chr3:158350575-158350576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148457274	chr3:158350647-158350648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547746323	chr3:158350663-158350664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539717745	chr3:158350691-158350692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368204577	chr3:158350740-158350741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546264730	chr3:158350741-158350742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531262498	chr3:158350744-158350745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546108561	chr3:158350745-158350746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564402437	chr3:158350878-158350879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528672484	chr3:158350879-158350880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145105104	chr3:158350897-158350898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158349000-158351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:158349400-158351400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:158349600-158349800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr3:158349600-158350200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:158349600-158350200	Enhancers	Brain Germinal Matrix	brain
6	chr3:158349600-158350400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:158349600-158350400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:158349600-158350600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:158349800-158350200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:158349800-158350200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:158349800-158350200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr3:158349800-158350200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:158349800-158350600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr3:158350000-158350200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:158350000-158350400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:158350000-158350400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:158350000-158350600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:158350000-158350600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:158350200-158350400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:158350200-158351800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:158350200-158352000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:158350400-158352000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:158350600-158351800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:158350600-158352000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:158350600-158352000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:158350600-158352200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:158351800-158352000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:158351800-158352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:158351800-158352400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr3:158352000-158352200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr3:158352000-158352200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr3:158352000-158352200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:158352000-158352200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
34	chr3:158352000-158352200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr3:158352000-158352400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr3:158352000-158352400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:158352000-158352400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:158352000-158352400	Enhancers	Fetal Brain Female	brain
39	chr3:158352000-158352600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:158352000-158353000	Active TSS	HUES64 Cell Line	embryonic stem cell

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