Variant report

Variant	esv2760759
Chromosome Location	chr3:144101799-144112161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143691289..143694022-chr3:144110029..144111765,2	MCF-7	breast:
2	chr3:144110259..144111944-chr3:144113646..144116432,2	K562	blood:

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs730837	chr3:144101799-144101800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556432127	chr3:144101810-144101811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146861271	chr3:144101851-144101852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541988239	chr3:144101868-144101869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181217501	chr3:144101916-144101917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16855355	chr3:144101918-144101919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186497140	chr3:144101932-144101933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548968493	chr3:144101935-144101936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527913297	chr3:144101936-144101937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143821372	chr3:144101964-144101965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564072814	chr3:144101969-144101970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189321982	chr3:144102014-144102015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560229266	chr3:144102018-144102019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549812353	chr3:144102068-144102069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568314846	chr3:144102105-144102106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151109204	chr3:144102106-144102107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551845070	chr3:144102137-144102138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565853680	chr3:144102148-144102149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539285225	chr3:144102170-144102171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180956043	chr3:144102213-144102214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140111072	chr3:144102230-144102231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567264571	chr3:144102274-144102275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556158329	chr3:144102307-144102308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574754526	chr3:144102321-144102322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150306650	chr3:144102323-144102324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554069776	chr3:144102340-144102341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137887670	chr3:144102429-144102430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142116904	chr3:144102438-144102439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563660207	chr3:144102469-144102470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115673047	chr3:144102495-144102496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549161545	chr3:144102496-144102497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75869002	chr3:144102497-144102498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531309715	chr3:144102499-144102500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79543481	chr3:144102506-144102507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186293074	chr3:144102532-144102533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191078789	chr3:144102535-144102536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538589171	chr3:144102549-144102550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547695187	chr3:144102584-144102585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182060383	chr3:144102598-144102599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186092327	chr3:144102664-144102665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145859751	chr3:144102684-144102685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138834478	chr3:144102706-144102707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570893277	chr3:144102716-144102717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191712632	chr3:144102745-144102746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34389466	chr3:144102857-144102858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573461879	chr3:144102882-144102883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568089972	chr3:144102908-144102909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142779336	chr3:144103002-144103003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115303054	chr3:144103153-144103154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73149824	chr3:144103169-144103170	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	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
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144100400-144102600	Weak transcription	Fetal Lung	lung
2	chr3:144100600-144103400	Weak transcription	Brain Substantia Nigra	brain
3	chr3:144101200-144103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:144101400-144103400	Weak transcription	NHEK	skin
5	chr3:144102000-144103600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:144102000-144103600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:144102000-144103800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:144102200-144103600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:144102200-144103800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:144102200-144103800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:144102400-144102800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:144102400-144102800	Enhancers	Brain Germinal Matrix	brain
13	chr3:144102600-144103800	Enhancers	Fetal Lung	lung
14	chr3:144103200-144103600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:144103200-144103600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:144103200-144103600	Enhancers	Rectal Smooth Muscle	rectum
17	chr3:144103200-144103600	Enhancers	Stomach Mucosa	stomach
18	chr3:144103200-144103600	Enhancers	Stomach Smooth Muscle	stomach
19	chr3:144103200-144103800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:144103200-144104000	Enhancers	Fetal Stomach	stomach
21	chr3:144103400-144103600	Enhancers	Brain Substantia Nigra	brain
22	chr3:144103400-144103600	Enhancers	Esophagus	oesophagus
23	chr3:144103400-144103600	Enhancers	NHEK	skin
24	chr3:144103400-144103800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:144103400-144103800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:144103600-144104800	Weak transcription	NHEK	skin
27	chr3:144104000-144104400	Weak transcription	Fetal Stomach	stomach
28	chr3:144104400-144104800	Enhancers	Fetal Stomach	stomach
29	chr3:144109200-144110200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:144110000-144111000	Enhancers	Brain Hippocampus Middle	brain
31	chr3:144110000-144112600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr3:144110200-144110600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:144110200-144110800	Enhancers	Brain Angular Gyrus	brain
34	chr3:144110200-144111000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr3:144110200-144111400	Enhancers	Brain Substantia Nigra	brain
36	chr3:144110200-144112600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:144110400-144110800	Enhancers	NHEK	skin
38	chr3:144110400-144111000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:144110600-144111200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:144110800-144112600	Weak transcription	NHEK	skin
41	chr3:144111400-144112400	Enhancers	Fetal Heart	heart
42	chr3:144112000-144113200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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