Variant report

Variant	esv32611
Chromosome Location	chr3:143191298-143195462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143181442..143183535-chr3:143191778..143193761,2	K562	blood:
2	chr3:143193715..143198774-chr3:143199748..143204167,7	K562	blood:
3	chr3:143181241..143183535-chr3:143191463..143193278,2	K562	blood:

Extended variants
information (count: 165 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs553226128	chr3:143191330-143191331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530143110	chr3:143191402-143191403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548685226	chr3:143191420-143191421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142947477	chr3:143191431-143191432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183042035	chr3:143191529-143191530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188125937	chr3:143191542-143191543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs838625	chr3:143191553-143191554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192173441	chr3:143191568-143191569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556608656	chr3:143191571-143191572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570078465	chr3:143191703-143191704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573394737	chr3:143191751-143191752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs63349261	chr3:143191799-143191800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151090560	chr3:143191836-143191837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35078461	chr3:143191849-143191850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs398082513	chr3:143191860-143191861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184253238	chr3:143191886-143191887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571813240	chr3:143191917-143191918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530917627	chr3:143191928-143191929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545636973	chr3:143191965-143191966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564293744	chr3:143192004-143192005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531450416	chr3:143192042-143192043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141079762	chr3:143192047-143192048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575495262	chr3:143192074-143192075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536591925	chr3:143192093-143192094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146910325	chr3:143192137-143192138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147557011	chr3:143192143-143192144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370592278	chr3:143192146-143192147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114803889	chr3:143192157-143192158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552437155	chr3:143192208-143192209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541035343	chr3:143192247-143192248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202107315	chr3:143192281-143192282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538090696	chr3:143192316-143192317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111845695	chr3:143192320-143192321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568438374	chr3:143192362-143192363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141995932	chr3:143192396-143192397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs838626	chr3:143192433-143192434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs571745823	chr3:143192441-143192442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187884181	chr3:143192444-143192445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577667979	chr3:143192459-143192460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs838627	chr3:143192479-143192480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369715392	chr3:143192517-143192518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145864092	chr3:143192535-143192536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149052573	chr3:143192555-143192556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143037186	chr3:143192574-143192575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115137130	chr3:143192617-143192618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372296557	chr3:143192634-143192635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561934881	chr3:143192642-143192643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138556980	chr3:143192724-143192725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192487992	chr3:143192733-143192734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185509016	chr3:143192758-143192759	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
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
Adrenocortical carcinoma	18281524	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143159600-143200800	Weak transcription	Esophagus	oesophagus
2	chr3:143163400-143196800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:143163800-143196400	Weak transcription	Fetal Stomach	stomach
4	chr3:143163800-143203400	Weak transcription	Ovary	ovary
5	chr3:143174400-143220400	Weak transcription	Fetal Lung	lung
6	chr3:143176800-143220400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:143177200-143200800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:143177800-143204400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:143178000-143203200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:143179400-143220400	Weak transcription	Brain Substantia Nigra	brain
11	chr3:143179800-143213400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr3:143180200-143200600	Weak transcription	Aorta	Aorta
13	chr3:143181800-143192000	Weak transcription	Small Intestine	intestine
14	chr3:143183200-143193000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:143183800-143192000	Weak transcription	Spleen	Spleen
16	chr3:143184200-143196800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:143184200-143198600	Weak transcription	Colonic Mucosa	Colon
18	chr3:143185800-143213800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:143186000-143191600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr3:143186000-143191800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:143186000-143201200	Weak transcription	Adipose Nuclei	Adipose
22	chr3:143186000-143215600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:143186000-143223000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr3:143186400-143204400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:143189800-143192400	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:143190000-143191400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:143190000-143191400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:143190000-143191400	Enhancers	Primary B cells from cord blood	blood
29	chr3:143190000-143191800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr3:143190200-143191400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:143190800-143191400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:143190800-143191400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr3:143191000-143191600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr3:143191200-143196400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:143191200-143196400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:143191200-143196800	Weak transcription	Dnd41	blood
37	chr3:143191200-143197000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:143191200-143197000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:143191200-143211000	Weak transcription	Primary T cells from cord blood	blood
40	chr3:143191400-143196400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:143191400-143196600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr3:143191400-143231000	Weak transcription	Primary B cells from cord blood	blood
43	chr3:143191600-143192400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr3:143191600-143197000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr3:143191800-143192400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr3:143191800-143196200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:143192000-143192200	Enhancers	Spleen	Spleen
48	chr3:143192000-143192200	Enhancers	K562	blood
49	chr3:143192200-143192800	Weak transcription	Spleen	Spleen
50	chr3:143192200-143196400	Weak transcription	K562	blood

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