Variant report

Variant	esv3322121
Chromosome Location	chr3:160233958-160238156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:160238089-160238114	K562	blood:	n/a	n/a
2	CTCF	chr3:160236650-160236695	Kidney_OC	kidney:	n/a	n/a
3	CUX1	chr3:160237895-160237951	K562	blood:	n/a	n/a
4	FOS	chr3:160235224-160235418	MCF10A-Er-Src	breast:	n/a	n/a
5	MAX	chr3:160236911-160236929	NB4	blood:	n/a	n/a
6	POLR2A	chr3:160234775-160235470	K562	blood:	n/a	n/a
7	POLR2A	chr3:160235065-160235131	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr3:160235151-160235229	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr3:160235047-160235082	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:160238082-160238099	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr3:160236486-160236654	HepG2	liver:	n/a	n/a
12	POLR2A	chr3:160234859-160235108	A549	lung:	n/a	n/a
13	POLR2A	chr3:160234252-160234408	Hela-S3	cervix:	n/a	n/a
14	TCF7L2	chr3:160234341-160234464	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160167035..160169821-chr3:160232708..160234646,2	K562	blood:
2	chr3:160220685..160224773-chr3:160234023..160237053,3	MCF-7	breast:
3	chr3:160223761..160225418-chr3:160235399..160237999,2	K562	blood:

No data

Variant related genes	Relation type
SCARNA7	TF binding region
ENSG00000213186	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs377229190	chr3:160233981-160233982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558580679	chr3:160233986-160233987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572203978	chr3:160233999-160234000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371248712	chr3:160234002-160234003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113452603	chr3:160234043-160234044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555127902	chr3:160234045-160234046	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532740544	chr3:160234049-160234050	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574959868	chr3:160234060-160234061	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544064122	chr3:160234069-160234070	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563840430	chr3:160234072-160234073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185854296	chr3:160234082-160234083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545022117	chr3:160234107-160234108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564917390	chr3:160234132-160234133	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190571895	chr3:160234137-160234138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183123529	chr3:160234179-160234180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs202203493	chr3:160234230-160234231	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112115015	chr3:160234231-160234232	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs398106644	chr3:160234242-160234243	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs568949734	chr3:160234260-160234261	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142158207	chr3:160234430-160234431	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529864173	chr3:160234432-160234433	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs550009312	chr3:160234438-160234439	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs151177119	chr3:160234473-160234474	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140219513	chr3:160234487-160234488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577733989	chr3:160234502-160234503	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535094345	chr3:160234511-160234512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554785990	chr3:160234523-160234524	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150315079	chr3:160234535-160234536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146426461	chr3:160234544-160234545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71312302	chr3:160234562-160234563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71314003	chr3:160234570-160234571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557638321	chr3:160234636-160234637	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140755363	chr3:160234711-160234712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28705750	chr3:160234748-160234749	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs564854694	chr3:160234770-160234771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572094683	chr3:160234815-160234816	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200436787	chr3:160234825-160234826	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs541088556	chr3:160234859-160234860	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs560829824	chr3:160234937-160234938	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529849902	chr3:160234951-160234952	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs549706669	chr3:160234952-160234953	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs563182837	chr3:160235051-160235052	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs532257562	chr3:160235060-160235061	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs145189903	chr3:160235075-160235076	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs558439610	chr3:160235100-160235101	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs139009071	chr3:160235142-160235143	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs187776866	chr3:160235166-160235167	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548621111	chr3:160235171-160235172	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs540167537	chr3:160235196-160235197	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs568461566	chr3:160235233-160235234	Weak transcription Strong transcription	TF binding region	1 gene(s)	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160204000-160238200	Weak transcription	Small Intestine	intestine
2	chr3:160215600-160254200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:160215800-160254000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:160215800-160254200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:160215800-160254200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:160216000-160254200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr3:160216200-160249200	Strong transcription	Liver	Liver
8	chr3:160216200-160254200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:160216400-160254400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:160216800-160253800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:160217200-160254000	Strong transcription	Dnd41	blood
12	chr3:160217400-160259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:160217800-160235000	Weak transcription	Fetal Brain Male	brain
14	chr3:160218800-160244800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:160219800-160242200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:160219800-160263600	Weak transcription	Right Ventricle	heart
17	chr3:160220600-160246200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:160220600-160261200	Weak transcription	Pancreas	Pancrea
19	chr3:160221600-160249000	Strong transcription	HUVEC	blood vessel
20	chr3:160222200-160244600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:160223400-160243000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:160225600-160259800	Weak transcription	Stomach Mucosa	stomach
23	chr3:160225800-160236800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:160226000-160235000	Weak transcription	Fetal Heart	heart
25	chr3:160226000-160244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:160227000-160234800	Weak transcription	Psoas Muscle	Psoas
27	chr3:160227200-160234000	Weak transcription	Esophagus	oesophagus
28	chr3:160227200-160234800	Weak transcription	NHLF	lung
29	chr3:160227200-160238600	Weak transcription	Brain Angular Gyrus	brain
30	chr3:160227200-160238800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:160227400-160238600	Weak transcription	Brain Substantia Nigra	brain
32	chr3:160227800-160236200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:160229000-160253400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:160229200-160239000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr3:160229200-160247000	Strong transcription	Adipose Nuclei	Adipose
36	chr3:160229200-160252800	Strong transcription	Fetal Thymus	thymus
37	chr3:160229200-160253400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:160229200-160253400	Strong transcription	Osteobl	bone
39	chr3:160229200-160253600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:160229200-160254000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:160229200-160254000	Strong transcription	Placenta	Placenta
42	chr3:160229400-160237200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:160229600-160245200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:160229600-160253400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:160229600-160253600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:160229800-160240200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr3:160229800-160253200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr3:160229800-160253400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:160229800-160253600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:160229800-160253600	Strong transcription	HSMM	muscle

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