Variant report

Variant	esv3356342
Chromosome Location	chr12:105549022-105550020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:105549721-105549791	K562	blood:	n/a	n/a

Variant related genes	Relation type
KIAA1033	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567609168	chr12:105549067-105549068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75665892	chr12:105549102-105549103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191032385	chr12:105549153-105549154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552371341	chr12:105549159-105549160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80193242	chr12:105549173-105549174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1663563	chr12:105549209-105549210	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs11339981	chr12:105549253-105549254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72158891	chr12:105549258-105549259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9308319	chr12:105549259-105549260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113961760	chr12:105549260-105549261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538982725	chr12:105549263-105549264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11339980	chr12:105549268-105549269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11339979	chr12:105549272-105549273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11339978	chr12:105549282-105549283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11339977	chr12:105549286-105549287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113741965	chr12:105549289-105549290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372080644	chr12:105549290-105549291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375834798	chr12:105549291-105549292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558707180	chr12:105549309-105549310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113458880	chr12:105549330-105549331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370232027	chr12:105549346-105549347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11341382	chr12:105549358-105549359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544288131	chr12:105549371-105549372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182776756	chr12:105549412-105549413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574343639	chr12:105549464-105549465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539861201	chr12:105549480-105549481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28687963	chr12:105549487-105549488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
28	rs532424207	chr12:105549488-105549489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11341381	chr12:105549495-105549496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577613496	chr12:105549551-105549552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562662940	chr12:105549591-105549592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188429793	chr12:105549621-105549622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191251003	chr12:105549688-105549689	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544772638	chr12:105549691-105549692	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35156392	chr12:105549698-105549699	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183003117	chr12:105549733-105549734	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs142889950	chr12:105549751-105549752	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376727929	chr12:105549790-105549791	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs112804114	chr12:105549795-105549796	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117033563	chr12:105549806-105549807	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147685151	chr12:105549807-105549808	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111465270	chr12:105549811-105549812	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569395997	chr12:105549833-105549834	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2464189	chr12:105549840-105549841	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114547871	chr12:105549895-105549896	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555731113	chr12:105549911-105549912	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116783553	chr12:105549947-105549948	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540348882	chr12:105549987-105549988	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:105506800-105568800	Strong transcription	Dnd41	blood
11	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel
16	chr12:105507600-105572800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:105507800-105563800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:105507800-105573200	Strong transcription	Placenta	Placenta
19	chr12:105508000-105549200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:105508000-105550400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:105508000-105565400	Strong transcription	Adipose Nuclei	Adipose
22	chr12:105508200-105572800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:105508400-105562000	Strong transcription	Primary B cells from cord blood	blood
24	chr12:105508600-105573000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:105508800-105565000	Strong transcription	Liver	Liver
26	chr12:105510000-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:105513800-105567800	Weak transcription	Pancreas	Pancrea
28	chr12:105515200-105557600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:105517800-105555200	Weak transcription	Small Intestine	intestine
30	chr12:105518600-105573200	Strong transcription	HSMM	muscle
31	chr12:105519400-105558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:105520000-105550000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:105522600-105557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:105522600-105586000	Weak transcription	Stomach Mucosa	stomach
35	chr12:105524600-105578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:105525400-105583200	Weak transcription	Fetal Heart	heart
37	chr12:105527200-105565400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:105528800-105549800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:105529800-105549200	Strong transcription	NH-A	brain
40	chr12:105529800-105571400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:105531200-105557200	Weak transcription	Gastric	stomach
42	chr12:105531200-105557400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:105531600-105550400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:105532200-105552000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:105532400-105577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:105533200-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:105533400-105549200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:105533800-105550000	Strong transcription	Fetal Intestine Large	intestine
49	chr12:105534000-105556600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:105534600-105554000	Strong transcription	A549	lung

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