Variant report

Variant	esv3344884
Chromosome Location	chr12:104868347-104871195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104681309..104682923-chr12:104867248..104870196,2	K562	blood:
2	chr12:104849668..104855401-chr12:104869919..104879346,13	K562	blood:
3	chr12:104857257..104859525-chr12:104868712..104871497,3	K562	blood:
4	chr12:104866750..104869514-chr12:104871657..104874435,3	K562	blood:
5	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:
6	chr12:104869578..104872458-chr12:104877687..104880614,4	K562	blood:
7	chr12:104867859..104869379-chr12:104998403..105000393,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198431	chromatin interactions
ENSG00000171310	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149863362	chr12:104868468-104868469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs180772778	chr12:104868472-104868473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551649378	chr12:104868513-104868514	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563778014	chr12:104868539-104868540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569743150	chr12:104868562-104868563	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368799425	chr12:104868575-104868576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186408513	chr12:104868586-104868587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555165599	chr12:104868658-104868659	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571978041	chr12:104868666-104868667	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547357977	chr12:104868672-104868673	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567789591	chr12:104868694-104868695	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111247055	chr12:104868732-104868733	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577216518	chr12:104868741-104868742	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546267125	chr12:104868747-104868748	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191360593	chr12:104868751-104868752	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181843506	chr12:104868884-104868885	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186093542	chr12:104869040-104869041	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141052055	chr12:104869087-104869088	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527973426	chr12:104869104-104869105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548135562	chr12:104869119-104869120	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs200679516	chr12:104869123-104869124	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11112071	chr12:104869145-104869146	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11112072	chr12:104869221-104869222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532599285	chr12:104869364-104869365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191202376	chr12:104869391-104869392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532751941	chr12:104869412-104869413	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115028536	chr12:104869434-104869435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs199799107	chr12:104869435-104869436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370317240	chr12:104869437-104869438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74241087	chr12:104869438-104869439	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201483678	chr12:104869440-104869441	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370718845	chr12:104869452-104869453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372675969	chr12:104869454-104869455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376939231	chr12:104869456-104869457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371136660	chr12:104869459-104869460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374471244	chr12:104869461-104869462	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376933256	chr12:104869464-104869465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369112744	chr12:104869466-104869467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6144846	chr12:104869469-104869470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368343442	chr12:104869472-104869473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370622788	chr12:104869474-104869475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199863408	chr12:104869581-104869582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4964807	chr12:104869587-104869588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111389369	chr12:104869676-104869677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs569622078	chr12:104869688-104869689	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs149050840	chr12:104869689-104869690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141111395	chr12:104869690-104869691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs71440547	chr12:104869691-104869692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187774946	chr12:104869701-104869702	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12300557	chr12:104869783-104869784	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	21339820	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

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:104855200-104868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:104857000-104873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:104857200-104869200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:104857600-104869200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:104857800-104871800	Weak transcription	Right Atrium	heart
10	chr12:104857800-104873600	Weak transcription	A549	lung
11	chr12:104859200-104879800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:104861800-104869200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr12:104863400-104869600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:104863400-104879200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:104864400-104869600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:104864600-104868800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr12:104865200-104869400	Enhancers	Primary hematopoietic stem cells	blood
18	chr12:104865400-104869400	Enhancers	Fetal Thymus	thymus
19	chr12:104865600-104874600	Weak transcription	HMEC	breast
20	chr12:104865800-104869400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr12:104866000-104869600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:104866200-104869200	Enhancers	Primary T cells from cord blood	blood
23	chr12:104866200-104869400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:104866200-104869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:104866200-104869400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:104866400-104868400	Flanking Active TSS	GM12878-XiMat	blood
27	chr12:104866400-104868600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:104866400-104869200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:104866600-104882400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:104866800-104869000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:104866800-104869200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:104866800-104870800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:104867000-104868600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:104867000-104869400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:104867200-104868600	Weak transcription	Stomach Mucosa	stomach
36	chr12:104867200-104869400	Enhancers	Small Intestine	intestine
37	chr12:104867400-104868600	Weak transcription	Gastric	stomach
38	chr12:104867400-104869000	Weak transcription	K562	blood
39	chr12:104867400-104871800	Weak transcription	Lung	lung
40	chr12:104867400-104872000	Weak transcription	NH-A	brain
41	chr12:104867400-104872200	Weak transcription	NHLF	lung
42	chr12:104867400-104874400	Weak transcription	Brain Germinal Matrix	brain
43	chr12:104867400-104874400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:104867600-104868600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:104867600-104868600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr12:104867600-104868600	Weak transcription	Fetal Stomach	stomach
47	chr12:104867600-104868800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:104867600-104869200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:104867600-104869200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:104867600-104869400	Enhancers	Primary T helper cells PMA-I stimulated	--

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