Variant report

Variant	esv3372221
Chromosome Location	chr12:1712091-1716389
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1709780..1712426-chr12:1712979..1714739,2	K562	blood:
2	chr12:1713956..1716010-chr12:1769729..1772627,2	K562	blood:
3	chr12:1699689..1706116-chr12:1713524..1719359,13	MCF-7	breast:
4	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:
5	chr12:1713456..1716341-chr12:1722548..1725972,3	K562	blood:
6	chr12:1713181..1716889-chr12:1718186..1722611,7	K562	blood:
7	chr12:1702465..1707367-chr12:1707740..1717720,20	K562	blood:
8	chr12:1713815..1716830-chr12:1725934..1728212,3	K562	blood:
9	chr12:679647..681193-chr12:1713500..1715289,2	K562	blood:
10	chr12:1714073..1716320-chr12:1769729..1772377,3	K562	blood:
11	chr12:1712100..1714681-chr12:1718212..1720734,2	K562	blood:
12	chr12:1710106..1713185-chr12:1713839..1716585,4	K562	blood:
13	chr12:1699199..1708657-chr12:1712989..1721243,16	MCF-7	breast:
14	chr12:1714212..1714749-chr12:1739345..1739945,2	MCF-7	breast:
15	chr12:1709780..1712426-chr12:1712979..1714739,2	K562	blood:
16	chr12:1710106..1713185-chr12:1713839..1716585,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111186	chromatin interactions
ENSG00000171823	chromatin interactions

Extended variants
information (count: 263 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12828057	chr12:1712109-1712110	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116042269	chr12:1712142-1712143	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77607565	chr12:1712151-1712152	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535894369	chr12:1712154-1712155	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112166152	chr12:1712239-1712240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557194169	chr12:1712252-1712253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545041798	chr12:1712253-1712254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112054898	chr12:1712254-1712255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190720436	chr12:1712308-1712309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182960504	chr12:1712322-1712323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187061009	chr12:1712328-1712329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114704832	chr12:1712329-1712330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574578661	chr12:1712330-1712331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190302581	chr12:1712331-1712332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182881523	chr12:1712337-1712338	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112608101	chr12:1712344-1712345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554137327	chr12:1712354-1712355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77711175	chr12:1712393-1712394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540167447	chr12:1712428-1712429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs116527462	chr12:1712466-1712467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79731268	chr12:1712514-1712515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149717252	chr12:1712527-1712528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs4766395	chr12:1712533-1712534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs147811021	chr12:1712537-1712538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141235325	chr12:1712541-1712542	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567827806	chr12:1712615-1712616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs146946725	chr12:1712660-1712661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7313870	chr12:1712673-1712674	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149026063	chr12:1712762-1712763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551441185	chr12:1712796-1712797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115006942	chr12:1712827-1712828	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528753101	chr12:1712837-1712838	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs143834119	chr12:1712839-1712840	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187518930	chr12:1712867-1712868	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535685102	chr12:1712891-1712892	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551034225	chr12:1712963-1712964	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528992257	chr12:1712991-1712992	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547071338	chr12:1712993-1712994	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74547240	chr12:1713021-1713022	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376162392	chr12:1713034-1713035	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs193198943	chr12:1713038-1713039	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148164174	chr12:1713052-1713053	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141970297	chr12:1713097-1713098	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573764276	chr12:1713101-1713102	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544103658	chr12:1713112-1713113	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73607812	chr12:1713212-1713213	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372784674	chr12:1713218-1713219	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545132899	chr12:1713225-1713226	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560141264	chr12:1713239-1713240	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527308795	chr12:1713248-1713249	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1704800-1713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:1704800-1714000	Weak transcription	Esophagus	oesophagus
3	chr12:1704800-1714200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:1704800-1714200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:1705000-1713600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:1705000-1713800	Weak transcription	HMEC	breast
7	chr12:1705200-1713800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:1705400-1713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:1705600-1714000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:1705600-1714400	Weak transcription	Fetal Brain Female	brain
11	chr12:1706400-1714400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:1710400-1713800	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:1711000-1713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:1711000-1714200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:1711000-1714200	Weak transcription	Brain Anterior Caudate	brain
16	chr12:1711000-1714200	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:1711000-1714400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:1711000-1714600	Weak transcription	Brain Angular Gyrus	brain
19	chr12:1711200-1712200	Enhancers	HSMM	muscle
20	chr12:1711200-1712800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:1711200-1713600	Weak transcription	NHLF	lung
22	chr12:1711200-1713800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:1711200-1713800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:1711200-1713800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:1711200-1714200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:1711200-1714200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:1711200-1714200	Weak transcription	Liver	Liver
28	chr12:1711200-1714200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:1711200-1714200	Weak transcription	Placenta	Placenta
30	chr12:1711200-1714200	Weak transcription	Ovary	ovary
31	chr12:1711200-1714200	Weak transcription	Right Atrium	heart
32	chr12:1711200-1714200	Weak transcription	Stomach Mucosa	stomach
33	chr12:1711200-1714200	Weak transcription	A549	lung
34	chr12:1711200-1714200	Enhancers	Osteobl	bone
35	chr12:1711200-1714400	Weak transcription	Fetal Intestine Large	intestine
36	chr12:1711200-1714600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:1711200-1714600	Weak transcription	Brain Substantia Nigra	brain
38	chr12:1711200-1714600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:1711400-1712200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:1711400-1712200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr12:1711400-1714200	Enhancers	NHDF-Ad	bronchial
42	chr12:1711400-1714600	Weak transcription	HUVEC	blood vessel
43	chr12:1711600-1712200	Bivalent Enhancer	HepG2	liver
44	chr12:1711600-1712600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr12:1711600-1713200	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:1711600-1713800	Weak transcription	Adipose Nuclei	Adipose
47	chr12:1711600-1714200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:1711600-1714200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:1711600-1714200	Weak transcription	Colonic Mucosa	Colon
50	chr12:1711600-1714200	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links