Variant report

Variant	esv3416278
Chromosome Location	chr12:1863291-1865339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:1863983-1863987	ProgFib	skin:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1853793..1856029-chr12:1861433..1863477,2	MCF-7	breast:
2	chr12:1856328..1858670-chr12:1861251..1864008,2	K562	blood:
3	chr12:1856721..1858693-chr12:1863172..1864680,2	MCF-7	breast:
4	chr12:1798163..1800510-chr12:1865299..1867613,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADIPOR2-1	chr12:1863424-1863680	NONHSAT025411

No data

Variant related genes	Relation type
ADIPOR2	TF binding region
ENSG00000006831	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544132646	chr12:1863309-1863310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565406831	chr12:1863320-1863321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371503522	chr12:1863336-1863337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148450408	chr12:1863344-1863345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541179465	chr12:1863345-1863346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559428790	chr12:1863406-1863407	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530171273	chr12:1863432-1863433	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs541952592	chr12:1863434-1863435	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs79694491	chr12:1863449-1863450	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs147632665	chr12:1863450-1863451	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs375897525	chr12:1863457-1863458	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs370708113	chr12:1863515-1863516	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs201213407	chr12:1863516-1863517	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs143788167	chr12:1863554-1863555	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs374120661	chr12:1863561-1863562	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs200483941	chr12:1863601-1863602	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs12298275	chr12:1863625-1863626	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs568259489	chr12:1863641-1863642	Weak transcription Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs370216596	chr12:1863704-1863705	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535572459	chr12:1863720-1863721	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11061971	chr12:1863728-1863729	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs138027743	chr12:1863751-1863752	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140620331	chr12:1863758-1863759	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539037104	chr12:1863845-1863846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139616464	chr12:1863853-1863854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375034071	chr12:1863860-1863861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112933502	chr12:1863861-1863862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71055193	chr12:1863862-1863863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10082811	chr12:1863865-1863866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541314809	chr12:1863869-1863870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553194791	chr12:1863871-1863872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574666694	chr12:1863882-1863883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548449938	chr12:1863883-1863884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145116184	chr12:1863889-1863890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59598626	chr12:1863901-1863902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542343320	chr12:1863912-1863913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541262189	chr12:1863913-1863914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563596692	chr12:1863916-1863917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530956035	chr12:1863922-1863923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575288480	chr12:1863930-1863931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183702480	chr12:1863931-1863932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537578920	chr12:1863945-1863946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528442552	chr12:1863947-1863948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546895255	chr12:1863951-1863952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568298594	chr12:1863954-1863955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202077711	chr12:1863967-1863968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367779282	chr12:1864002-1864003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568814490	chr12:1864016-1864017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539426413	chr12:1864020-1864021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557507060	chr12:1864026-1864027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
2	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
3	chr12:1823000-1866600	Weak transcription	Gastric	stomach
4	chr12:1824000-1866600	Weak transcription	HSMM	muscle
5	chr12:1826000-1885400	Weak transcription	NH-A	brain
6	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:1847600-1863800	Weak transcription	Ovary	ovary
8	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
9	chr12:1849800-1868400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:1849800-1868800	Weak transcription	Pancreas	Pancrea
11	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
12	chr12:1850000-1866600	Weak transcription	Fetal Lung	lung
13	chr12:1850200-1865800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:1850400-1863400	Weak transcription	Fetal Stomach	stomach
16	chr12:1850400-1870400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
18	chr12:1850800-1863400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:1850800-1863400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
21	chr12:1851000-1863400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:1851000-1866400	Weak transcription	NHLF	lung
23	chr12:1851400-1866600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:1851600-1863400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:1851600-1866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:1851800-1863400	Weak transcription	Thymus	Thymus
27	chr12:1851800-1863600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
29	chr12:1854400-1864400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:1854600-1863400	Weak transcription	Adipose Nuclei	Adipose
31	chr12:1854600-1863400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr12:1854600-1870400	Weak transcription	HSMMtube	muscle
33	chr12:1855600-1863400	Weak transcription	Left Ventricle	heart
34	chr12:1856000-1866400	Weak transcription	HUVEC	blood vessel
35	chr12:1856600-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:1857000-1863400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:1857000-1863800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:1857200-1863400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:1857200-1863400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:1857200-1863400	Weak transcription	NHEK	skin
41	chr12:1857200-1863600	Weak transcription	Primary T cells from cord blood	blood
42	chr12:1857200-1864400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:1857200-1864600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:1857200-1865800	Weak transcription	Primary B cells from cord blood	blood
45	chr12:1857200-1866400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:1857200-1870000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:1857400-1863400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr12:1857400-1864200	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links