Variant report

Variant	esv15321
Chromosome Location	chr12:106162101-106182216
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:106168262..106170732-chr12:106528906..106531408,2	MCF-7	breast:
2	chr12:106168956..106169805-chr12:106529679..106530573,5	MCF-7	breast:
3	chr12:106169085..106169798-chr12:106254145..106255071,2	MCF-7	breast:
4	chr12:106160229..106162782-chr12:106166515..106168634,2	K562	blood:
5	chr12:106156670..106158868-chr12:106164100..106166164,2	K562	blood:
6	chr12:106161843..106164746-chr12:106523711..106526415,2	MCF-7	breast:
7	chr12:106166809..106169748-chr12:106534661..106536595,2	MCF-7	breast:
8	chr12:106167922..106169528-chr12:106254907..106257497,2	MCF-7	breast:
9	chr12:106182161..106184714-chr12:106186806..106189552,4	MCF-7	breast:
10	chr12:106148181..106150211-chr12:106176354..106177966,2	K562	blood:
11	chr12:106179183..106181171-chr12:106189887..106191986,2	K562	blood:
12	chr12:106167188..106170393-chr12:106530093..106534046,5	MCF-7	breast:
13	chr12:106160229..106162782-chr12:106166515..106168634,2	K562	blood:
14	chr12:106164560..106166544-chr12:106529852..106531635,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUAK1-3	chr12:106180061-106180262	XLOC_010185
2	lnc-NUAK1-3	chr12:106180060-106180262	NONHSAT030462

No data

Variant related genes	Relation type
ENSG00000074590	chromatin interactions

Extended variants
information (count: 751 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11112724	chr12:106162116-106162117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143839495	chr12:106162125-106162126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574293990	chr12:106162166-106162167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4609683	chr12:106162169-106162170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186396641	chr12:106162172-106162173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11112725	chr12:106162184-106162185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573499022	chr12:106162229-106162230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545586927	chr12:106162246-106162247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564867549	chr12:106162247-106162248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373500378	chr12:106162282-106162283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4600310	chr12:106162405-106162406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs543920666	chr12:106162436-106162437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560946934	chr12:106162494-106162495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529610577	chr12:106162525-106162526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78449528	chr12:106162550-106162551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4609684	chr12:106162561-106162562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554551744	chr12:106162626-106162627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572853005	chr12:106162644-106162645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190143587	chr12:106162687-106162688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374166092	chr12:106162693-106162694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181894480	chr12:106162838-106162839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559025154	chr12:106162874-106162875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73188309	chr12:106162885-106162886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149008585	chr12:106162886-106162887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567655278	chr12:106162960-106162961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143797684	chr12:106162963-106162964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553719452	chr12:106162974-106162975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573564768	chr12:106162987-106162988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147986083	chr12:106163026-106163027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577051306	chr12:106163033-106163034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559106347	chr12:106163034-106163035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575286510	chr12:106163047-106163048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544296219	chr12:106163070-106163071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544125822	chr12:106163075-106163076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78522453	chr12:106163088-106163089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35671693	chr12:106163154-106163155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577142436	chr12:106163166-106163167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77501397	chr12:106163176-106163177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147949104	chr12:106163254-106163255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377537780	chr12:106163259-106163260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12304005	chr12:106163268-106163269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560044017	chr12:106163294-106163295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532270073	chr12:106163305-106163306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574595862	chr12:106163332-106163333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551992433	chr12:106163381-106163382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11112726	chr12:106163445-106163446	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370555906	chr12:106163497-106163498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7956555	chr12:106163507-106163508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551075312	chr12:106163551-106163552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567619932	chr12:106163594-106163595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
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
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106155200-106164600	Weak transcription	HSMMtube	muscle
2	chr12:106159200-106163400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:106162000-106162200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:106162000-106162200	Enhancers	GM12878-XiMat	blood
5	chr12:106162000-106164400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:106162400-106163400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:106163200-106163400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:106163400-106163800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:106163400-106163800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:106163400-106164000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:106163400-106164600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:106163600-106166400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:106164000-106166800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:106164600-106166000	Strong transcription	HSMMtube	muscle
15	chr12:106165600-106168200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:106165800-106166200	Enhancers	Stomach Smooth Muscle	stomach
17	chr12:106166000-106166800	Weak transcription	HSMMtube	muscle
18	chr12:106166200-106166400	Enhancers	Lung	lung
19	chr12:106166200-106166600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:106166200-106168000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:106166400-106167400	Weak transcription	Lung	lung
22	chr12:106166400-106167800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:106166600-106166800	Weak transcription	Right Atrium	heart
24	chr12:106166600-106167200	Enhancers	Fetal Stomach	stomach
25	chr12:106166600-106167800	Enhancers	Stomach Smooth Muscle	stomach
26	chr12:106166800-106167200	Enhancers	Fetal Kidney	kidney
27	chr12:106166800-106167600	Enhancers	Aorta	Aorta
28	chr12:106166800-106167600	Enhancers	Colon Smooth Muscle	Colon
29	chr12:106166800-106167600	Enhancers	Fetal Lung	lung
30	chr12:106166800-106167600	Enhancers	Ovary	ovary
31	chr12:106166800-106167600	Enhancers	Right Atrium	heart
32	chr12:106166800-106167600	Enhancers	Right Ventricle	heart
33	chr12:106166800-106167600	Enhancers	HSMMtube	muscle
34	chr12:106166800-106167800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:106166800-106167800	Enhancers	Fetal Muscle Leg	muscle
36	chr12:106166800-106167800	Enhancers	Left Ventricle	heart
37	chr12:106166800-106168200	Enhancers	Brain Anterior Caudate	brain
38	chr12:106167000-106167400	Enhancers	Rectal Smooth Muscle	rectum
39	chr12:106167000-106167600	Enhancers	Spleen	Spleen
40	chr12:106167000-106167800	Enhancers	Brain Substantia Nigra	brain
41	chr12:106167200-106167800	Enhancers	Brain Germinal Matrix	brain
42	chr12:106167200-106168800	Weak transcription	Fetal Kidney	kidney
43	chr12:106167400-106167800	Enhancers	Lung	lung
44	chr12:106167600-106168800	Genic enhancers	HSMMtube	muscle
45	chr12:106167600-106169200	Weak transcription	Right Atrium	heart
46	chr12:106167800-106169200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:106168800-106169400	Enhancers	Fetal Kidney	kidney
48	chr12:106168800-106177600	Weak transcription	HSMMtube	muscle
49	chr12:106169000-106169600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:106169200-106169400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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