Variant report

Variant	esv3447181
Chromosome Location	chr12:106132354-106138639
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:6)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106125356..106127672-chr12:106133504..106135544,2	MCF-7	breast:
2	chr12:106133734..106136085-chr12:106136351..106138075,2	MCF-7	breast:
3	chr12:106133734..106136085-chr12:106136351..106138075,2	MCF-7	breast:
4	chr12:106134598..106137615-chr12:106531407..106534871,3	MCF-7	breast:
5	chr12:106133184..106135047-chr12:106140177..106142971,2	K562	blood:
6	chr12:106135266..106136098-chr12:106254116..106254831,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf75-2	chr12:106135534-106136007	ENSG00000257859
2	lnc-C12orf75-2	chr12:106135534-106137841	NR_110109
3	lnc-C12orf75-2	chr12:106135534-106137841	NR_110111
4	lnc-C12orf75-2	chr12:106135534-106137841	NR_110108
5	lnc-NUAK1-4	chr12:106136548-106136683	XLOC_010184
6	lnc-C12orf75-2	chr12:106135534-106137841	NR_110110
7	lnc-C12orf75-2	chr12:106135534-106137840	ENSG00000257859

No data

Variant related genes	Relation type
ENSG00000074590	chromatin interactions
ZNF275	miRNA target sites
MAP3K7	miRNA target sites

Extended variants
information (count: 252 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:252 , 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	rs534820682	chr12:106132384-106132385	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs557936943	chr12:106132391-106132392	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs570979407	chr12:106132406-106132407	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs58941654	chr12:106132435-106132436	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs181687395	chr12:106132440-106132441	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs576356529	chr12:106132460-106132461	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs148738111	chr12:106132461-106132462	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs374525142	chr12:106132487-106132488	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs555794861	chr12:106132488-106132489	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs73399349	chr12:106132491-106132492	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541251347	chr12:106132492-106132493	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs184155223	chr12:106132543-106132544	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs532899862	chr12:106132555-106132556	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs543091022	chr12:106132556-106132557	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs188830698	chr12:106132558-106132559	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs149418241	chr12:106132600-106132601	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs377258865	chr12:106132601-106132602	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs180705812	chr12:106132624-106132625	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs548920294	chr12:106132648-106132649	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs559390741	chr12:106132707-106132708	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs73399352	chr12:106132778-106132779	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73399355	chr12:106132799-106132800	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571447066	chr12:106132808-106132809	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113201828	chr12:106132846-106132847	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372411493	chr12:106132849-106132850	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112490881	chr12:106132851-106132852	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73399357	chr12:106132903-106132904	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185960193	chr12:106132944-106132945	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370755698	chr12:106132965-106132966	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570091712	chr12:106132987-106132988	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553614482	chr12:106132997-106132998	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7969557	chr12:106133015-106133016	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532275980	chr12:106133044-106133045	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs59436303	chr12:106133066-106133067	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372546444	chr12:106133124-106133125	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs544068031	chr12:106133186-106133187	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs572422757	chr12:106133190-106133191	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs373434986	chr12:106133192-106133193	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs59436163	chr12:106133203-106133204	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs397942720	chr12:106133206-106133207	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371077899	chr12:106133240-106133241	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373673080	chr12:106133248-106133249	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142422831	chr12:106133259-106133260	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192164110	chr12:106133289-106133290	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376858333	chr12:106133292-106133293	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543151871	chr12:106133296-106133297	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369262892	chr12:106133305-106133306	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs151298169	chr12:106133317-106133318	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7969631	chr12:106133357-106133358	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7969638	chr12:106133362-106133363	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	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:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106126600-106133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:106127200-106132400	Weak transcription	Lung	lung
3	chr12:106127400-106134600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:106127600-106132400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:106129400-106133400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:106129400-106134200	Weak transcription	HSMM	muscle
7	chr12:106130000-106137800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:106130600-106133000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:106130800-106133000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:106130800-106133400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:106130800-106133600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:106130800-106134800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:106131000-106132400	Weak transcription	Right Ventricle	heart
14	chr12:106131000-106132600	Enhancers	Fetal Lung	lung
15	chr12:106131000-106133400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:106131200-106132400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:106131200-106132600	Enhancers	Fetal Heart	heart
18	chr12:106131200-106133200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:106131200-106133200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:106131400-106132400	Weak transcription	Adipose Nuclei	Adipose
21	chr12:106131400-106133200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:106131400-106134000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:106131800-106132400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:106131800-106132400	Enhancers	Osteobl	bone
25	chr12:106131800-106135000	Enhancers	Fetal Brain Male	brain
26	chr12:106131800-106136600	Enhancers	Right Atrium	heart
27	chr12:106131800-106138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:106132000-106132600	Enhancers	Fetal Muscle Trunk	muscle
29	chr12:106132000-106132600	Enhancers	Ovary	ovary
30	chr12:106132000-106132800	Enhancers	Fetal Stomach	stomach
31	chr12:106132000-106133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:106132000-106133200	Strong transcription	HSMMtube	muscle
33	chr12:106132000-106133800	Enhancers	Left Ventricle	heart
34	chr12:106132200-106132400	Flanking Active TSS	HUVEC	blood vessel
35	chr12:106132200-106132800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:106132200-106133000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr12:106132200-106136200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:106132200-106137800	Enhancers	Fetal Muscle Leg	muscle
39	chr12:106132400-106132600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:106132400-106132600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr12:106132400-106132600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:106132400-106132600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
43	chr12:106132400-106132600	Enhancers	Aorta	Aorta
44	chr12:106132400-106132600	Enhancers	Brain Anterior Caudate	brain
45	chr12:106132400-106132600	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:106132400-106132600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:106132400-106132600	Enhancers	Right Ventricle	heart
48	chr12:106132400-106132600	Enhancers	Spleen	Spleen
49	chr12:106132400-106132800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
50	chr12:106132400-106133600	Enhancers	Lung	lung

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