Variant report

Variant	esv3413766
Chromosome Location	chr12:26106544-26107734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:26107060-26107210	HRPEpiC	eye:	n/a	n/a
2	CTCF	chr12:26107040-26107190	SK-N-SH_RA	brain:	n/a	n/a
3	JUND	chr12:26106978-26106981	H1-hESC	embryonic stem cell:	n/a	n/a
4	SRF	chr12:26107191-26107690	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:26103913..26105665-chr12:26106928..26108647,2	MCF-7	breast:
2	chr12:26107603..26109573-chr12:26124823..26126965,2	K562	blood:
3	chr12:26105978..26107821-chr12:26108027..26109546,2	MCF-7	breast:
4	chr12:26107125..26109528-chr12:26109576..26111769,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHE41-2	chr12:26105691-26109280	NONHSAT027366
2	lnc-BHLHE41-2	chr12:26107255-26108174	NONHSAT027377
3	lnc-BHLHE41-2	chr12:26107588-26108174	NONHSAT027378
4	lnc-BHLHE41-2	chr12:26107588-26108174	NR_038228
5	lnc-BHLHE41-2	chr12:26107588-26108174	ENSG00000246695

No data

Variant related genes	Relation type
RASSF8	TF binding region
ENSG00000246695	chromatin interactions
ENSG00000123094	chromatin interactions
USP28	miRNA target sites

Extended variants
information (count: 50 )
Associated
traits (count: 89 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377007264	chr12:26106549-26106550	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs146905377	chr12:26106550-26106551	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs548884953	chr12:26106580-26106581	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs562498670	chr12:26106584-26106585	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533517681	chr12:26106635-26106636	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs545165730	chr12:26106638-26106639	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs560572490	chr12:26106644-26106645	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs373723404	chr12:26106651-26106652	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs370528836	chr12:26106683-26106684	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs183605455	chr12:26106709-26106710	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs149840320	chr12:26106741-26106742	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs375141953	chr12:26106743-26106744	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs74072258	chr12:26106768-26106769	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs58615143	chr12:26106772-26106773	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs114150638	chr12:26106773-26106774	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs571744475	chr12:26106791-26106792	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs539560272	chr12:26106822-26106823	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs551173407	chr12:26106848-26106849	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs370909120	chr12:26106852-26106853	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs534246020	chr12:26106863-26106864	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547923161	chr12:26106881-26106882	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs145676565	chr12:26106883-26106884	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs566533615	chr12:26106891-26106892	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs706515	chr12:26106907-26106908	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555363206	chr12:26106943-26106944	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs76870888	chr12:26106977-26106978	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs538137010	chr12:26106981-26106982	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs118168000	chr12:26107051-26107052	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs74072261	chr12:26107054-26107055	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545509746	chr12:26107113-26107114	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs192499839	chr12:26107128-26107129	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs73292757	chr12:26107129-26107130	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs706516	chr12:26107172-26107173	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569691281	chr12:26107181-26107182	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs560900532	chr12:26107303-26107304	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs531930324	chr12:26107355-26107356	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs113050789	chr12:26107357-26107358	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs34638473	chr12:26107358-26107359	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs147922718	chr12:26107366-26107367	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs73292759	chr12:26107383-26107384	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114717644	chr12:26107494-26107495	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs118026244	chr12:26107526-26107527	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs183093902	chr12:26107537-26107538	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs141766596	chr12:26107561-26107562	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs74072263	chr12:26107645-26107646	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79426511	chr12:26107668-26107669	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs186705056	chr12:26107677-26107678	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs529306178	chr12:26107686-26107687	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs148001498	chr12:26107724-26107725	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs374815351	chr12:26107725-26107726	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	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
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26090200-26110200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:26090400-26107800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:26091000-26107000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:26091400-26110000	Weak transcription	Psoas Muscle	Psoas
7	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:26092400-26108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:26092800-26109400	Weak transcription	Ovary	ovary
10	chr12:26093400-26110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:26095800-26108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:26096200-26107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:26096600-26107000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:26096600-26107000	Weak transcription	Left Ventricle	heart
16	chr12:26097400-26107000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:26097400-26110600	Weak transcription	Right Ventricle	heart
18	chr12:26097600-26107000	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:26097600-26110400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr12:26098000-26110200	Weak transcription	HSMM	muscle
21	chr12:26099000-26107000	Weak transcription	NHDF-Ad	bronchial
22	chr12:26099800-26107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:26099800-26110200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:26101400-26110600	Weak transcription	Placenta	Placenta
25	chr12:26102800-26107800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:26104000-26109400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:26104000-26110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:26104200-26107000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:26104200-26107000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:26104200-26107000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:26104200-26110200	Weak transcription	NH-A	brain
32	chr12:26104200-26110200	Weak transcription	NHEK	skin
33	chr12:26104200-26110600	Weak transcription	Liver	Liver
34	chr12:26104400-26106600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:26104400-26107200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:26104400-26110400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:26104600-26109600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:26104600-26110000	Weak transcription	Hela-S3	cervix
39	chr12:26105400-26110000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:26105400-26110200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:26105600-26109200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:26105600-26110000	Weak transcription	NHLF	lung
43	chr12:26105800-26110600	Weak transcription	Fetal Intestine Small	intestine
44	chr12:26105800-26110600	Weak transcription	HSMMtube	muscle
45	chr12:26106000-26106800	Weak transcription	Osteobl	bone
46	chr12:26106000-26107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:26106000-26110800	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:26106200-26107000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:26106400-26110200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr12:26106400-26110600	Weak transcription	Adipose Nuclei	Adipose

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