Variant report

Variant	esv3341304
Chromosome Location	chr12:687991-692289
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:683860..689942-chr12:860112..864025,8	K562	blood:
2	chr12:688710..691360-chr12:698312..700613,2	K562	blood:
3	chr12:686739..689998-chr12:691265..694339,4	K562	blood:
4	chr12:689801..692487-chr12:897629..900163,2	K562	blood:
5	chr12:686739..689998-chr12:691265..694339,4	K562	blood:
6	chr12:686859..689615-chr12:851283..853925,2	MCF-7	breast:
7	chr12:691109..693273-chr12:695589..698254,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B4GALNT3-4	chr12:690328-690539	l_576_chr12:669260-707688_adipose

No data

Variant related genes	Relation type
ENSG00000238370	chromatin interactions
ENSG00000255825	chromatin interactions
ENSG00000256020	chromatin interactions
ENSG00000060237	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529903171	chr12:688003-688004	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138170598	chr12:688047-688048	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142172116	chr12:688091-688092	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568558223	chr12:688154-688155	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187601187	chr12:688160-688161	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558306344	chr12:688179-688180	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562119255	chr12:688203-688204	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529232617	chr12:688216-688217	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs1122584	chr12:688248-688249	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534733531	chr12:688310-688311	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559589640	chr12:688311-688312	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1531227	chr12:688340-688341	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572695971	chr12:688343-688344	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191010591	chr12:688371-688372	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs116441390	chr12:688403-688404	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369541238	chr12:688454-688455	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs55731920	chr12:688457-688458	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576318173	chr12:688505-688506	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569485049	chr12:688522-688523	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78058906	chr12:688526-688527	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565182291	chr12:688546-688547	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12230397	chr12:688564-688565	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541142655	chr12:688583-688584	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559092695	chr12:688600-688601	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2018395	chr12:688616-688617	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs374833298	chr12:688665-688666	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150063774	chr12:688677-688678	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs55989841	chr12:688678-688679	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs202048145	chr12:688680-688681	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs5795932	chr12:688681-688682	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545105568	chr12:688682-688683	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs534319196	chr12:688695-688696	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563587861	chr12:688720-688721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs374133478	chr12:688734-688735	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs553057481	chr12:688761-688762	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs530758046	chr12:688771-688772	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs145948014	chr12:688810-688811	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs558937730	chr12:688873-688874	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs187836167	chr12:688884-688885	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs192274628	chr12:688907-688908	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs571346093	chr12:688945-688946	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs534674331	chr12:688962-688963	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs11063697	chr12:688978-688979	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs546741820	chr12:688992-688993	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs1123529	chr12:688993-688994	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs536863634	chr12:689014-689015	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs1123528	chr12:689059-689060	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs576672537	chr12:689062-689063	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs576665812	chr12:689073-689074	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs541235417	chr12:689075-689076	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Cancer	20164920	CNVD
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
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	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
Acute myeloid leukemia	20729466	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:680800-688000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:681000-688000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:682000-690600	Enhancers	HepG2	liver
4	chr12:682000-692800	Weak transcription	Gastric	stomach
5	chr12:684600-689000	Enhancers	Liver	Liver
6	chr12:685800-688000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:685800-688000	Weak transcription	Fetal Lung	lung
8	chr12:685800-688200	Weak transcription	Fetal Brain Female	brain
9	chr12:685800-688400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:685800-688400	Weak transcription	Lung	lung
11	chr12:685800-689800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:685800-692200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:685800-692600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:685800-694400	Weak transcription	Spleen	Spleen
15	chr12:685800-700400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:686000-688000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:686000-688000	Weak transcription	NHEK	skin
18	chr12:686000-688200	Weak transcription	HSMM	muscle
19	chr12:686000-688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:686000-692200	Weak transcription	Pancreas	Pancrea
21	chr12:686000-692600	Weak transcription	Right Atrium	heart
22	chr12:686000-694400	Weak transcription	GM12878-XiMat	blood
23	chr12:686000-695400	Weak transcription	Esophagus	oesophagus
24	chr12:686200-688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:686200-688000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:686200-688200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:686200-688200	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:686200-689800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr12:686200-690800	Weak transcription	Psoas Muscle	Psoas
30	chr12:686200-694800	Weak transcription	Stomach Mucosa	stomach
31	chr12:686200-716200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:686400-688000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:686600-689000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:686600-700400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:687000-689400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:687400-688200	Enhancers	A549	lung
37	chr12:687400-688200	Enhancers	K562	blood
38	chr12:687400-688400	Enhancers	Adipose Nuclei	Adipose
39	chr12:687400-688600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:687400-688800	Enhancers	Brain Anterior Caudate	brain
41	chr12:687400-688800	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:687400-688800	Enhancers	Brain Substantia Nigra	brain
43	chr12:687400-688800	Enhancers	Left Ventricle	heart
44	chr12:687400-689000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:687400-689000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:687400-689000	Enhancers	Placenta	Placenta
47	chr12:687400-689000	Enhancers	Fetal Stomach	stomach
48	chr12:687400-689000	Enhancers	Right Ventricle	heart
49	chr12:687400-689200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:687400-689200	Enhancers	Brain Hippocampus Middle	brain

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