Variant report

Variant	esv3348658
Chromosome Location	chr12:120683463-120683728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr12:120683683-120683735	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120683364..120686301-chr12:120702145..120704591,2	K562	blood:
2	chr12:120657004..120683911-chr12:120723753..120737731,232	K562	blood:
3	chr12:120656223..120689871-chr12:120720394..120738112,311	MCF-7	breast:
4	chr12:120642171..120684465-chr12:120719749..120734210,267	K562	blood:

Variant related genes	Relation type
RPS20P31	TF binding region
ENSG00000200795	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000089159	chromatin interactions
ENSG00000123009	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566259427	chr12:120683507-120683508	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs571506760	chr12:120683515-120683516	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs555027072	chr12:120683540-120683541	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs536977455	chr12:120683570-120683571	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs145965963	chr12:120683578-120683579	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs376899015	chr12:120683582-120683583	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs77508218	chr12:120683613-120683614	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs191985886	chr12:120683627-120683628	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs148623865	chr12:120683644-120683645	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs372305569	chr12:120683651-120683652	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs182722765	chr12:120683656-120683657	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs76916991	chr12:120683660-120683661	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs12164847	chr12:120683663-120683664	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120665200-120692000	Enhancers	Placenta	Placenta
2	chr12:120666200-120686000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr12:120669800-120687600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:120674200-120687600	Weak transcription	Fetal Kidney	kidney
5	chr12:120675800-120685000	Weak transcription	Stomach Mucosa	stomach
6	chr12:120675800-120686400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:120676400-120685000	Genic enhancers	NHEK	skin
8	chr12:120676400-120687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
10	chr12:120676800-120685800	Weak transcription	Small Intestine	intestine
11	chr12:120677000-120685200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:120678200-120685200	Weak transcription	Hela-S3	cervix
13	chr12:120678800-120687200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:120679600-120687200	Weak transcription	Brain Angular Gyrus	brain
15	chr12:120679800-120685800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:120679800-120686000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:120680000-120684200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:120680000-120685200	Enhancers	HUVEC	blood vessel
19	chr12:120680000-120685400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:120680000-120686000	Weak transcription	Colonic Mucosa	Colon
21	chr12:120680000-120687000	Weak transcription	Brain Anterior Caudate	brain
22	chr12:120680200-120687400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:120680400-120685800	Weak transcription	Fetal Intestine Large	intestine
24	chr12:120680400-120687400	Weak transcription	Fetal Thymus	thymus
25	chr12:120680800-120683800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:120681000-120686000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:120681000-120687200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:120681600-120685200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:120681600-120685600	Weak transcription	HepG2	liver
30	chr12:120681800-120685000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:120682000-120684800	Weak transcription	Liver	Liver
32	chr12:120682000-120685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:120682000-120685000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:120682000-120689000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:120682600-120683800	Enhancers	Adipose Nuclei	Adipose
36	chr12:120682600-120684000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:120682600-120684000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:120682600-120684000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:120682600-120684400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr12:120682600-120686400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:120682800-120683800	Genic enhancers	A549	lung
42	chr12:120682800-120684000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:120682800-120684000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr12:120682800-120684200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:120682800-120684400	Enhancers	Fetal Muscle Trunk	muscle
46	chr12:120682800-120685600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:120682800-120687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:120683000-120683800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:120683000-120687200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:120683200-120683800	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links