Variant report

Variant	nsv975532
Chromosome Location	chr12:120149393-120150264
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	FOXA1	chr12:120149206-120149465	T-47D	breast:	n/a	n/a
2	FOXA1	chr12:120149252-120149551	T-47D	breast:	n/a	n/a
3	POLR2A	chr12:120149541-120149634	K562	blood:	n/a	n/a
4	POLR2A	chr12:120149400-120149452	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120147560..120151700-chr12:120152140..120156829,4	MCF-7	breast:

Variant related genes	Relation type
CIT	TF binding region
ENSG00000122966	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139419801	chr12:120149448-120149449	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149607947	chr12:120149468-120149469	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111968145	chr12:120149473-120149474	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs146132343	chr12:120149483-120149484	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547180348	chr12:120149487-120149488	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566698738	chr12:120149528-120149529	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs4269	chr12:120149558-120149559	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs370304033	chr12:120149562-120149563	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs115009705	chr12:120149563-120149564	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537845076	chr12:120149566-120149567	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs558170014	chr12:120149583-120149584	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147332625	chr12:120149618-120149619	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369845335	chr12:120149620-120149621	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571558619	chr12:120149727-120149728	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182337837	chr12:120149731-120149732	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs76417198	chr12:120149742-120149743	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368012178	chr12:120149751-120149752	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573845383	chr12:120149793-120149794	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34232311	chr12:120149800-120149801	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542878152	chr12:120149817-120149818	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs556493884	chr12:120149843-120149844	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs78364534	chr12:120149849-120149850	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544983141	chr12:120149860-120149861	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs77464084	chr12:120149901-120149902	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527308779	chr12:120149910-120149911	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs143743102	chr12:120149915-120149916	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113303356	chr12:120149946-120149947	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs55787506	chr12:120149990-120149991	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146815718	chr12:120150025-120150026	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs34392404	chr12:120150036-120150037	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111793099	chr12:120150052-120150053	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs187589584	chr12:120150073-120150074	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529422865	chr12:120150077-120150078	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199525281	chr12:120150092-120150093	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541568132	chr12:120150142-120150143	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs564447434	chr12:120150146-120150147	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548588963	chr12:120150151-120150152	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs376651355	chr12:120150178-120150179	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs804667	chr12:120150196-120150197	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs193282891	chr12:120150197-120150198	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs147851307	chr12:120150205-120150206	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570044061	chr12:120150217-120150218	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531993528	chr12:120150234-120150235	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374403456	chr12:120150248-120150249	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120108200-120161000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120116800-120201800	Weak transcription	Fetal Heart	heart
3	chr12:120119800-120149800	Weak transcription	Placenta	Placenta
4	chr12:120121000-120151800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:120121200-120173400	Weak transcription	Primary B cells from cord blood	blood
6	chr12:120122200-120160800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:120123400-120182000	Strong transcription	Dnd41	blood
8	chr12:120126000-120154000	Weak transcription	Right Ventricle	heart
9	chr12:120126400-120150000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:120126600-120158000	Weak transcription	Colonic Mucosa	Colon
11	chr12:120130800-120182200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:120131200-120154200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:120131200-120161600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:120131600-120154400	Weak transcription	Small Intestine	intestine
15	chr12:120132200-120151200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:120132200-120152400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:120132400-120151400	Weak transcription	Pancreas	Pancrea
18	chr12:120132400-120153400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:120132800-120162000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:120134800-120154400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:120136000-120151200	Weak transcription	Gastric	stomach
22	chr12:120136000-120156000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:120137000-120159800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:120139600-120159600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:120140200-120149400	Weak transcription	Lung	lung
26	chr12:120141000-120159600	Strong transcription	Fetal Thymus	thymus
27	chr12:120142600-120149600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:120142600-120149600	Weak transcription	Fetal Intestine Small	intestine
29	chr12:120142600-120151200	Weak transcription	HSMM	muscle
30	chr12:120142600-120154200	Weak transcription	HSMMtube	muscle
31	chr12:120142600-120154400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:120142800-120149800	Weak transcription	Fetal Brain Female	brain
33	chr12:120143600-120160200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:120143800-120153600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:120143800-120159800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:120143800-120160800	Strong transcription	Thymus	Thymus
37	chr12:120143800-120211200	Weak transcription	Fetal Brain Male	brain
38	chr12:120144200-120160000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:120144400-120152400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:120144400-120160200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:120144600-120153200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:120144600-120159800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr12:120144800-120152400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:120144800-120153800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:120144800-120159400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr12:120145000-120154200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:120145000-120154200	Strong transcription	NHDF-Ad	bronchial
48	chr12:120145000-120158200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:120145000-120168600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr12:120145200-120151800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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