Variant report

Variant	esv3494752
Chromosome Location	chr12:522547-523687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:515684..517646-chr12:519999..522840,2	K562	blood:
2	chr12:510128..512811-chr12:522624..524245,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120647	chromatin interactions

Extended variants
information (count: 70 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556557868	chr12:522626-522627	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571543260	chr12:522627-522628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538864227	chr12:522631-522632	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553922197	chr12:522640-522641	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555565279	chr12:522651-522652	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542319401	chr12:522665-522666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150416126	chr12:522692-522693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12301816	chr12:522700-522701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs7953831	chr12:522701-522702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559437958	chr12:522778-522779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573170612	chr12:522793-522794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185008203	chr12:522823-522824	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190999489	chr12:522825-522826	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs57468864	chr12:522832-522833	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541229169	chr12:522833-522834	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138303746	chr12:522847-522848	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527825323	chr12:522853-522854	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187240677	chr12:522854-522855	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567679950	chr12:522855-522856	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531593540	chr12:522865-522866	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550115562	chr12:522898-522899	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111789589	chr12:522919-522920	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538900728	chr12:522941-522942	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574534460	chr12:522942-522943	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565927964	chr12:522955-522956	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536396584	chr12:522956-522957	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs7136116	chr12:522975-522976	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs368600193	chr12:522993-522994	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576051755	chr12:523008-523009	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536668410	chr12:523033-523034	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558539898	chr12:523035-523036	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191613454	chr12:523080-523081	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs112651641	chr12:523082-523083	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559633775	chr12:523083-523084	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550675533	chr12:523127-523128	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574524948	chr12:523132-523133	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs11062840	chr12:523134-523135	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149319782	chr12:523138-523139	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183671758	chr12:523139-523140	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549768063	chr12:523146-523147	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564896912	chr12:523147-523148	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7303333	chr12:523151-523152	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561901453	chr12:523152-523153	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144569120	chr12:523157-523158	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs369477879	chr12:523158-523159	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148454315	chr12:523170-523171	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548733673	chr12:523175-523176	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs569653011	chr12:523181-523182	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537107195	chr12:523204-523205	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558626087	chr12:523231-523232	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pleomorphic liposarcoma	18784837	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:511600-523600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:511600-544600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:511800-522600	Weak transcription	Colonic Mucosa	Colon
4	chr12:511800-523600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:511800-523800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:511800-523800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:511800-524000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:512000-523600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:512000-523600	Weak transcription	Fetal Kidney	kidney
10	chr12:512000-545800	Weak transcription	HMEC	breast
11	chr12:512000-549600	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:512200-540200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:512200-557800	Weak transcription	Fetal Heart	heart
14	chr12:512400-523200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:512400-523600	Weak transcription	Fetal Lung	lung
16	chr12:512600-528600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:512600-528800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:512600-552200	Weak transcription	Fetal Brain Male	brain
19	chr12:513600-529000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:513600-529800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:514200-528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:514200-528800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:514400-528800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:514800-528600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr12:516800-523800	Weak transcription	HSMM	muscle
26	chr12:517000-523400	Weak transcription	Hela-S3	cervix
27	chr12:517000-523400	Weak transcription	K562	blood
28	chr12:517600-523200	Weak transcription	Psoas Muscle	Psoas
29	chr12:518000-524600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:518400-528800	Strong transcription	Dnd41	blood
31	chr12:518600-526600	Strong transcription	Fetal Intestine Small	intestine
32	chr12:518600-528400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:518800-529800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:519400-524400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:519400-528600	Strong transcription	Fetal Stomach	stomach
36	chr12:519400-529800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:519600-524200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:519600-524400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:519600-524400	Strong transcription	Fetal Muscle Leg	muscle
40	chr12:519600-524400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:519600-524600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:519600-528600	Strong transcription	Thymus	Thymus
43	chr12:519800-523600	Strong transcription	Fetal Brain Female	brain
44	chr12:519800-524400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:519800-528600	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr12:519800-528600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:519800-528600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:519800-528800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr12:519800-528800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:520000-527800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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