Variant report

Variant	esv2760258
Chromosome Location	chr12:869109-885194
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:860489..863381-chr12:877011..880566,3	MCF-7	breast:
2	chr12:881327..884915-chr12:893641..898608,4	K562	blood:
3	chr12:876294..878971-chr12:885168..888118,2	K562	blood:
4	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
5	chr12:858790..861699-chr12:870992..873821,2	K562	blood:
6	chr12:864103..866169-chr12:883528..885181,2	K562	blood:
7	chr12:869508..871876-chr12:1056862..1059672,2	MCF-7	breast:
8	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
9	chr12:876367..879119-chr12:880594..883556,3	K562	blood:
10	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
11	chr12:881327..883755-chr12:895131..898641,3	K562	blood:
12	chr12:876367..879119-chr12:880594..883556,3	K562	blood:
13	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
14	chr12:876294..878971-chr12:885168..888118,2	K562	blood:
15	chr12:678017..679838-chr12:873854..876600,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000002016	chromatin interactions
ENSG00000060237	chromatin interactions

Extended variants
information (count: 580 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553865374	chr12:869220-869221	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528121062	chr12:869232-869233	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141578102	chr12:869243-869244	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548688753	chr12:869268-869269	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs192972142	chr12:869342-869343	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561317796	chr12:869345-869346	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147042682	chr12:869383-869384	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184694225	chr12:869450-869451	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138261728	chr12:869506-869507	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs75693482	chr12:869509-869510	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187032848	chr12:869556-869557	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191505785	chr12:869560-869561	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565858488	chr12:869590-869591	Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529647177	chr12:869612-869613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547792580	chr12:869621-869622	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150576949	chr12:869674-869675	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536801185	chr12:869684-869685	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12813951	chr12:869741-869742	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556319955	chr12:869759-869760	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546565366	chr12:869777-869778	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34124369	chr12:869787-869788	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201087981	chr12:869926-869927	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs183597097	chr12:869927-869928	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138616178	chr12:869975-869976	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572651437	chr12:869993-869994	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149293343	chr12:870013-870014	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555040479	chr12:870024-870025	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537746024	chr12:870026-870027	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372933642	chr12:870102-870103	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568554327	chr12:870107-870108	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11284313	chr12:870122-870123	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113716780	chr12:870147-870148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201359078	chr12:870237-870238	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564914703	chr12:870240-870241	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576933256	chr12:870292-870293	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566628760	chr12:870346-870347	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372155936	chr12:870349-870350	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78046791	chr12:870450-870451	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567385186	chr12:870470-870471	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559559396	chr12:870568-870569	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs61916729	chr12:870611-870612	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs79147907	chr12:870612-870613	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs144023587	chr12:870631-870632	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374167085	chr12:870693-870694	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530509286	chr12:870703-870704	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs145941616	chr12:870725-870726	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189492999	chr12:870734-870735	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs553219771	chr12:870756-870757	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539174095	chr12:870825-870826	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182059557	chr12:870886-870887	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:714 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:863800-876600	Weak transcription	Spleen	Spleen
2	chr12:864400-872000	Weak transcription	Gastric	stomach
3	chr12:864400-883200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:864600-872200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:864600-875400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:864600-884600	Weak transcription	Aorta	Aorta
7	chr12:865200-871400	Weak transcription	Left Ventricle	heart
8	chr12:865200-871600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:865200-872200	Weak transcription	Esophagus	oesophagus
10	chr12:865200-872800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:865200-874400	Weak transcription	Ovary	ovary
12	chr12:865200-883200	Weak transcription	Placenta	Placenta
13	chr12:865200-884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:865200-884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:865200-884600	Weak transcription	Lung	lung
16	chr12:865200-895600	Weak transcription	Pancreas	Pancrea
17	chr12:865400-871200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:865400-873600	Weak transcription	Fetal Kidney	kidney
19	chr12:865800-869400	Enhancers	Fetal Brain Male	brain
20	chr12:865800-871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:866000-871400	Weak transcription	Fetal Intestine Small	intestine
22	chr12:866000-872400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr12:866000-873200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:866000-883400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:866000-889200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:866200-871400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:866200-872000	Weak transcription	Fetal Stomach	stomach
28	chr12:866200-877000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:866200-883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:866200-885000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:866400-870200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr12:866400-870400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:866400-870400	Weak transcription	NH-A	brain
34	chr12:866400-870400	Weak transcription	NHDF-Ad	bronchial
35	chr12:866400-870600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:866400-870600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:866400-870600	Weak transcription	NHLF	lung
38	chr12:866400-871000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr12:866400-872000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:866400-872200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:866400-873600	Weak transcription	Thymus	Thymus
42	chr12:866400-874000	Weak transcription	NHEK	skin
43	chr12:866400-874600	Weak transcription	Colon Smooth Muscle	Colon
44	chr12:866400-874800	Weak transcription	Liver	Liver
45	chr12:866400-877000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:866400-878800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:866400-880000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:866400-881400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr12:866400-881600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr12:866400-883000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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