Variant report

Variant	nsv556935
Chromosome Location	chr12:867985-876288
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:858790..861699-chr12:870992..873821,2	K562	blood:
2	chr12:869508..871876-chr12:1056862..1059672,2	MCF-7	breast:
3	chr12:864121..866273-chr12:867871..870258,2	K562	blood:
4	chr12:749727..757562-chr12:858273..868886,17	MCF-7	breast:
5	chr12:824399..827215-chr12:865443..868265,2	K562	blood:
6	chr12:862748..867412-chr12:867871..873426,6	K562	blood:
7	chr12:867638..869974-chr12:870964..872822,2	K562	blood:
8	chr12:678017..679838-chr12:873854..876600,2	K562	blood:
9	chr12:867638..869974-chr12:870964..872822,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000002016	chromatin interactions
ENSG00000177406	chromatin interactions
ENSG00000171840	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562860296	chr12:867998-867999	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs150050456	chr12:868090-868091	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551758325	chr12:868093-868094	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145911490	chr12:868175-868176	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145351497	chr12:868233-868234	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs527827071	chr12:868242-868243	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181266125	chr12:868314-868315	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185179455	chr12:868316-868317	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs149190197	chr12:868322-868323	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528099289	chr12:868407-868408	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548901158	chr12:868410-868411	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7962606	chr12:868411-868412	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs538209205	chr12:868535-868536	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553739350	chr12:868551-868552	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs111863870	chr12:868566-868567	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536390213	chr12:868636-868637	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555516402	chr12:868644-868645	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs573863222	chr12:868654-868655	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143312117	chr12:868657-868658	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182113007	chr12:868671-868672	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187773207	chr12:868694-868695	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545065586	chr12:868697-868698	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs560581672	chr12:868702-868703	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs191823668	chr12:868704-868705	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs543179606	chr12:868709-868710	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561382797	chr12:868716-868717	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560827296	chr12:868720-868721	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs183823505	chr12:868738-868739	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571526722	chr12:868742-868743	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs532475169	chr12:868755-868756	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547072011	chr12:868794-868795	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139127338	chr12:868828-868829	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567926664	chr12:868846-868847	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs76153366	chr12:868853-868854	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs554216995	chr12:868880-868881	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs188374344	chr12:868904-868905	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538011113	chr12:868916-868917	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556383724	chr12:869005-869006	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs578185019	chr12:869022-869023	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545712338	chr12:869066-869067	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553865374	chr12:869220-869221	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528121062	chr12:869232-869233	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141578102	chr12:869243-869244	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs548688753	chr12:869268-869269	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192972142	chr12:869342-869343	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs561317796	chr12:869345-869346	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147042682	chr12:869383-869384	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184694225	chr12:869450-869451	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs138261728	chr12:869506-869507	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75693482	chr12:869509-869510	Weak transcription Strong transcription Enhancers Active TSS	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:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr12:864800-868000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:865200-871400	Weak transcription	Left Ventricle	heart
9	chr12:865200-871600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:865200-872200	Weak transcription	Esophagus	oesophagus
11	chr12:865200-872800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:865200-874400	Weak transcription	Ovary	ovary
13	chr12:865200-883200	Weak transcription	Placenta	Placenta
14	chr12:865200-884600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:865200-884600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:865200-884600	Weak transcription	Lung	lung
17	chr12:865200-895600	Weak transcription	Pancreas	Pancrea
18	chr12:865400-871200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:865400-873600	Weak transcription	Fetal Kidney	kidney
20	chr12:865800-868600	Weak transcription	Fetal Thymus	thymus
21	chr12:865800-869400	Enhancers	Fetal Brain Male	brain
22	chr12:865800-871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:866000-868600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:866000-871400	Weak transcription	Fetal Intestine Small	intestine
25	chr12:866000-872400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:866000-873200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:866000-883400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:866000-889200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:866200-868000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:866200-868200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:866200-871400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:866200-872000	Weak transcription	Fetal Stomach	stomach
33	chr12:866200-877000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:866200-883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:866200-885000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:866400-868200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:866400-868800	Weak transcription	Osteobl	bone
38	chr12:866400-869000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:866400-870200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr12:866400-870400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:866400-870400	Weak transcription	NH-A	brain
42	chr12:866400-870400	Weak transcription	NHDF-Ad	bronchial
43	chr12:866400-870600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:866400-870600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:866400-870600	Weak transcription	NHLF	lung
46	chr12:866400-871000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:866400-872000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:866400-872200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:866400-873600	Weak transcription	Thymus	Thymus
50	chr12:866400-874000	Weak transcription	NHEK	skin

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