Variant report

Variant	nsv437722
Chromosome Location	chr12:4391332-4396746
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:4393097..4393597-chr5:75728895..75729427,2	NB4	blood:
2	chr12:4395917..4398503-chr12:4411541..4413819,2	K562	blood:
3	chr12:4007431..4009689-chr12:4393873..4396492,2	K562	blood:
4	chr12:4390281..4392971-chr12:4411655..4413761,2	K562	blood:
5	chr12:4393589..4397417-chr12:4408802..4414196,5	K562	blood:
6	chr12:3967810..3970791-chr12:4389057..4391827,2	MCF-7	breast:
7	chr12:4104021..4107125-chr12:4390734..4394763,3	K562	blood:
8	chr12:4394961..4395702-chr8:23386231..23387098,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000147454	chromatin interactions
ENSG00000256862	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3217824	chr12:4391332-4391333	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554721106	chr12:4391333-4391334	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568048546	chr12:4391367-4391368	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73247753	chr12:4391383-4391384	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139506655	chr12:4391391-4391392	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577504801	chr12:4391394-4391395	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374815059	chr12:4391425-4391426	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190659674	chr12:4391496-4391497	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12814987	chr12:4391515-4391516	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553204740	chr12:4391573-4391574	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572920487	chr12:4391583-4391584	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3217825	chr12:4391614-4391615	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3217826	chr12:4391617-4391618	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561879138	chr12:4391623-4391624	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185402365	chr12:4391724-4391725	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367835528	chr12:4391762-4391763	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563348943	chr12:4391785-4391786	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76776083	chr12:4391788-4391789	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143391429	chr12:4391789-4391790	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146716641	chr12:4391835-4391836	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190265003	chr12:4391840-4391841	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528127621	chr12:4391849-4391850	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569519082	chr12:4391911-4391912	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560683643	chr12:4391912-4391913	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568196107	chr12:4391984-4391985	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528540154	chr12:4392004-4392005	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140405050	chr12:4392026-4392027	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556975830	chr12:4392109-4392110	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182871904	chr12:4392127-4392128	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145605932	chr12:4392141-4392142	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187208125	chr12:4392142-4392143	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573182259	chr12:4392152-4392153	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546118932	chr12:4392155-4392156	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146516727	chr12:4392165-4392166	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555470076	chr12:4392203-4392204	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575556584	chr12:4392209-4392210	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544386101	chr12:4392221-4392222	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558115901	chr12:4392248-4392249	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576979922	chr12:4392277-4392278	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528153115	chr12:4392353-4392354	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4561281	chr12:4392357-4392358	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559713156	chr12:4392373-4392374	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3217827	chr12:4392391-4392392	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs3217828	chr12:4392424-4392425	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375404963	chr12:4392454-4392455	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3217829	chr12:4392462-4392463	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75400685	chr12:4392498-4392499	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561045703	chr12:4392499-4392500	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3217830	chr12:4392530-4392531	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs570490938	chr12:4392583-4392584	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4385400-4400000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
2	chr12:4385400-4404400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
3	chr12:4385600-4391400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:4385600-4400600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:4385800-4398400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:4386000-4393600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:4386000-4400000	Genic enhancers	Fetal Stomach	stomach
8	chr12:4386000-4404600	Genic enhancers	Primary T cells fromperipheralblood	blood
9	chr12:4386200-4393200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:4386200-4403000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:4386200-4404200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:4386200-4404800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:4386400-4393800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:4386600-4393200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:4386600-4393200	Weak transcription	Thymus	Thymus
16	chr12:4386600-4395000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr12:4386600-4400000	Genic enhancers	Fetal Muscle Leg	muscle
18	chr12:4386600-4406800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:4386800-4391800	Genic enhancers	Primary T cells from cord blood	blood
20	chr12:4386800-4396200	Strong transcription	Esophagus	oesophagus
21	chr12:4387000-4395000	Strong transcription	Primary B cells from cord blood	blood
22	chr12:4387000-4402600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:4387200-4400000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:4387200-4415200	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr12:4387600-4394200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:4387800-4392200	Strong transcription	Aorta	Aorta
27	chr12:4387800-4402400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:4387800-4415200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:4388000-4393800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:4388200-4393200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:4388200-4393800	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr12:4388200-4394200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:4388200-4396800	Strong transcription	Fetal Thymus	thymus
34	chr12:4388200-4401000	Genic enhancers	Left Ventricle	heart
35	chr12:4388200-4411200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:4388200-4415200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr12:4388200-4415200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:4388400-4392000	Genic enhancers	Placenta	Placenta
39	chr12:4388800-4394400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr12:4388800-4394800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:4389000-4393800	Genic enhancers	Adipose Nuclei	Adipose
42	chr12:4389200-4391400	Enhancers	Brain Angular Gyrus	brain
43	chr12:4389200-4400800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:4389400-4391600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:4389400-4392200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:4389400-4394200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:4389400-4396400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:4389600-4391600	Weak transcription	Fetal Kidney	kidney
49	chr12:4389600-4392000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:4389600-4394800	Strong transcription	HMEC	breast

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