Variant report

Variant	nsv1041913
Chromosome Location	chr12:570947-609563
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:592281..595019-chr12:599966..602441,2	MCF-7	breast:
2	chr12:593081..594822-chr12:595662..597681,2	MCF-7	breast:
3	chr12:593305..594856-chr12:602067..604374,2	K562	blood:
4	chr12:602358..605293-chr12:611922..614455,2	MCF-7	breast:
5	chr12:593081..594822-chr12:595662..597681,2	MCF-7	breast:
6	chr12:562294..562804-chr12:608079..608940,2	MCF-7	breast:
7	chr12:592627..596074-chr12:611199..615537,4	K562	blood:
8	chr12:595976..598882-chr12:613425..615039,3	MCF-7	breast:
9	chr12:593305..594856-chr12:602067..604374,2	K562	blood:
10	chr12:579325..581351-chr12:586759..589716,2	MCF-7	breast:
11	chr12:568218..570488-chr12:587646..590152,3	K562	blood:
12	chr12:563912..565642-chr12:570833..573151,2	K562	blood:
13	chr12:567380..570258-chr12:571395..573761,2	MCF-7	breast:
14	chr12:579325..581351-chr12:586759..589716,2	MCF-7	breast:
15	chr12:592281..595019-chr12:599966..602441,2	MCF-7	breast:
16	chr12:589171..589964-chr12:633097..633983,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139044	chromatin interactions

Extended variants
information (count: 1705 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1705 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7955258	chr12:570947-570948	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557413093	chr12:571025-571026	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs71447489	chr12:571028-571029	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs370442038	chr12:571050-571051	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs114437462	chr12:571083-571084	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564342311	chr12:571098-571099	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186995421	chr12:571108-571109	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75261405	chr12:571120-571121	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74058019	chr12:571139-571140	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528910875	chr12:571166-571167	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550548177	chr12:571167-571168	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542462128	chr12:571184-571185	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562682841	chr12:571194-571195	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4980917	chr12:571202-571203	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528408736	chr12:571312-571313	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551657129	chr12:571342-571343	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs367750714	chr12:571345-571346	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs58362874	chr12:571404-571405	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs76732825	chr12:571455-571456	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533112168	chr12:571468-571469	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568535368	chr12:571569-571570	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535519666	chr12:571591-571592	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557331388	chr12:571603-571604	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571179948	chr12:571607-571608	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs77932389	chr12:571624-571625	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6489533	chr12:571633-571634	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs546077124	chr12:571680-571681	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191433787	chr12:571753-571754	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141094310	chr12:571773-571774	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535635937	chr12:571778-571779	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369791778	chr12:571787-571788	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561678577	chr12:571788-571789	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573672136	chr12:571789-571790	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543933167	chr12:571799-571800	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs184401706	chr12:571815-571816	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562473338	chr12:571865-571866	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532930990	chr12:571866-571867	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs7953530	chr12:571891-571892	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs367896112	chr12:571899-571900	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7959228	chr12:571932-571933	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7970752	chr12:571940-571941	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7962719	chr12:571943-571944	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs545341486	chr12:571959-571960	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78372847	chr12:571971-571972	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527526890	chr12:571974-571975	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549149555	chr12:572065-572066	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7970891	chr12:572072-572073	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7970904	chr12:572105-572106	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567306909	chr12:572204-572205	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145883039	chr12:572216-572217	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Pleomorphic liposarcoma	18784837	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:568400-571200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:568800-571400	Active TSS	Gastric	stomach
3	chr12:569000-571000	Active TSS	Left Ventricle	heart
4	chr12:569000-571000	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:569000-571000	Active TSS	NHEK	skin
6	chr12:569000-571400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:569000-571400	Active TSS	Colonic Mucosa	Colon
8	chr12:569800-571200	Bivalent Enhancer	Fetal Brain Male	brain
9	chr12:570000-571200	Active TSS	Stomach Mucosa	stomach
10	chr12:570200-571000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:570200-571200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr12:570200-571600	Active TSS	Fetal Heart	heart
13	chr12:570200-579400	Weak transcription	Lung	lung
14	chr12:570400-571000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
15	chr12:570400-571000	Bivalent Enhancer	HepG2	liver
16	chr12:570400-571200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr12:570400-571200	Active TSS	Right Ventricle	heart
18	chr12:570400-571400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:570400-572000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:570400-572000	Weak transcription	Pancreas	Pancrea
21	chr12:570400-572200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:570400-573800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:570600-571000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:570600-571000	Active TSS	Fetal Kidney	kidney
25	chr12:570600-571200	Weak transcription	Aorta	Aorta
26	chr12:570600-571200	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr12:570600-571200	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr12:570600-571200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:570600-572200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:570800-571000	Enhancers	Esophagus	oesophagus
31	chr12:570800-571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:570800-571200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr12:570800-571200	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:570800-571400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:570800-572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:570800-572400	Enhancers	Right Atrium	heart
37	chr12:570800-573800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:570800-574200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:571000-571200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr12:571000-571200	Enhancers	NHEK	skin
41	chr12:571000-571400	Flanking Active TSS	Left Ventricle	heart
42	chr12:571000-571600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:571000-574000	Weak transcription	Fetal Kidney	kidney
44	chr12:571000-590200	Weak transcription	Esophagus	oesophagus
45	chr12:571200-571400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:571200-571400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr12:571200-571400	Flanking Active TSS	Stomach Mucosa	stomach
48	chr12:571200-572000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr12:571200-572000	Weak transcription	NHEK	skin
50	chr12:571200-572200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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