Variant report

Variant	nsv556877
Chromosome Location	chr12:607226-622926
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:1)
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	chr12:562294..562804-chr12:608079..608940,2	MCF-7	breast:
2	chr12:602358..605293-chr12:611922..614455,2	MCF-7	breast:
3	chr12:610332..613763-chr12:616552..619652,4	MCF-7	breast:
4	chr12:618073..620518-chr12:625351..628084,2	MCF-7	breast:
5	chr12:611154..613945-chr12:632166..635023,2	MCF-7	breast:
6	chr12:618074..619807-chr12:641547..643283,2	MCF-7	breast:
7	chr12:609770..612442-chr12:616470..618259,2	MCF-7	breast:
8	chr12:622277..623146-chr12:632963..633980,6	MCF-7	breast:
9	chr12:622362..623146-chr12:632963..633907,2	MCF-7	breast:
10	chr12:610332..613763-chr12:616552..619652,4	MCF-7	breast:
11	chr12:622355..623083-chr12:633209..633927,4	MCF-7	breast:
12	chr12:609770..612442-chr12:616470..618259,2	MCF-7	breast:
13	chr12:592627..596074-chr12:611199..615537,4	K562	blood:
14	chr12:617937..620233-chr12:642508..644938,2	MCF-7	breast:
15	chr12:595976..598882-chr12:613425..615039,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC77-2	chr12:622408-623144	ucscGeneNc_uc009zdl_1

No data

Extended variants
information (count: 760 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12313707	chr12:607226-607227	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs11063281	chr12:607246-607247	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574278654	chr12:607258-607259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192385688	chr12:607265-607266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73590377	chr12:607266-607267	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375333837	chr12:607271-607272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367865337	chr12:607328-607329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372427085	chr12:607336-607337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12304100	chr12:607365-607366	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11063284	chr12:607383-607384	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183706535	chr12:607392-607393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570240973	chr12:607406-607407	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs548859778	chr12:607432-607433	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs560795436	chr12:607474-607475	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs531409840	chr12:607477-607478	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs531097519	chr12:607479-607480	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs11063286	chr12:607480-607481	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs569269382	chr12:607481-607482	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs112567293	chr12:607502-607503	Enhancers Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs551517296	chr12:607605-607606	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs566861175	chr12:607606-607607	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs534544456	chr12:607616-607617	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs556096102	chr12:607620-607621	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs567918609	chr12:607658-607659	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs535020644	chr12:607672-607673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs79424196	chr12:607681-607682	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs397972990	chr12:607683-607684	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs7973229	chr12:607774-607775	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs111783676	chr12:607810-607811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs12305724	chr12:607842-607843	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556688737	chr12:607851-607852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112291654	chr12:607867-607868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545074487	chr12:607925-607926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs553395018	chr12:607930-607931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs140493831	chr12:607962-607963	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs556768013	chr12:607985-607986	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs78004686	chr12:608032-608033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56817357	chr12:608044-608045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542381569	chr12:608053-608054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373354891	chr12:608068-608069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376688273	chr12:608097-608098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543276163	chr12:608135-608136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs150415341	chr12:608191-608192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147655648	chr12:608200-608201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551901107	chr12:608221-608222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566921676	chr12:608243-608244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142288573	chr12:608245-608246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549360884	chr12:608269-608270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73590378	chr12:608299-608300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538510725	chr12:608329-608330	Weak transcription Enhancers	n/a	n/a	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:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:583400-611000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:593800-608200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:602400-609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:602600-611000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:604000-611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:604600-611000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:604800-607400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:604800-610600	Weak transcription	Gastric	stomach
9	chr12:606000-607800	Enhancers	Stomach Mucosa	stomach
10	chr12:606400-608400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:606600-607600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:606800-607600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:606800-607600	Enhancers	Left Ventricle	heart
14	chr12:606800-610800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:607000-610800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:607000-615600	Enhancers	Fetal Heart	heart
17	chr12:607200-607400	Enhancers	Colonic Mucosa	Colon
18	chr12:607200-607600	Enhancers	Right Atrium	heart
19	chr12:607200-608200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:607200-612600	Weak transcription	HepG2	liver
21	chr12:607400-607600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:607400-607600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr12:607400-607800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:607400-611000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:607400-611200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr12:607600-607800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:607600-608600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:607600-609800	Weak transcription	Left Ventricle	heart
29	chr12:607600-611000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:607600-611000	Weak transcription	Right Atrium	heart
31	chr12:607600-612200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:607800-608000	Flanking Active TSS	Stomach Mucosa	stomach
33	chr12:607800-612200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:608000-614400	Enhancers	Stomach Mucosa	stomach
35	chr12:608200-608400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr12:608200-609600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:608400-608600	Enhancers	Colonic Mucosa	Colon
38	chr12:608400-608800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:608400-611000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:608600-609000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:608600-609600	Weak transcription	Colonic Mucosa	Colon
42	chr12:608800-609800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr12:609000-609800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:609000-610000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr12:609400-609600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:609400-609600	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:609600-609800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:609600-609800	Enhancers	Lung	lung
49	chr12:609600-609800	Enhancers	Right Ventricle	heart
50	chr12:609600-610000	Enhancers	Colonic Mucosa	Colon

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