Variant report

Variant	nsv556876
Chromosome Location	chr12:584354-617981
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:595976..598882-chr12:613425..615039,3	MCF-7	breast:
2	chr12:593081..594822-chr12:595662..597681,2	MCF-7	breast:
3	chr12:592281..595019-chr12:599966..602441,2	MCF-7	breast:
4	chr12:609770..612442-chr12:616470..618259,2	MCF-7	breast:
5	chr12:610332..613763-chr12:616552..619652,4	MCF-7	breast:
6	chr12:593081..594822-chr12:595662..597681,2	MCF-7	breast:
7	chr12:610332..613763-chr12:616552..619652,4	MCF-7	breast:
8	chr12:617937..620233-chr12:642508..644938,2	MCF-7	breast:
9	chr12:568218..570488-chr12:587646..590152,3	K562	blood:
10	chr12:595976..598882-chr12:613425..615039,3	MCF-7	breast:
11	chr12:592281..595019-chr12:599966..602441,2	MCF-7	breast:
12	chr12:592627..596074-chr12:611199..615537,4	K562	blood:
13	chr12:593305..594856-chr12:602067..604374,2	K562	blood:
14	chr12:602358..605293-chr12:611922..614455,2	MCF-7	breast:
15	chr12:593305..594856-chr12:602067..604374,2	K562	blood:
16	chr12:602358..605293-chr12:611922..614455,2	MCF-7	breast:
17	chr12:589171..589964-chr12:633097..633983,2	MCF-7	breast:
18	chr12:562294..562804-chr12:608079..608940,2	MCF-7	breast:
19	chr12:609770..612442-chr12:616470..618259,2	MCF-7	breast:
20	chr12:579325..581351-chr12:586759..589716,2	MCF-7	breast:
21	chr12:611154..613945-chr12:632166..635023,2	MCF-7	breast:
22	chr12:592627..596074-chr12:611199..615537,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139044	chromatin interactions

Extended variants
information (count: 1464 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10849065	chr12:584354-584355	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144676606	chr12:584362-584363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533336511	chr12:584363-584364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386759344	chr12:584421-584422	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10849066	chr12:584423-584424	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147880035	chr12:584452-584453	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576702325	chr12:584600-584601	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141512515	chr12:584626-584627	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10849067	chr12:584669-584670	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567817078	chr12:584675-584676	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531320098	chr12:584705-584706	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549828161	chr12:584709-584710	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571190840	chr12:584814-584815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143645445	chr12:584828-584829	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547425338	chr12:584832-584833	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565641172	chr12:584833-584834	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151019919	chr12:584843-584844	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554359866	chr12:584859-584860	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575806774	chr12:584860-584861	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79412606	chr12:584904-584905	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556604925	chr12:584910-584911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12319180	chr12:584955-584956	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140879093	chr12:584959-584960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61366447	chr12:585014-585015	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150153564	chr12:585030-585031	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138559969	chr12:585049-585050	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141649483	chr12:585084-585085	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574458738	chr12:585085-585086	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578110875	chr12:585087-585088	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564991829	chr12:585097-585098	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375358893	chr12:585105-585106	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536676549	chr12:585106-585107	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186095081	chr12:585195-585196	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115192348	chr12:585197-585198	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536164577	chr12:585206-585207	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11063153	chr12:585229-585230	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs61547343	chr12:585247-585248	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537241206	chr12:585257-585258	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556429179	chr12:585270-585271	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61916615	chr12:585272-585273	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs137895464	chr12:585285-585286	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577509426	chr12:585294-585295	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546049540	chr12:585295-585296	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370628343	chr12:585305-585306	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142387871	chr12:585318-585319	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140108802	chr12:585346-585347	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75619599	chr12:585352-585353	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77650218	chr12:585356-585357	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75631236	chr12:585357-585358	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386759345	chr12:585358-585359	Weak transcription Strong transcription Genic enhancers 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:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:571000-590200	Weak transcription	Esophagus	oesophagus
2	chr12:573200-584800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:578200-589600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:578800-590000	Weak transcription	Colonic Mucosa	Colon
5	chr12:578800-593200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:579600-588000	Weak transcription	Gastric	stomach
7	chr12:582400-584800	Enhancers	HSMMtube	muscle
8	chr12:582400-585200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:582400-585200	Enhancers	Left Ventricle	heart
10	chr12:582600-584600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:582800-584800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:583000-584600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:583000-585000	Weak transcription	Right Atrium	heart
14	chr12:583000-590000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:583200-588000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:583200-588000	Weak transcription	Right Ventricle	heart
17	chr12:583400-584400	Enhancers	Fetal Heart	heart
18	chr12:583400-584600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:583400-584600	Weak transcription	Aorta	Aorta
20	chr12:583400-586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:583400-611000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:583600-584400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:583600-584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:583600-585800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:583600-586200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:583600-587200	Weak transcription	NHEK	skin
27	chr12:583600-588200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:583600-589400	Weak transcription	HSMM	muscle
29	chr12:583600-590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:583600-591400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:583800-584400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr12:584000-584400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:584200-585200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr12:584200-587200	Enhancers	Stomach Mucosa	stomach
35	chr12:584400-584600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:584400-584600	Flanking Active TSS	Fetal Heart	heart
37	chr12:584400-584800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:584400-585200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:584400-585200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:584400-585400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:584600-584800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:584600-585000	Enhancers	Fetal Heart	heart
43	chr12:584600-585200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:584600-585200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:584600-585200	Enhancers	Aorta	Aorta
46	chr12:584800-585200	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr12:584800-589600	Weak transcription	HSMMtube	muscle
48	chr12:584800-590200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:585000-585400	Enhancers	Right Atrium	heart
50	chr12:585000-585600	Genic enhancers	Fetal Heart	heart

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