Variant report

Variant	nsv1041674
Chromosome Location	chr12:83162082-83207782
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
2	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
3	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
4	chr12:83149723..83152212-chr12:83167569..83170218,2	MCF-7	breast:
5	chr12:83193010..83196119-chr12:83198103..83200087,3	MCF-7	breast:
6	chr12:83079969..83082469-chr12:83197012..83198643,2	MCF-7	breast:
7	chr12:83163920..83166046-chr12:83167573..83169394,2	MCF-7	breast:
8	chr12:83080290..83082934-chr12:83176093..83178642,2	MCF-7	breast:
9	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
10	chr12:83163920..83166046-chr12:83167573..83169394,2	MCF-7	breast:
11	chr12:83161002..83162566-chr12:83300658..83302592,2	MCF-7	breast:
12	chr12:83193010..83196119-chr12:83198103..83200087,3	MCF-7	breast:
13	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
14	chr12:83079314..83080074-chr12:83165496..83166214,2	MCF-7	breast:
15	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
16	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
17	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 1748 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1748 , 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	rs7295371	chr12:83162082-83162083	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80124526	chr12:83162100-83162101	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112201847	chr12:83162119-83162120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201051517	chr12:83162192-83162193	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77231393	chr12:83162248-83162249	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187318424	chr12:83162277-83162278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566365725	chr12:83162328-83162329	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116918948	chr12:83162329-83162330	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192696394	chr12:83162387-83162388	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200275798	chr12:83162447-83162448	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151310823	chr12:83162499-83162500	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77738539	chr12:83162544-83162545	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561873260	chr12:83162545-83162546	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140708741	chr12:83162553-83162554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548803398	chr12:83162557-83162558	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373147329	chr12:83162559-83162560	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145911868	chr12:83162620-83162621	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116972840	chr12:83162685-83162686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558470694	chr12:83162691-83162692	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374918513	chr12:83162697-83162698	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79052549	chr12:83162714-83162715	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570739586	chr12:83162783-83162784	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183774863	chr12:83162801-83162802	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35713267	chr12:83162802-83162803	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553752819	chr12:83162804-83162805	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188309908	chr12:83162812-83162813	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7133916	chr12:83162845-83162846	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs193043418	chr12:83162847-83162848	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575882940	chr12:83162903-83162904	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543133480	chr12:83162981-83162982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559641900	chr12:83162990-83162991	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531980130	chr12:83162994-83162995	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11115389	chr12:83163023-83163024	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185645463	chr12:83163033-83163034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530427122	chr12:83163059-83163060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548945809	chr12:83163070-83163071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11115390	chr12:83163078-83163079	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531167898	chr12:83163115-83163116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11115391	chr12:83163149-83163150	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11115392	chr12:83163179-83163180	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189145651	chr12:83163180-83163181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191318715	chr12:83163190-83163191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28736640	chr12:83163203-83163204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11115393	chr12:83163228-83163229	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568154776	chr12:83163231-83163232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536140211	chr12:83163250-83163251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11115394	chr12:83163265-83163266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11115395	chr12:83163272-83163273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111792151	chr12:83163285-83163286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398076796	chr12:83163287-83163288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83150600-83174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83151600-83168600	Weak transcription	Gastric	stomach
3	chr12:83151600-83173200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:83153200-83168400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:83153200-83198600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:83154200-83164600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:83154400-83162200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:83155200-83177200	Weak transcription	Fetal Kidney	kidney
9	chr12:83155400-83169800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:83157200-83196000	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:83158400-83168400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:83160000-83162600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:83160200-83165600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:83160400-83162400	Weak transcription	Fetal Heart	heart
15	chr12:83161200-83163000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:83161200-83163000	Enhancers	Brain Germinal Matrix	brain
17	chr12:83161200-83163000	Strong transcription	Fetal Stomach	stomach
18	chr12:83161400-83162600	Enhancers	Brain Substantia Nigra	brain
19	chr12:83161400-83162800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:83161400-83163000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:83161600-83165600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:83161800-83162800	Enhancers	Brain Anterior Caudate	brain
23	chr12:83161800-83163000	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:83162000-83162200	Strong transcription	Fetal Lung	lung
25	chr12:83162000-83162600	Enhancers	Brain Hippocampus Middle	brain
26	chr12:83162000-83162800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:83162000-83162800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr12:83162000-83162800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:83162200-83162800	Enhancers	Colon Smooth Muscle	Colon
30	chr12:83162200-83173800	Weak transcription	Fetal Lung	lung
31	chr12:83162600-83162800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr12:83162600-83169600	Weak transcription	Brain Substantia Nigra	brain
33	chr12:83162800-83168400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:83162800-83168400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr12:83162800-83169800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:83162800-83174600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:83163000-83168000	Weak transcription	Fetal Stomach	stomach
38	chr12:83163000-83168400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:83163000-83170000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:83163000-83172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:83164400-83176200	Weak transcription	Fetal Heart	heart
42	chr12:83164600-83165600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:83165000-83166200	Enhancers	Stomach Mucosa	stomach
44	chr12:83165600-83166000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:83165600-83166400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:83165600-83166800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:83166000-83170200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:83166200-83166600	Weak transcription	Stomach Mucosa	stomach
49	chr12:83166400-83168600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:83166600-83167200	Enhancers	Stomach Mucosa	stomach

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