Variant report

Variant	nsv558597
Chromosome Location	chr12:40414631-40442892
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	chr12:40425798..40426494-chr12:40501097..40501912,2	MCF-7	breast:
2	chr12:40433481..40436238-chr12:40442156..40444091,2	MCF-7	breast:
3	chr12:40434942..40437888-chr12:40438406..40442021,3	MCF-7	breast:
4	chr12:40434942..40437888-chr12:40438406..40442021,3	MCF-7	breast:
5	chr12:40433481..40436238-chr12:40442156..40444091,2	MCF-7	breast:
6	chr12:40442565..40445105-chr12:40454230..40455895,2	K562	blood:
7	chr12:40442497..40444511-chr12:40489618..40491623,2	K562	blood:
8	chr12:40425499..40426450-chr12:40706505..40707111,2	MCF-7	breast:
9	chr12:40424834..40427522-chr12:40498279..40501048,3	MCF-7	breast:
10	chr12:40413403..40416172-chr12:40500145..40501731,2	K562	blood:
11	chr12:40427544..40429854-chr12:40484526..40486904,2	MCF-7	breast:
12	chr12:40428243..40430877-chr12:40432067..40435027,3	K562	blood:
13	chr12:40419862..40422582-chr12:40493466..40495715,2	K562	blood:
14	chr12:40428243..40430877-chr12:40432067..40435027,3	K562	blood:
15	12:40436818-40441273..12:40703633-40711447	GM12878	blood:
16	12:40441273-40454218..12:40703633-40711447	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000151229	chromatin interactions
ENSG00000188906	chromatin interactions

Extended variants
information (count: 923 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:923 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7969495	chr12:40414631-40414632	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572873652	chr12:40414633-40414634	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187392345	chr12:40414640-40414641	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575652850	chr12:40414722-40414723	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150503181	chr12:40414723-40414724	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397960161	chr12:40414734-40414735	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558322071	chr12:40414759-40414760	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549086269	chr12:40414790-40414791	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567132082	chr12:40414801-40414802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112181551	chr12:40414829-40414830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557974523	chr12:40414916-40414917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200822447	chr12:40414921-40414922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192578571	chr12:40414925-40414926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576589482	chr12:40414929-40414930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544105450	chr12:40414934-40414935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184817448	chr12:40414977-40414978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576217848	chr12:40415008-40415009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537379005	chr12:40415026-40415027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28370668	chr12:40415062-40415063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28370669	chr12:40415066-40415067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28370670	chr12:40415067-40415068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs28370671	chr12:40415068-40415069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28370672	chr12:40415069-40415070	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs28370673	chr12:40415071-40415072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs367557792	chr12:40415084-40415085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574758795	chr12:40415091-40415092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542193099	chr12:40415103-40415104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560413465	chr12:40415186-40415187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371517339	chr12:40415223-40415224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371869315	chr12:40415249-40415250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188411955	chr12:40415259-40415260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552660348	chr12:40415362-40415363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564670742	chr12:40415367-40415368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531911168	chr12:40415419-40415420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144412020	chr12:40415424-40415425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568720491	chr12:40415469-40415470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192274121	chr12:40415495-40415496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148398311	chr12:40415573-40415574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560917145	chr12:40415594-40415595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533652370	chr12:40415601-40415602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558185044	chr12:40415623-40415624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377021476	chr12:40415660-40415661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537617494	chr12:40415703-40415704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556221353	chr12:40415709-40415710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185067921	chr12:40415737-40415738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370118514	chr12:40415756-40415757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541907929	chr12:40415797-40415798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560544713	chr12:40415813-40415814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531221375	chr12:40415825-40415826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374094311	chr12:40415827-40415828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40394400-40448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:40402200-40425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:40405400-40445200	Weak transcription	K562	blood
4	chr12:40405600-40417000	Weak transcription	Lung	lung
5	chr12:40405800-40421000	Weak transcription	Left Ventricle	heart
6	chr12:40405800-40425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:40405800-40426000	Weak transcription	Pancreas	Pancrea
8	chr12:40406000-40423200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:40406600-40423200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:40406600-40425800	Weak transcription	Liver	Liver
11	chr12:40407800-40426000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:40409600-40426000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:40410000-40417200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:40410000-40422200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:40411000-40417000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:40411000-40418800	Weak transcription	Aorta	Aorta
17	chr12:40411400-40416800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:40411400-40428200	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:40411400-40428600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:40411600-40416800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:40411600-40418800	Weak transcription	Right Atrium	heart
22	chr12:40411600-40422000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:40411600-40424000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:40411600-40425600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:40411600-40426200	Weak transcription	Esophagus	oesophagus
26	chr12:40411800-40425200	Weak transcription	Fetal Intestine Small	intestine
27	chr12:40411800-40425600	Weak transcription	Fetal Intestine Large	intestine
28	chr12:40411800-40425600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:40411800-40426400	Weak transcription	Right Ventricle	heart
30	chr12:40412400-40417200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr12:40412400-40417400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:40412600-40417000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr12:40412800-40415800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:40412800-40417200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:40413000-40415200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:40413000-40416000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:40413600-40417000	Weak transcription	Brain Germinal Matrix	brain
38	chr12:40414200-40417000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:40414400-40414800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:40414400-40415200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr12:40414600-40414800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr12:40414800-40415000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr12:40414800-40416200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:40415000-40426000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:40415800-40416800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:40416000-40416800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:40416200-40425400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:40416400-40416600	Enhancers	Ovary	ovary
49	chr12:40416600-40425400	Weak transcription	Psoas Muscle	Psoas
50	chr12:40416600-40441800	Weak transcription	Ovary	ovary

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