Variant report

Variant	nsv1040543
Chromosome Location	chr12:67345920-67395598
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:12)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
2	chr12:67352783..67353464-chr12:67479586..67480363,2	MCF-7	breast:
3	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
4	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
5	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:
6	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
7	chr12:67352323..67355212-chr12:67461055..67464112,3	MCF-7	breast:
8	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
9	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
10	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
11	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
12	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIP1-5	chr12:67364375-67366403	NONHSAT029235
2	lnc-CAND1-4	chr12:67350272-67350614	l_673_chr12:67349535-67350919_adrenal
3	lnc-CAND1-4	chr12:67349536-67349564	l_673_chr12:67349535-67350919_adrenal
4	lnc-CAND1-4	chr12:67350633-67350919	l_673_chr12:67349535-67350919_adrenal

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions

Extended variants
information (count: 1831 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1831 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570819147	chr12:67345932-67345933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555045048	chr12:67345957-67345958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71452330	chr12:67346007-67346008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7962477	chr12:67346013-67346014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs534408900	chr12:67346061-67346062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552787732	chr12:67346073-67346074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564656749	chr12:67346162-67346163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73333064	chr12:67346177-67346178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144566134	chr12:67346198-67346199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563565452	chr12:67346199-67346200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575433980	chr12:67346202-67346203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564993373	chr12:67346242-67346243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543036509	chr12:67346249-67346250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560211467	chr12:67346283-67346284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561126262	chr12:67346398-67346399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11176493	chr12:67346416-67346417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540919888	chr12:67346436-67346437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547077133	chr12:67346454-67346455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192680039	chr12:67346455-67346456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183193095	chr12:67346473-67346474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188626645	chr12:67346491-67346492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532723041	chr12:67346520-67346521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548929855	chr12:67346617-67346618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569566120	chr12:67346657-67346658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140793313	chr12:67346666-67346667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549010087	chr12:67346688-67346689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566913079	chr12:67346741-67346742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534420599	chr12:67346783-67346784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568033386	chr12:67346889-67346890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552601557	chr12:67346903-67346904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577433393	chr12:67346966-67346967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75738601	chr12:67347031-67347032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556857441	chr12:67347053-67347054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530911453	chr12:67347085-67347086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575542208	chr12:67347141-67347142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542550856	chr12:67347187-67347188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561279258	chr12:67347198-67347199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7309285	chr12:67347227-67347228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540754803	chr12:67347251-67347252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537780143	chr12:67347269-67347270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565342603	chr12:67347276-67347277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113826496	chr12:67347311-67347312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532481070	chr12:67347320-67347321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551179937	chr12:67347334-67347335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562937784	chr12:67347348-67347349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530465807	chr12:67347351-67347352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548557906	chr12:67347394-67347395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566925335	chr12:67347481-67347482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78705858	chr12:67347483-67347484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193160342	chr12:67347493-67347494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67339600-67347000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:67344600-67346000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:67344800-67346000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:67345200-67346000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:67345200-67346000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:67345200-67346000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:67345200-67346000	Enhancers	Psoas Muscle	Psoas
8	chr12:67345200-67346000	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:67345600-67347800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:67345800-67346000	Enhancers	Fetal Brain Male	brain
11	chr12:67345800-67346000	Enhancers	Fetal Kidney	kidney
12	chr12:67345800-67346200	Enhancers	Fetal Brain Female	brain
13	chr12:67346000-67346400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:67346000-67353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:67346000-67353800	Weak transcription	Fetal Kidney	kidney
16	chr12:67346400-67347400	Weak transcription	Fetal Brain Male	brain
17	chr12:67346600-67346800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:67347000-67347200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:67347400-67348000	Enhancers	Fetal Brain Male	brain
20	chr12:67347800-67348000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:67348000-67354200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:67350200-67350400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:67350400-67353000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:67353000-67355600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:67353200-67355600	Enhancers	NHEK	skin
26	chr12:67353800-67354200	Enhancers	Primary T cells from cord blood	blood
27	chr12:67353800-67354200	Enhancers	Fetal Kidney	kidney
28	chr12:67353800-67354800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:67353800-67355000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:67353800-67355600	Enhancers	HMEC	breast
31	chr12:67354000-67354200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:67354000-67354400	Enhancers	A549	lung
33	chr12:67354000-67354800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:67354000-67354800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:67354000-67355000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:67354000-67355200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:67354000-67355200	Enhancers	Esophagus	oesophagus
38	chr12:67354000-67355200	Enhancers	Placenta	Placenta
39	chr12:67354000-67355400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:67354000-67355600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:67354000-67356400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr12:67354200-67354600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:67354200-67355400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:67354200-67355800	Weak transcription	Primary T cells from cord blood	blood
45	chr12:67354400-67354800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:67354400-67355200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr12:67354400-67355400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:67354400-67356400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:67354600-67354800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:67354600-67355200	Enhancers	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links