Variant report

Variant	nsv1036984
Chromosome Location	chr12:67273098-67427543
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:66)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:67306214..67308962-chr12:67318247..67321230,2	MCF-7	breast:
2	chr12:67298346..67300741-chr12:67305071..67306583,2	MCF-7	breast:
3	chr12:67322533..67324494-chr12:67328156..67330477,2	K562	blood:
4	chr12:67296511..67299023-chr12:67323435..67324974,2	MCF-7	breast:
5	chr12:67352323..67355212-chr12:67461055..67464112,3	MCF-7	breast:
6	chr12:67289452..67290999-chr12:67296445..67299201,2	MCF-7	breast:
7	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
8	chr12:67296662..67299325-chr12:67460578..67464881,5	MCF-7	breast:
9	chr12:67297865..67298411-chr12:67461007..67461777,2	MCF-7	breast:
10	chr12:67408467..67411253-chr12:67422516..67424188,2	K562	blood:
11	chr12:67296029..67298947-chr12:67402634..67404774,2	K562	blood:
12	chr12:67416068..67418354-chr12:67426398..67428133,2	MCF-7	breast:
13	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
14	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
15	chr12:67352783..67353464-chr12:67479586..67480363,2	MCF-7	breast:
16	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
17	chr12:67300543..67302588-chr12:67306675..67309652,2	MCF-7	breast:
18	chr12:67408467..67411253-chr12:67422516..67424188,2	K562	blood:
19	chr12:67298346..67300741-chr12:67305071..67306583,2	MCF-7	breast:
20	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
21	chr12:67416068..67418354-chr12:67426398..67428133,2	MCF-7	breast:
22	chr12:67306567..67308676-chr12:67310361..67312988,2	K562	blood:
23	chr12:67314178..67315962-chr12:67342919..67344851,2	K562	blood:
24	chr12:67308306..67310520-chr12:67311991..67314710,2	K562	blood:
25	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
26	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:
27	chr12:67289479..67291060-chr12:67301635..67303898,2	K562	blood:
28	chr12:67308306..67310520-chr12:67311991..67314710,2	K562	blood:
29	chr12:67322533..67324494-chr12:67328156..67330477,2	K562	blood:
30	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
31	chr12:67419005..67419983-chr12:67613517..67614351,5	MCF-7	breast:
32	chr12:67419197..67419716-chr12:67554308..67555068,2	MCF-7	breast:
33	chr12:67418711..67421143-chr12:67461098..67463852,2	MCF-7	breast:
34	chr12:67297515..67298406-chr12:67615824..67616730,3	MCF-7	breast:
35	chr12:67267602..67269180-chr12:67272677..67275456,2	MCF-7	breast:
36	chr12:67405670..67407679-chr12:67409417..67411266,2	K562	blood:
37	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:
38	chr12:67300543..67302588-chr12:67306675..67309652,2	MCF-7	breast:
39	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
40	chr12:67418551..67421085-chr12:67462574..67464115,2	MCF-7	breast:
41	chr12:67313721..67315403-chr3:64008018..64010221,2	MCF-7	breast:
42	chr12:67289452..67290999-chr12:67296445..67299201,2	MCF-7	breast:
43	chr12:67289479..67291060-chr12:67301635..67303898,2	K562	blood:
44	chr12:67426397..67429234-chr12:67432372..67434207,2	MCF-7	breast:
45	chr12:67326854..67328503-chr12:67662512..67664147,2	MCF-7	breast:
46	chr1:234360449..234360966-chr12:67305655..67306184,2	MCF-7	breast:
47	chr12:67272015..67274348-chr12:67462496..67464982,2	MCF-7	breast:
48	chr12:67296029..67298947-chr12:67402634..67404774,2	K562	blood:
49	chr12:67292063..67294236-chr12:67462037..67463720,2	MCF-7	breast:
50	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:

(count:7 , 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-GRIP1-1	chr12:67285656-67285734	ENSG00000256248
5	lnc-GRIP1-1	chr12:67285593-67290880	XLOC_010109
6	lnc-GRIP1-1	chr12:67301276-67301326	XLOC_010109
7	lnc-CAND1-4	chr12:67350633-67350919	l_673_chr12:67349535-67350919_adrenal

No data

Variant related genes	Relation type
ENSG00000111530	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000256248	chromatin interactions
DCBLD2	miRNA target sites

Extended variants
information (count: 5776 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:5776 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557510859	chr12:67273116-67273117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142321641	chr12:67273144-67273145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189666778	chr12:67273163-67273164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs76361234	chr12:67273173-67273174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529245365	chr12:67273177-67273178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201894721	chr12:67273204-67273205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541541111	chr12:67273237-67273238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75590904	chr12:67273279-67273280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs533456295	chr12:67273282-67273283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552038015	chr12:67273365-67273366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs1504320	chr12:67273391-67273392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146367737	chr12:67273435-67273436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138943160	chr12:67273498-67273499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181143562	chr12:67273507-67273508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535123436	chr12:67273579-67273580	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185429104	chr12:67273586-67273587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567375133	chr12:67273588-67273589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539727386	chr12:67273595-67273596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs17103017	chr12:67273608-67273609	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189838092	chr12:67273657-67273658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376841658	chr12:67273677-67273678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113839238	chr12:67273697-67273698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553618448	chr12:67273712-67273713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143754765	chr12:67273748-67273749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555589177	chr12:67273757-67273758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12827976	chr12:67273785-67273786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs78011006	chr12:67273801-67273802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182054751	chr12:67273813-67273814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1252275	chr12:67273827-67273828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186465815	chr12:67273838-67273839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563749293	chr12:67273867-67273868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs117228270	chr12:67273877-67273878	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531095065	chr12:67273880-67273881	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575647375	chr12:67273890-67273891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs549417091	chr12:67273913-67273914	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs567987365	chr12:67273924-67273925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143925502	chr12:67273999-67274000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528743697	chr12:67274008-67274009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547015084	chr12:67274032-67274033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148147530	chr12:67274072-67274073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539162519	chr12:67274073-67274074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs549468154	chr12:67274094-67274095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192110860	chr12:67274105-67274106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141956955	chr12:67274180-67274181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145958418	chr12:67274207-67274208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574018449	chr12:67274260-67274261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35845352	chr12:67274284-67274285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534893883	chr12:67274297-67274298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139869464	chr12:67274304-67274305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs371934596	chr12:67274343-67274344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67258000-67292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67270000-67274000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:67270200-67274000	Enhancers	Fetal Brain Male	brain
4	chr12:67270400-67274000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:67271800-67273800	Enhancers	Fetal Brain Female	brain
6	chr12:67272000-67273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:67272000-67273600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:67272200-67273200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:67272200-67273800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:67272200-67274000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:67272200-67274000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:67272400-67273200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:67272400-67273400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:67272400-67277400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:67272400-67289800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:67272800-67273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:67272800-67274000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:67273000-67277400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:67273200-67273600	Enhancers	Fetal Heart	heart
20	chr12:67273200-67273800	Enhancers	Fetal Stomach	stomach
21	chr12:67273200-67274000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:67273200-67274000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:67273200-67274000	Enhancers	Fetal Kidney	kidney
24	chr12:67273200-67274000	Enhancers	Rectal Smooth Muscle	rectum
25	chr12:67273200-67274200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:67273200-67274200	Enhancers	Colon Smooth Muscle	Colon
27	chr12:67273400-67273800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:67273600-67274000	Enhancers	Right Atrium	heart
29	chr12:67273600-67277400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:67273800-67274000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:67273800-67276800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:67273800-67277400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:67273800-67277800	Weak transcription	Fetal Brain Female	brain
34	chr12:67274000-67275400	Weak transcription	Fetal Brain Male	brain
35	chr12:67274000-67277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr12:67274000-67277400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:67274000-67277600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:67274000-67277600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:67274000-67277800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:67274000-67278800	Weak transcription	Right Atrium	heart
41	chr12:67274000-67279000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:67275400-67275600	Enhancers	Fetal Brain Male	brain
43	chr12:67275600-67276200	Weak transcription	Fetal Brain Male	brain
44	chr12:67276800-67279600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:67277200-67278600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:67277400-67278200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr12:67277400-67278400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr12:67277400-67278600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:67277400-67279400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:67277400-67279600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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