Variant report

Variant	nsv525987
Chromosome Location	chr12:67336812-67394408
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:15)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:
2	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
3	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:
4	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
5	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
6	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
7	chr12:67352783..67353464-chr12:67479586..67480363,2	MCF-7	breast:
8	chr12:67314178..67315962-chr12:67342919..67344851,2	K562	blood:
9	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
10	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
11	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
12	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
13	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
14	chr12:67352323..67355212-chr12:67461055..67464112,3	MCF-7	breast:
15	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAND1-4	chr12:67349536-67349564	l_673_chr12:67349535-67350919_adrenal
2	lnc-CAND1-4	chr12:67350272-67350614	l_673_chr12:67349535-67350919_adrenal
3	lnc-GRIP1-5	chr12:67364375-67366403	NONHSAT029235
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: 2090 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2090 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10784600	chr12:67336812-67336813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12099740	chr12:67336839-67336840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565800212	chr12:67336881-67336882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57242270	chr12:67336887-67336888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184052692	chr12:67336937-67336938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569709612	chr12:67336970-67336971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375529209	chr12:67337142-67337143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555535811	chr12:67337171-67337172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146457052	chr12:67337225-67337226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139337309	chr12:67337232-67337233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553519273	chr12:67337250-67337251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187643254	chr12:67337252-67337253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539019203	chr12:67337337-67337338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141893727	chr12:67337364-67337365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190664561	chr12:67337366-67337367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530241767	chr12:67337403-67337404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182858701	chr12:67337425-67337426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371909819	chr12:67337433-67337434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117394795	chr12:67337487-67337488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576288034	chr12:67337510-67337511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544933746	chr12:67337567-67337568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561599991	chr12:67337584-67337585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552619528	chr12:67337654-67337655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116822441	chr12:67337676-67337677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187246731	chr12:67337691-67337692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114387149	chr12:67337719-67337720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192842498	chr12:67337722-67337723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551250267	chr12:67337742-67337743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569722200	chr12:67337749-67337750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537000446	chr12:67337753-67337754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549474544	chr12:67337763-67337764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567689518	chr12:67337826-67337827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147082478	chr12:67337847-67337848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553340306	chr12:67337872-67337873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539283946	chr12:67337916-67337917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552578656	chr12:67337965-67337966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148131254	chr12:67338008-67338009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77316552	chr12:67338028-67338029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59099543	chr12:67338084-67338085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537845062	chr12:67338096-67338097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141950200	chr12:67338115-67338116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150524134	chr12:67338134-67338135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138556857	chr12:67338160-67338161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572195214	chr12:67338162-67338163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs118171463	chr12:67338188-67338189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114813277	chr12:67338208-67338209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114418705	chr12:67338227-67338228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551264485	chr12:67338245-67338246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372392532	chr12:67338287-67338288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563211105	chr12:67338299-67338300	Enhancers Weak transcription	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67328800-67339200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67335000-67338200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr12:67335200-67337600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:67335200-67338000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:67335400-67337000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:67335400-67340800	Weak transcription	HMEC	breast
7	chr12:67335600-67337200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:67335800-67337200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:67335800-67345200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:67336000-67337800	Weak transcription	Primary T cells from cord blood	blood
11	chr12:67336400-67337400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr12:67336400-67338400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:67336400-67338600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:67336400-67343600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:67336600-67337800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:67336600-67338000	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:67336600-67338600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:67336800-67337800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:67336800-67338000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:67337000-67338000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:67337200-67338200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:67337200-67338200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:67337400-67337800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:67337600-67344800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:67337800-67338200	Enhancers	Brain Anterior Caudate	brain
26	chr12:67337800-67338600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:67337800-67338600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:67337800-67338600	Enhancers	Primary T cells from cord blood	blood
29	chr12:67337800-67339600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:67338000-67338600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:67338000-67338600	Enhancers	Colon Smooth Muscle	Colon
32	chr12:67338000-67339400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:67338200-67338400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:67338200-67338400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:67338200-67338800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:67338200-67339400	Weak transcription	Brain Anterior Caudate	brain
37	chr12:67338200-67339600	Enhancers	NHEK	skin
38	chr12:67338400-67338600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:67338400-67339600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:67338600-67339000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:67338600-67339000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:67338600-67339000	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:67338600-67339400	Enhancers	Esophagus	oesophagus
44	chr12:67338600-67339600	Weak transcription	Primary T cells from cord blood	blood
45	chr12:67338600-67339600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:67338600-67342200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:67339000-67339400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:67339000-67340000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr12:67339000-67340000	Enhancers	Colon Smooth Muscle	Colon
50	chr12:67339200-67339600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links