Variant report

Variant	nsv559210
Chromosome Location	chr12:67339554-67398938
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	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
2	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
3	chr12:67390978..67393668-chr12:67401763..67404161,2	MCF-7	breast:
4	chr12:67352323..67355212-chr12:67461055..67464112,3	MCF-7	breast:
5	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
6	chr12:67352783..67353464-chr12:67479586..67480363,2	MCF-7	breast:
7	chr12:67376717..67378720-chr12:67409319..67411495,2	MCF-7	breast:
8	chr12:67354444..67357348-chr12:67368007..67370761,2	MCF-7	breast:
9	chr12:67331706..67334297-chr12:67337234..67339922,3	K562	blood:
10	chr12:67314178..67315962-chr12:67342919..67344851,2	K562	blood:
11	chr12:67352176..67353838-chr12:67356274..67358051,2	MCF-7	breast:
12	chr12:67346635..67348185-chr12:67352722..67355002,2	MCF-7	breast:
13	chr12:67331706..67333236-chr12:67337234..67339922,2	K562	blood:
14	chr12:67354144..67356767-chr12:67362428..67365138,2	MCF-7	breast:
15	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-CAND1-4	chr12:67350633-67350919	l_673_chr12:67349535-67350919_adrenal
2	lnc-GRIP1-5	chr12:67364375-67366403	NONHSAT029235
3	lnc-CAND1-4	chr12:67349536-67349564	l_673_chr12:67349535-67350919_adrenal
4	lnc-CAND1-4	chr12:67350272-67350614	l_673_chr12:67349535-67350919_adrenal

No data

Variant related genes	Relation type
ENSG00000256248	chromatin interactions

Extended variants
information (count: 2163 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2163 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4913515	chr12:67339554-67339555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532699281	chr12:67339653-67339654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11176491	chr12:67339747-67339748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184224850	chr12:67339759-67339760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73333054	chr12:67339762-67339763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548620963	chr12:67339777-67339778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189738807	chr12:67339785-67339786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372896286	chr12:67339834-67339835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543076743	chr12:67339882-67339883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181225088	chr12:67339904-67339905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546238875	chr12:67339934-67339935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142474812	chr12:67339968-67339969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538359313	chr12:67339970-67339971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144601466	chr12:67339982-67339983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575370814	chr12:67340002-67340003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536413097	chr12:67340043-67340044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569438026	chr12:67340114-67340115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554453381	chr12:67340128-67340129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7966850	chr12:67340137-67340138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559809936	chr12:67340148-67340149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548554942	chr12:67340177-67340178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540529523	chr12:67340207-67340208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565318422	chr12:67340275-67340276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186152164	chr12:67340288-67340289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548801164	chr12:67340292-67340293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568628051	chr12:67340297-67340298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562969273	chr12:67340314-67340315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189406954	chr12:67340368-67340369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548797369	chr12:67340390-67340391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560518909	chr12:67340455-67340456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180693051	chr12:67340489-67340490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573158515	chr12:67340500-67340501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552415070	chr12:67340509-67340510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570914573	chr12:67340510-67340511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538220320	chr12:67340511-67340512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574966401	chr12:67340553-67340554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537292136	chr12:67340566-67340567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531116503	chr12:67340685-67340686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147884070	chr12:67340690-67340691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568970206	chr12:67340728-67340729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535943756	chr12:67340750-67340751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554795488	chr12:67340756-67340757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572942382	chr12:67340779-67340780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34544667	chr12:67340805-67340806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534089865	chr12:67340873-67340874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7136625	chr12:67340896-67340897	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577329001	chr12:67340899-67340900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117093888	chr12:67340903-67340904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562722065	chr12:67340942-67340943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574925391	chr12:67340943-67340944	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
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:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67335400-67340800	Weak transcription	HMEC	breast
2	chr12:67335800-67345200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:67336400-67343600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:67337600-67344800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:67337800-67339600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:67338200-67339600	Enhancers	NHEK	skin
7	chr12:67338400-67339600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:67338600-67339600	Weak transcription	Primary T cells from cord blood	blood
9	chr12:67338600-67339600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:67338600-67342200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:67339000-67340000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:67339000-67340000	Enhancers	Colon Smooth Muscle	Colon
13	chr12:67339200-67339600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:67339200-67339800	Enhancers	Gastric	stomach
15	chr12:67339400-67339600	Enhancers	Brain Anterior Caudate	brain
16	chr12:67339400-67339800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:67339600-67339800	Enhancers	Primary T cells from cord blood	blood
18	chr12:67339600-67340800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:67339600-67347000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:67340000-67341000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:67340000-67344800	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:67340800-67341000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:67340800-67341200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:67340800-67341200	Enhancers	HMEC	breast
25	chr12:67341000-67341400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:67341000-67341800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:67341800-67345200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:67342200-67342600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:67344600-67346000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:67344800-67345800	Enhancers	Colon Smooth Muscle	Colon
31	chr12:67344800-67346000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:67345000-67345200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:67345000-67345400	Enhancers	Fetal Kidney	kidney
34	chr12:67345200-67345600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:67345200-67345800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:67345200-67346000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:67345200-67346000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:67345200-67346000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:67345200-67346000	Enhancers	Psoas Muscle	Psoas
40	chr12:67345200-67346000	Enhancers	Rectal Smooth Muscle	rectum
41	chr12:67345400-67345800	Enhancers	Brain Hippocampus Middle	brain
42	chr12:67345400-67345800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr12:67345400-67345800	Weak transcription	Fetal Kidney	kidney
44	chr12:67345600-67347800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:67345800-67346000	Enhancers	Fetal Brain Male	brain
46	chr12:67345800-67346000	Enhancers	Fetal Kidney	kidney
47	chr12:67345800-67346200	Enhancers	Fetal Brain Female	brain
48	chr12:67346000-67346400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:67346000-67353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:67346000-67353800	Weak transcription	Fetal Kidney	kidney

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