Variant report

Variant	nsv437142
Chromosome Location	chr12:32327158-32354966
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	chr12:32330903..32333479-chr12:32337570..32339472,2	MCF-7	breast:
2	chr12:32337947..32340107-chr12:32424491..32426226,2	MCF-7	breast:
3	chr12:32331886..32334489-chr12:32336141..32338880,2	MCF-7	breast:
4	chr12:19252123..19253033-chr12:32351728..32352518,2	MCF-7	breast:
5	chr12:32330686..32332341-chr12:32334381..32336776,2	MCF-7	breast:
6	chr12:32331886..32334489-chr12:32336141..32338880,2	MCF-7	breast:
7	chr12:32331693..32333915-chr12:32344800..32346339,2	MCF-7	breast:
8	chr12:32258516..32260709-chr12:32337537..32339747,2	MCF-7	breast:
9	chr12:32329357..32331933-chr12:32333033..32336522,3	K562	blood:
10	chr12:32331693..32333915-chr12:32344800..32346339,2	MCF-7	breast:
11	chr12:32323730..32326324-chr12:32330475..32332808,2	MCF-7	breast:
12	chr12:32319324..32321253-chr12:32328416..32330377,2	K562	blood:
13	chr12:32330903..32333479-chr12:32337570..32339472,2	MCF-7	breast:
14	chr12:32317237..32319150-chr12:32328249..32330207,2	K562	blood:
15	chr12:32330686..32332341-chr12:32334381..32336776,2	MCF-7	breast:
16	chr12:32329357..32331933-chr12:32333033..32336522,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257530	chromatin interactions
ENSG00000151746	chromatin interactions

Extended variants
information (count: 1006 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10844149	chr12:32327158-32327159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12315798	chr12:32327175-32327176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536331477	chr12:32327180-32327181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556584810	chr12:32327204-32327205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576482454	chr12:32327245-32327246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538986643	chr12:32327291-32327292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188614240	chr12:32327297-32327298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572764545	chr12:32327337-32327338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528751566	chr12:32327338-32327339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561300394	chr12:32327360-32327361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148619273	chr12:32327366-32327367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549148244	chr12:32327376-32327377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142114191	chr12:32327386-32327387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61926928	chr12:32327428-32327429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549767357	chr12:32327436-32327437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139885508	chr12:32327437-32327438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184317549	chr12:32327446-32327447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571421466	chr12:32327472-32327473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151180859	chr12:32327523-32327524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187106497	chr12:32327543-32327544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547171739	chr12:32327578-32327579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560875912	chr12:32327592-32327593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528254083	chr12:32327665-32327666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547323733	chr12:32327711-32327712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372768921	chr12:32327720-32327721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80054772	chr12:32327747-32327748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140209209	chr12:32327766-32327767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549712711	chr12:32327785-32327786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570089517	chr12:32327854-32327855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539172584	chr12:32327860-32327861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558986608	chr12:32327868-32327869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571358222	chr12:32327869-32327870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535033531	chr12:32327972-32327973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555217824	chr12:32327989-32327990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191611132	chr12:32328013-32328014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543957554	chr12:32328055-32328056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557313351	chr12:32328082-32328083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575729063	chr12:32328112-32328113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544733129	chr12:32328114-32328115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74475433	chr12:32328119-32328120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527258851	chr12:32328120-32328121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540691467	chr12:32328148-32328149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561189038	chr12:32328180-32328181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529953697	chr12:32328199-32328200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538686128	chr12:32328236-32328237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184601105	chr12:32328243-32328244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189534482	chr12:32328247-32328248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201734454	chr12:32328250-32328251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550420383	chr12:32328320-32328321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546432310	chr12:32328406-32328407	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32287800-32328400	Weak transcription	Aorta	Aorta
3	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
4	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:32300200-32336600	Weak transcription	A549	lung
7	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:32309400-32353400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:32309600-32336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:32309600-32346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:32309600-32351400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:32309600-32352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:32309800-32336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:32309800-32336600	Weak transcription	HMEC	breast
15	chr12:32313200-32336600	Weak transcription	NH-A	brain
16	chr12:32313400-32331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:32313400-32369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:32315000-32333000	Weak transcription	Right Atrium	heart
19	chr12:32315400-32346000	Weak transcription	Primary B cells from cord blood	blood
20	chr12:32315600-32336600	Weak transcription	HSMM	muscle
21	chr12:32316400-32334600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:32318000-32327800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:32319800-32330800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:32319800-32331200	Weak transcription	Fetal Brain Female	brain
25	chr12:32319800-32340400	Weak transcription	Fetal Intestine Small	intestine
26	chr12:32319800-32343600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:32321600-32331600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:32324200-32331200	Weak transcription	HSMMtube	muscle
30	chr12:32325400-32330800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:32325400-32331000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:32325400-32334000	Weak transcription	Fetal Brain Male	brain
33	chr12:32325400-32347000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:32325600-32331600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:32325600-32334600	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:32325800-32327800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:32325800-32331000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:32325800-32331200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:32325800-32331200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:32325800-32331200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:32325800-32331200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:32325800-32333400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:32326000-32351400	Weak transcription	Osteobl	bone
44	chr12:32326000-32353200	Weak transcription	Ovary	ovary
45	chr12:32326200-32338400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:32326400-32328800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr12:32327600-32337800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:32327800-32329600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:32328400-32328600	ZNF genes & repeats	Aorta	Aorta
50	chr12:32328600-32337800	Weak transcription	Aorta	Aorta

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