Variant report

Variant	nsv1053044
Chromosome Location	chr12:85843030-85942504
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:85870710..85871639-chr12:86266180..86266857,2	MCF-7	breast:
2	chr12:85861848..85863045-chr12:86266253..86266913,4	MCF-7	breast:
3	chr12:85930199..85932678-chr12:85934950..85937006,2	K562	blood:
4	chr12:85870834..85871570-chr12:86260678..86261344,3	MCF-7	breast:
5	chr12:85940120..85942691-chr12:85944053..85946791,2	MCF-7	breast:
6	chr12:85846574..85849271-chr12:85855607..85858014,2	MCF-7	breast:
7	chr12:85916869..85918658-chr12:85921402..85924342,2	K562	blood:
8	chr12:85862041..85863123-chr12:86313866..86314895,4	MCF-7	breast:
9	chr12:85846574..85849271-chr12:85855607..85858014,2	MCF-7	breast:
10	chr12:85908005..85909863-chr12:85911172..85913825,2	MCF-7	breast:
11	chr12:85905968..85908916-chr17:58676509..58679332,2	MCF-7	breast:
12	chr12:85908005..85909863-chr12:85911172..85913825,2	MCF-7	breast:
13	chr12:85916869..85918658-chr12:85921402..85924342,2	K562	blood:
14	chr12:85889329..85890032-chr12:85900621..85901187,2	MCF-7	breast:
15	chr12:85889329..85890032-chr12:85900621..85901187,2	MCF-7	breast:
16	chr12:85869160..85871446-chr12:85872180..85874528,2	K562	blood:
17	chr12:85930199..85932678-chr12:85934950..85937006,2	K562	blood:
18	chr12:85869160..85871446-chr12:85872180..85874528,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170836	chromatin interactions

Extended variants
information (count: 2067 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2067 , 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	rs544569445	chr12:85843038-85843039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559745849	chr12:85843060-85843061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527378857	chr12:85843061-85843062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79243819	chr12:85843086-85843087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189806121	chr12:85843098-85843099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79322415	chr12:85843146-85843147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77182420	chr12:85843170-85843171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150805845	chr12:85843176-85843177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540172406	chr12:85843177-85843178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76168290	chr12:85843236-85843237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7296625	chr12:85843253-85843254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534287365	chr12:85843266-85843267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60426308	chr12:85843318-85843319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558011236	chr12:85843336-85843337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77769350	chr12:85843378-85843379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577412112	chr12:85843430-85843431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75832838	chr12:85843445-85843446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552285762	chr12:85843446-85843447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79297687	chr12:85843447-85843448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59770637	chr12:85843448-85843449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537614102	chr12:85843564-85843565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555954638	chr12:85843598-85843599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577494432	chr12:85843601-85843602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544949373	chr12:85843602-85843603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572379886	chr12:85843630-85843631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538163818	chr12:85843680-85843681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577955536	chr12:85843687-85843688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556311847	chr12:85843695-85843696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139192248	chr12:85843700-85843701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186558267	chr12:85843782-85843783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188033487	chr12:85843786-85843787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541212176	chr12:85843826-85843827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58474054	chr12:85843832-85843833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574697046	chr12:85843859-85843860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564229621	chr12:85843891-85843892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560796456	chr12:85843946-85843947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531453223	chr12:85843947-85843948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145277862	chr12:85843960-85843961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377325305	chr12:85843988-85843989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563101099	chr12:85844049-85844050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533662360	chr12:85844110-85844111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116376950	chr12:85844137-85844138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78768340	chr12:85844181-85844182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180889768	chr12:85844190-85844191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549380500	chr12:85844222-85844223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567617945	chr12:85844230-85844231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538370440	chr12:85844278-85844279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186186619	chr12:85844336-85844337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190989664	chr12:85844377-85844378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7304442	chr12:85844384-85844385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:67)

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
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85843000-85843400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:85843200-85843400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:85843400-85845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:85843400-85846400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:85845200-85845400	Enhancers	Spleen	Spleen
6	chr12:85845200-85845800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr12:85845600-85846000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:85845600-85846000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:85850400-85851400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:85850800-85851400	Enhancers	NHEK	skin
11	chr12:85851400-85854800	Weak transcription	NHEK	skin
12	chr12:85851400-85859200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:85854800-85855400	Enhancers	NHEK	skin
14	chr12:85855000-85855400	Enhancers	HMEC	breast
15	chr12:85855200-85855600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:85855400-85858600	Weak transcription	HMEC	breast
17	chr12:85855400-85858600	Weak transcription	NHEK	skin
18	chr12:85855600-85859800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:85856600-85857400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:85856600-85859600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:85856600-85859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:85856800-85857000	Enhancers	Fetal Kidney	kidney
23	chr12:85856800-85857200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr12:85856800-85857200	Enhancers	Primary T cells from cord blood	blood
25	chr12:85856800-85857200	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:85857200-85858200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:85857200-85858800	Weak transcription	Fetal Kidney	kidney
28	chr12:85857200-85861200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:85857400-85858400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:85858200-85860000	Enhancers	Primary hematopoietic stem cells	blood
31	chr12:85858400-85859600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:85858600-85859000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:85858600-85859000	Enhancers	HSMMtube	muscle
34	chr12:85858600-85859600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:85858600-85859600	Enhancers	NH-A	brain
36	chr12:85858600-85860400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:85858600-85861400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr12:85858600-85862600	Enhancers	HSMM	muscle
39	chr12:85858600-85862600	Enhancers	NHEK	skin
40	chr12:85858600-85863000	Enhancers	HMEC	breast
41	chr12:85858800-85859200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:85858800-85859600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:85858800-85860000	Enhancers	Fetal Kidney	kidney
44	chr12:85858800-85860800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:85859000-85859200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:85859000-85859400	Weak transcription	HSMMtube	muscle
47	chr12:85859000-85859800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:85859200-85859400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:85859200-85860200	Enhancers	Adipose Nuclei	Adipose
50	chr12:85859200-85860400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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