Variant report

Variant	nsv541555
Chromosome Location	chr12:84260079-84387371
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:84368464..84370916-chr12:84373444..84375529,2	K562	blood:
2	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
3	chr12:84368464..84370916-chr12:84373444..84375529,2	K562	blood:
4	chr12:83080291..83081825-chr12:84257884..84260777,2	MCF-7	breast:
5	chr12:84272240..84274157-chr12:84279540..84281050,2	K562	blood:
6	chr12:84377626..84380547-chr12:84384455..84387319,2	MCF-7	breast:
7	chr12:84372191..84375103-chr12:84384034..84387500,3	K562	blood:
8	chr12:84376018..84379310-chr12:84380855..84384204,3	MCF-7	breast:
9	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:
10	chr12:84276799..84278474-chr20:45988477..45990232,2	MCF-7	breast:
11	chr12:84376018..84379310-chr12:84380855..84384204,3	MCF-7	breast:
12	chr12:84377626..84380547-chr12:84384455..84387319,2	MCF-7	breast:
13	chr12:84235620..84237833-chr12:84261114..84263120,2	MCF-7	breast:
14	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
15	chr1:54192091..54193000-chr12:84272022..84272741,2	MCF-7	breast:
16	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
17	chr12:84315911..84318774-chr12:84319552..84322356,2	K562	blood:
18	chr12:84272692..84275018-chr12:84275623..84277392,2	MCF-7	breast:
19	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
20	chr12:84257472..84261320-chr12:84262069..84264682,4	MCF-7	breast:
21	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
22	chr12:84270623..84273533-chr12:84303786..84305748,2	MCF-7	breast:
23	chr12:84219948..84220960-chr12:84349104..84349647,3	MCF-7	breast:
24	chr12:84298030..84299669-chr12:84301549..84304383,2	K562	blood:
25	chr12:84372191..84375103-chr12:84384034..84387500,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179104	chromatin interactions

Extended variants
information (count: 1744 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1744 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145409301	chr12:84260106-84260107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181685165	chr12:84260158-84260159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568280115	chr12:84260187-84260188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535257591	chr12:84260214-84260215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557221680	chr12:84260267-84260268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569101535	chr12:84260326-84260327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371162518	chr12:84260328-84260329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566115830	chr12:84260355-84260356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534025032	chr12:84260368-84260369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539708600	chr12:84260401-84260402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11116077	chr12:84260423-84260424	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533033845	chr12:84260529-84260530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576803924	chr12:84260551-84260552	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541148753	chr12:84260555-84260556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577349380	chr12:84260617-84260618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs553015037	chr12:84260633-84260634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574986625	chr12:84260639-84260640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11116078	chr12:84260646-84260647	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185937641	chr12:84260698-84260699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575883646	chr12:84260705-84260706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535306317	chr12:84260748-84260749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190005697	chr12:84260755-84260756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371034145	chr12:84260776-84260777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12312991	chr12:84260809-84260810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs58017885	chr12:84260816-84260817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548647138	chr12:84260856-84260857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10862781	chr12:84260868-84260869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542653561	chr12:84260910-84260911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182541686	chr12:84260926-84260927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184924380	chr12:84260947-84260948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149122584	chr12:84260998-84260999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551232254	chr12:84261011-84261012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190747940	chr12:84261012-84261013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560858736	chr12:84261054-84261055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114034691	chr12:84261073-84261074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370067625	chr12:84261131-84261132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183035906	chr12:84261146-84261147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535929605	chr12:84261221-84261222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528245084	chr12:84261254-84261255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539932722	chr12:84261255-84261256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2020456	chr12:84261265-84261266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143177510	chr12:84261289-84261290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550702375	chr12:84261353-84261354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11116079	chr12:84261369-84261370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564732021	chr12:84261414-84261415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562450096	chr12:84261428-84261429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12311968	chr12:84261548-84261549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540274712	chr12:84261562-84261563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570633185	chr12:84261598-84261599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561656717	chr12:84261682-84261683	Weak transcription	n/a	n/a	Overlapped CNVs	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
Neurodevelopmental disorder	22521361	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
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:84248000-84264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:84264600-84265000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
3	chr12:84264800-84265000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:84272400-84272600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:84272400-84274400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:84272600-84273800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:84272800-84273000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:84272800-84275200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:84273000-84273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:84273600-84273800	Enhancers	Osteobl	bone
11	chr12:84273600-84274000	Enhancers	HSMM	muscle
12	chr12:84273600-84274400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:84273600-84275200	Enhancers	HMEC	breast
14	chr12:84273600-84275400	Enhancers	NHEK	skin
15	chr12:84273600-84275600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:84273800-84274400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:84273800-84275400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:84274000-84274400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:84274200-84274400	Enhancers	NHDF-Ad	bronchial
20	chr12:84274200-84274600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:84274200-84274800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:84274400-84274600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:84274400-84274800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:84274400-84274800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:84274400-84274800	Flanking Active TSS	NHDF-Ad	bronchial
26	chr12:84274600-84274800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:84274800-84275200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:84274800-84275400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:84275000-84275200	Enhancers	Osteobl	bone
30	chr12:84275400-84278600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:84278600-84279600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:84286600-84287600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:84287600-84290200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:84290200-84290600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:84290400-84290800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:84303000-84304000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:84312000-84312200	Bivalent Enhancer	Fetal Brain Male	brain
38	chr12:84314600-84315400	Enhancers	Fetal Brain Male	brain
39	chr12:84325200-84326400	Enhancers	Fetal Brain Male	brain
40	chr12:84326000-84326400	Enhancers	Fetal Brain Female	brain
41	chr12:84335200-84335600	Enhancers	A549	lung
42	chr12:84335400-84335600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr12:84335400-84335600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:84335600-84339400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:84335600-84339400	Weak transcription	A549	lung
46	chr12:84337400-84337800	Enhancers	NHEK	skin
47	chr12:84337600-84338000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:84338000-84339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:84338400-84338600	Enhancers	NHDF-Ad	bronchial
50	chr12:84338600-84339200	Weak transcription	NHDF-Ad	bronchial

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