Variant report

Variant	esv275101
Chromosome Location	chr12:72365321-72370217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:72332248..72333055-chr12:72366318..72367061,2	MCF-7	breast:
2	chr12:72360555..72364246-chr12:72365542..72367706,3	K562	blood:

Variant related genes	Relation type
ENSG00000139287	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17110540	chr12:72365321-72365322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533530063	chr12:72365354-72365355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551700969	chr12:72365390-72365391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115394673	chr12:72365394-72365395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531140073	chr12:72365434-72365435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548946548	chr12:72365436-72365437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140756438	chr12:72365473-72365474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73342886	chr12:72365479-72365480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566632643	chr12:72365507-72365508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116520310	chr12:72365526-72365527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571658314	chr12:72365547-72365548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192790406	chr12:72365603-72365604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59427921	chr12:72365682-72365683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149376579	chr12:72365716-72365717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144737395	chr12:72365717-72365718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536591199	chr12:72365811-72365812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554602172	chr12:72365812-72365813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572830183	chr12:72365839-72365840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7963226	chr12:72365866-72365867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183940727	chr12:72365877-72365878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576889717	chr12:72365886-72365887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11179020	chr12:72365900-72365901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs578090937	chr12:72365920-72365921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540924761	chr12:72365937-72365938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531102848	chr12:72365941-72365942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7978482	chr12:72365973-72365974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561250418	chr12:72365983-72365984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528430095	chr12:72366003-72366004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574246238	chr12:72366071-72366072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7978692	chr12:72366118-72366119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7963720	chr12:72366186-72366187	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs372343116	chr12:72366276-72366277	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532526928	chr12:72366285-72366286	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs376240384	chr12:72366292-72366293	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368485425	chr12:72366302-72366303	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs17110563	chr12:72366306-72366307	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371804418	chr12:72366307-72366308	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs41317132	chr12:72366326-72366327	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371750104	chr12:72366349-72366350	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139896303	chr12:72366364-72366365	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149833912	chr12:72366368-72366369	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs267603658	chr12:72366419-72366420	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113591706	chr12:72366499-72366500	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112342169	chr12:72366511-72366512	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566787186	chr12:72366525-72366526	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533752071	chr12:72366583-72366584	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185698375	chr12:72366635-72366636	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10879348	chr12:72366639-72366640	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs17110566	chr12:72366647-72366648	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs377713022	chr12:72366692-72366693	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Breast cancer	21364760	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72361200-72366200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:72361200-72366400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:72361400-72366400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:72361800-72366400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:72362000-72366400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:72362600-72366000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:72362600-72366400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:72363400-72365400	Enhancers	Liver	Liver
9	chr12:72363600-72366200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:72363600-72367800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:72364200-72366200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:72365400-72366800	Weak transcription	Liver	Liver
13	chr12:72366200-72366600	Active TSS	Brain Substantia Nigra	brain
14	chr12:72366200-72366800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:72366200-72367000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:72366200-72367000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:72366200-72367000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:72366400-72366600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr12:72366400-72367000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr12:72366400-72367200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:72366400-72367400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:72366600-72367000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:72366800-72367000	Enhancers	Liver	Liver
24	chr12:72367000-72376200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:72367000-72376200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:72367200-72367800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:72367800-72368000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:72368000-72368800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:72368800-72374200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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