Variant report

Variant	esv3485975
Chromosome Location	chr12:40301623-40315887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40313077..40313679-chr12:59990152..59990853,2	Hela-S3	cervix:
2	chr12:40301225..40304048-chr12:40312812..40315442,2	K562	blood:
3	chr12:40301225..40304048-chr12:40312812..40315442,2	K562	blood:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 504 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146570992	chr12:40301672-40301673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141310399	chr12:40301691-40301692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554303978	chr12:40301698-40301699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7135753	chr12:40301720-40301721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112566342	chr12:40301721-40301722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139643819	chr12:40301725-40301726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367625183	chr12:40301729-40301730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558232382	chr12:40301733-40301734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576487844	chr12:40301736-40301737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143764439	chr12:40301744-40301745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538642653	chr12:40301759-40301760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562338919	chr12:40301775-40301776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7134965	chr12:40301818-40301819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542088874	chr12:40301845-40301846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17559744	chr12:40301861-40301862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs527692054	chr12:40301866-40301867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7135099	chr12:40301898-40301899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs376000891	chr12:40301906-40301907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17559800	chr12:40301946-40301947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531841016	chr12:40301947-40301948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185009506	chr12:40301953-40301954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145818061	chr12:40301985-40301986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568624871	chr12:40302049-40302050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146662494	chr12:40302064-40302065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535640800	chr12:40302068-40302069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554470654	chr12:40302072-40302073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187928698	chr12:40302086-40302087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533552066	chr12:40302097-40302098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558119657	chr12:40302124-40302125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2404349	chr12:40302130-40302131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193195495	chr12:40302218-40302219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556117052	chr12:40302227-40302228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376496007	chr12:40302245-40302246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185158408	chr12:40302253-40302254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541616024	chr12:40302382-40302383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148994747	chr12:40302416-40302417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544411585	chr12:40302418-40302419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572242528	chr12:40302498-40302499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143816452	chr12:40302516-40302517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564453055	chr12:40302544-40302545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12425167	chr12:40302581-40302582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572107437	chr12:40302587-40302588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11612814	chr12:40302599-40302600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs78474030	chr12:40302698-40302699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371532893	chr12:40302705-40302706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529492191	chr12:40302726-40302727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560230097	chr12:40302773-40302774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148177483	chr12:40302774-40302775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141107434	chr12:40302782-40302783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112076463	chr12:40302792-40302793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40298400-40314200	Weak transcription	Fetal Kidney	kidney
2	chr12:40298800-40311200	Weak transcription	Pancreas	Pancrea
3	chr12:40299200-40304400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:40299200-40305600	Weak transcription	Esophagus	oesophagus
5	chr12:40299200-40306400	Weak transcription	Left Ventricle	heart
6	chr12:40299600-40306200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:40299600-40309200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:40300000-40306200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:40300200-40309000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:40300600-40302000	Weak transcription	Fetal Brain Male	brain
11	chr12:40302400-40302600	Enhancers	Fetal Brain Male	brain
12	chr12:40303200-40312200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:40303800-40304000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:40304200-40305800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:40304600-40305000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:40304600-40307000	Enhancers	Liver	Liver
17	chr12:40305600-40305800	Enhancers	Esophagus	oesophagus
18	chr12:40305800-40307000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr12:40305800-40307200	Enhancers	Stomach Mucosa	stomach
20	chr12:40306200-40306400	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:40306200-40306400	Enhancers	Stomach Smooth Muscle	stomach
22	chr12:40306200-40306600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:40306200-40306800	Enhancers	NHEK	skin
24	chr12:40306200-40307000	Enhancers	HepG2	liver
25	chr12:40306400-40306600	Enhancers	Left Ventricle	heart
26	chr12:40306400-40306800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:40307800-40309800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:40309000-40309200	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr12:40309200-40309400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:40309200-40309800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:40309200-40310000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:40309600-40311000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:40309800-40310800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:40309800-40310800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:40310400-40311600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:40310800-40311400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:40310800-40311600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:40310800-40311600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:40311000-40311200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:40311000-40311400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:40311000-40311600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:40311200-40311400	Enhancers	Aorta	Aorta
43	chr12:40311200-40311400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr12:40311200-40311600	Enhancers	Pancreas	Pancrea
45	chr12:40311400-40315400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:40311400-40317800	Weak transcription	Aorta	Aorta
47	chr12:40311600-40314600	Weak transcription	Pancreas	Pancrea
48	chr12:40311600-40315000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr12:40311600-40315200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:40311600-40316200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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