Variant report

Variant	esv2763007
Chromosome Location	chr12:121309851-121317278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121312962..121314720-chr12:121324076..121325928,2	K562	blood:
2	chr12:121315603..121319201-chr12:121319262..121323037,3	K562	blood:
3	chr12:121313800..121316654-chr12:121341706..121344079,2	MCF-7	breast:
4	chr12:121316464..121318952-chr12:121321277..121324869,5	K562	blood:

Variant related genes	Relation type
ENSG00000157837	chromatin interactions

Extended variants
information (count: 315 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs647336	chr12:121309851-121309852	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369393389	chr12:121309877-121309878	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539272312	chr12:121310005-121310006	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552540264	chr12:121310012-121310013	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs647881	chr12:121310027-121310028	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs553298159	chr12:121310042-121310043	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553789263	chr12:121310047-121310048	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34553980	chr12:121310048-121310049	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs648262	chr12:121310062-121310063	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs116245298	chr12:121310063-121310064	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142340200	chr12:121310097-121310098	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541792251	chr12:121310178-121310179	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369642378	chr12:121310181-121310182	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374523511	chr12:121310189-121310190	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34612837	chr12:121310190-121310191	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140643208	chr12:121310236-121310237	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563100716	chr12:121310241-121310242	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77714472	chr12:121310277-121310278	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556191846	chr12:121310309-121310310	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs75333725	chr12:121310312-121310313	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs576067422	chr12:121310324-121310325	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77649761	chr12:121310357-121310358	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201339195	chr12:121310365-121310366	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs73217006	chr12:121310380-121310381	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572971817	chr12:121310381-121310382	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115225059	chr12:121310384-121310385	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530651005	chr12:121310422-121310423	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561778737	chr12:121310434-121310435	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530577088	chr12:121310495-121310496	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35325064	chr12:121310525-121310526	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561781183	chr12:121310713-121310714	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182298162	chr12:121310735-121310736	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532730273	chr12:121310738-121310739	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552816488	chr12:121310775-121310776	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140309605	chr12:121310791-121310792	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540960891	chr12:121310811-121310812	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545532769	chr12:121310812-121310813	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs528680323	chr12:121310829-121310830	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs150341967	chr12:121310846-121310847	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548335470	chr12:121310851-121310852	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs34188832	chr12:121310860-121310861	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138023999	chr12:121310918-121310919	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537145415	chr12:121311023-121311024	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs532343159	chr12:121311036-121311037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs187702725	chr12:121311070-121311071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570807932	chr12:121311092-121311093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539378365	chr12:121311105-121311106	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs553253506	chr12:121311183-121311184	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs552303999	chr12:121311184-121311185	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149493691	chr12:121311196-121311197	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121283200-121310200	Weak transcription	Placenta	Placenta
2	chr12:121288000-121311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:121288000-121316600	Weak transcription	NHLF	lung
4	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
5	chr12:121291600-121312400	Weak transcription	Gastric	stomach
6	chr12:121292000-121312400	Weak transcription	Aorta	Aorta
7	chr12:121294200-121340400	Weak transcription	HSMM	muscle
8	chr12:121294600-121310200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:121295000-121310200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:121295000-121310200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:121295000-121311000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:121295000-121316200	Weak transcription	HMEC	breast
13	chr12:121296200-121311000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:121296600-121310800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:121297200-121310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:121297400-121311800	Weak transcription	Dnd41	blood
17	chr12:121297400-121339800	Weak transcription	A549	lung
18	chr12:121297600-121315200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:121298400-121313600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:121300600-121310000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:121300600-121310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:121300600-121310200	Weak transcription	Psoas Muscle	Psoas
23	chr12:121300600-121310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:121300600-121312400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:121300600-121328800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:121302000-121328800	Weak transcription	Fetal Intestine Large	intestine
27	chr12:121303200-121310200	Weak transcription	Adipose Nuclei	Adipose
28	chr12:121303200-121310200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:121303200-121310200	Weak transcription	Right Atrium	heart
30	chr12:121303400-121312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:121303600-121310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:121303600-121311000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:121303600-121312400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:121303600-121312400	Weak transcription	Pancreas	Pancrea
35	chr12:121303800-121310000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:121303800-121310000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:121303800-121310200	Weak transcription	Spleen	Spleen
38	chr12:121303800-121312400	Weak transcription	Lung	lung
39	chr12:121304200-121310200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:121304200-121310600	Weak transcription	Brain Angular Gyrus	brain
41	chr12:121304200-121329800	Weak transcription	K562	blood
42	chr12:121304600-121310200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:121304600-121310200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr12:121304600-121310800	Weak transcription	Primary T cells from cord blood	blood
45	chr12:121304600-121311800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:121304600-121339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:121304800-121310400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:121304800-121312600	Weak transcription	Stomach Mucosa	stomach
49	chr12:121304800-121322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:121304800-121324200	Weak transcription	Rectal Mucosa Donor 31	rectum

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