Variant report

Variant	esv3353478
Chromosome Location	chr12:121483969-121486067
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	chr12:121483901..121486142-chr12:121487218..121490045,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530440268	chr12:121483993-121483994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550523848	chr12:121483998-121483999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563856667	chr12:121484026-121484027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188043391	chr12:121484034-121484035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192502141	chr12:121484035-121484036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139352855	chr12:121484177-121484178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539284172	chr12:121484179-121484180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566280725	chr12:121484254-121484255	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535187945	chr12:121484341-121484342	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552582490	chr12:121484346-121484347	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373724692	chr12:121484373-121484374	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183553104	chr12:121484376-121484377	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537076856	chr12:121484386-121484387	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200570697	chr12:121484395-121484396	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34778475	chr12:121484396-121484397	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398021379	chr12:121484416-121484417	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557306590	chr12:121484419-121484420	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188598331	chr12:121484460-121484461	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539347940	chr12:121484516-121484517	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552805651	chr12:121484528-121484529	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192832065	chr12:121484541-121484542	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146326378	chr12:121484567-121484568	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561651258	chr12:121484568-121484569	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115048018	chr12:121484570-121484571	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35871705	chr12:121484621-121484622	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543902990	chr12:121484635-121484636	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs564105514	chr12:121484667-121484668	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532744275	chr12:121484693-121484694	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs371647509	chr12:121484694-121484695	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73419630	chr12:121484710-121484711	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184967988	chr12:121484714-121484715	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs201326302	chr12:121484742-121484743	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs199701013	chr12:121484745-121484746	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188367110	chr12:121484749-121484750	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556073517	chr12:121484750-121484751	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs1179997	chr12:121484751-121484752	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532545132	chr12:121484752-121484753	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs77782095	chr12:121484753-121484754	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs28839806	chr12:121484755-121484756	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs28798990	chr12:121484757-121484758	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs369653637	chr12:121484769-121484770	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369664163	chr12:121484771-121484772	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs149429432	chr12:121484772-121484773	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546012290	chr12:121484773-121484774	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191322846	chr12:121484787-121484788	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570830583	chr12:121484793-121484794	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539409578	chr12:121484805-121484806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28770535	chr12:121484807-121484808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs28859981	chr12:121484825-121484826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28804190	chr12:121484831-121484832	Weak transcription Enhancers	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
Intracranial arachnoid cysts	20187927	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121481200-121484400	Weak transcription	K562	blood
2	chr12:121482000-121485800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:121482600-121484600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:121483000-121484000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:121483200-121484000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:121483600-121484400	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr12:121483800-121484200	Enhancers	Stomach Mucosa	stomach
8	chr12:121484000-121484200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr12:121484000-121484400	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:121484200-121484400	Flanking Active TSS	Placenta	Placenta
11	chr12:121484200-121485400	Weak transcription	Stomach Mucosa	stomach
12	chr12:121484400-121484600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:121484400-121484600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:121484400-121484600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:121484400-121484600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:121484400-121484600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr12:121484400-121484800	Enhancers	Placenta	Placenta
18	chr12:121484400-121485600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:121484400-121486600	Enhancers	K562	blood
20	chr12:121484600-121484800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:121484600-121486200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:121484800-121485800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:121485000-121486200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:121485400-121486800	Enhancers	Stomach Mucosa	stomach

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