Variant report

Variant	esv3353421
Chromosome Location	chr12:121192369-121192945
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	chr12:121191123..121193615-chr12:121194473..121197241,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560658790	chr12:121192369-121192370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574232717	chr12:121192388-121192389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549145835	chr12:121192397-121192398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78937607	chr12:121192411-121192412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77414924	chr12:121192413-121192414	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563324723	chr12:121192423-121192424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373067208	chr12:121192426-121192427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565777793	chr12:121192431-121192432	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs144336004	chr12:121192485-121192486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190618614	chr12:121192489-121192490	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs565552160	chr12:121192510-121192511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183427014	chr12:121192604-121192605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs2393725	chr12:121192619-121192620	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534415	chr12:121192687-121192688	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs536776903	chr12:121192755-121192756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549989153	chr12:121192761-121192762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs115260270	chr12:121192763-121192764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs34866490	chr12:121192774-121192775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs397943162	chr12:121192778-121192779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556213903	chr12:121192816-121192817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs116101823	chr12:121192890-121192891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs187915455	chr12:121192902-121192903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35022263	chr12:121192906-121192907	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576104226	chr12:121192920-121192921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177800-121197800	Weak transcription	Gastric	stomach
3	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
5	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
6	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
7	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
8	chr12:121186600-121192400	Weak transcription	Fetal Intestine Small	intestine
9	chr12:121189600-121197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:121190400-121197800	Weak transcription	Right Atrium	heart
11	chr12:121191800-121192400	Weak transcription	GM12878-XiMat	blood
12	chr12:121192400-121192600	Weak transcription	Placenta	Placenta
13	chr12:121192400-121192800	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr12:121192400-121194000	ZNF genes & repeats	GM12878-XiMat	blood
15	chr12:121192800-121194400	Weak transcription	Fetal Intestine Small	intestine

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