Variant report

Variant	esv3427750
Chromosome Location	chr12:122282219-122284417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122270278..122272801-chr12:122280369..122282682,2	K562	blood:
2	chr12:122283312..122286212-chr12:122291727..122293829,2	K562	blood:
3	chr12:122277494..122279304-chr12:122281491..122283464,2	K562	blood:
4	chr12:122233750..122235610-chr12:122279826..122282570,2	K562	blood:
5	chr12:122274897..122277806-chr12:122281648..122283265,2	MCF-7	breast:
6	chr12:122277992..122280217-chr12:122283383..122286165,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212694	chromatin interactions
ENSG00000272849	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537967321	chr12:122282224-122282225	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs12299502	chr12:122282226-122282227	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539250239	chr12:122282265-122282266	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs551164683	chr12:122282270-122282271	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs182102190	chr12:122282351-122282352	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536928257	chr12:122282375-122282376	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185994398	chr12:122282376-122282377	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs191239918	chr12:122282392-122282393	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs182989392	chr12:122282409-122282410	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552805015	chr12:122282452-122282453	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs538273569	chr12:122282515-122282516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144241592	chr12:122282516-122282517	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs544826908	chr12:122282587-122282588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28711529	chr12:122282603-122282604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200446497	chr12:122282628-122282629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188430910	chr12:122282643-122282644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192091177	chr12:122282662-122282663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183125142	chr12:122282674-122282675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187782865	chr12:122282695-122282696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528484028	chr12:122282704-122282705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538030423	chr12:122282709-122282710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145208338	chr12:122282744-122282745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146863398	chr12:122282802-122282803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200883611	chr12:122282808-122282809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149129758	chr12:122282870-122282871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192565722	chr12:122282904-122282905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184275205	chr12:122282907-122282908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12372468	chr12:122282922-122282923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369009393	chr12:122282945-122282946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189173491	chr12:122282960-122282961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143204806	chr12:122282970-122282971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74832267	chr12:122282971-122282972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146463958	chr12:122283001-122283002	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192805067	chr12:122283016-122283017	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548606042	chr12:122283025-122283026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184694235	chr12:122283120-122283121	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534340047	chr12:122283174-122283175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552908058	chr12:122283187-122283188	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571037595	chr12:122283224-122283225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377580246	chr12:122283225-122283226	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538330910	chr12:122283231-122283232	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556780219	chr12:122283233-122283234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189963615	chr12:122283241-122283242	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181451215	chr12:122283269-122283270	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554583936	chr12:122283273-122283274	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553313357	chr12:122283278-122283279	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540294470	chr12:122283285-122283286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185937663	chr12:122283288-122283289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532692818	chr12:122283298-122283299	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544712363	chr12:122283305-122283306	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122294000	Weak transcription	Spleen	Spleen
2	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122278400-122283600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:122278400-122293000	Weak transcription	GM12878-XiMat	blood
5	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
6	chr12:122278600-122283600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:122278800-122283000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:122278800-122283400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:122278800-122283600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:122278800-122283800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:122278800-122287200	Weak transcription	Primary B cells from cord blood	blood
12	chr12:122281400-122292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:122281800-122284800	Weak transcription	Placenta	Placenta
14	chr12:122281800-122286400	Weak transcription	HepG2	liver
15	chr12:122281800-122288600	Strong transcription	Liver	Liver
16	chr12:122282000-122287800	Weak transcription	K562	blood
17	chr12:122283000-122284200	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:122283400-122286000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:122283600-122284000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:122283600-122284000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr12:122283600-122284200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:122283800-122284000	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:122283800-122284000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:122283800-122284200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:122284000-122286600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:122284000-122287200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:122284200-122287800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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