Variant report

Variant	nsv975612
Chromosome Location	chr12:120279837-120287876
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	chr12:120274242..120277869-chr12:120277898..120281203,3	K562	blood:

Extended variants
information (count: 292 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34177652	chr12:120279853-120279854	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117536904	chr12:120279908-120279909	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184614303	chr12:120279932-120279933	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189789610	chr12:120279933-120279934	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533480521	chr12:120279958-120279959	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368265284	chr12:120279975-120279976	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536635134	chr12:120280027-120280028	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs180984647	chr12:120280031-120280032	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529120886	chr12:120280076-120280077	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549189169	chr12:120280138-120280139	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569208891	chr12:120280139-120280140	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538114784	chr12:120280142-120280143	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34909886	chr12:120280167-120280168	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71454616	chr12:120280188-120280189	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71072571	chr12:120280193-120280194	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58634070	chr12:120280210-120280211	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532675153	chr12:120280217-120280218	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551416603	chr12:120280377-120280378	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183771558	chr12:120280393-120280394	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555120191	chr12:120280420-120280421	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189625499	chr12:120280429-120280430	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553541203	chr12:120280451-120280452	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77181234	chr12:120280461-120280462	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372264676	chr12:120280512-120280513	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573680233	chr12:120280526-120280527	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535694139	chr12:120280533-120280534	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140674500	chr12:120280542-120280543	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575562338	chr12:120280592-120280593	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150446669	chr12:120280595-120280596	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564512506	chr12:120280604-120280605	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577909454	chr12:120280633-120280634	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10774517	chr12:120280652-120280653	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560421883	chr12:120280690-120280691	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529389510	chr12:120280734-120280735	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549225912	chr12:120280735-120280736	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562642824	chr12:120280744-120280745	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138224333	chr12:120280776-120280777	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551662591	chr12:120280813-120280814	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181807845	chr12:120280838-120280839	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533599033	chr12:120280842-120280843	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547363216	chr12:120280853-120280854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149152106	chr12:120280990-120280991	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543649871	chr12:120280996-120280997	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143287655	chr12:120281004-120281005	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575390731	chr12:120281032-120281033	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139073989	chr12:120281146-120281147	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142978469	chr12:120281188-120281189	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578187533	chr12:120281214-120281215	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540302745	chr12:120281273-120281274	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186112553	chr12:120281274-120281275	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Sudden cardiac death	19188705	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	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

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120209400-120293600	Weak transcription	Primary T cells from cord blood	blood
2	chr12:120223000-120314400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:120242600-120293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:120242600-120294400	Weak transcription	Fetal Kidney	kidney
5	chr12:120242800-120287800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:120243200-120288200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:120245600-120285200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:120247200-120285800	Weak transcription	NHLF	lung
9	chr12:120247400-120285800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:120254800-120286400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:120254800-120314600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:120256600-120304000	Weak transcription	Fetal Heart	heart
13	chr12:120259200-120311800	Strong transcription	Dnd41	blood
14	chr12:120260000-120280600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:120260600-120285800	Weak transcription	NH-A	brain
16	chr12:120262200-120281200	Weak transcription	Esophagus	oesophagus
17	chr12:120265200-120301800	Weak transcription	Osteobl	bone
18	chr12:120266400-120289200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:120270400-120314200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:120272000-120303600	Weak transcription	Fetal Lung	lung
21	chr12:120272200-120306800	Weak transcription	HSMM	muscle
22	chr12:120272400-120285400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:120273200-120309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:120273400-120280800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:120274600-120281200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:120274800-120306200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:120275600-120285800	Weak transcription	NHEK	skin
28	chr12:120275600-120288800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:120275800-120288000	Weak transcription	HMEC	breast
30	chr12:120275800-120290400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:120276000-120307000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:120276200-120280000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:120276200-120283200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:120276200-120298600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:120276200-120300600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:120276400-120284800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:120276400-120291600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:120276400-120292000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr12:120276600-120281800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:120276600-120297400	Strong transcription	Thymus	Thymus
41	chr12:120277000-120288400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:120277000-120291200	Strong transcription	Fetal Thymus	thymus
43	chr12:120277000-120307200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:120277000-120314400	Weak transcription	Spleen	Spleen
45	chr12:120277200-120285800	Weak transcription	Hela-S3	cervix
46	chr12:120277200-120314600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr12:120277600-120303800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:120277800-120280800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:120278000-120281400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:120278200-120280800	Weak transcription	Fetal Brain Male	brain

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