Variant report

Variant	nsv560500
Chromosome Location	chr12:124393697-124396754
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	chr12:124389629..124391597-chr12:124394347..124396284,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6488910	chr12:124393697-124393698	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541423301	chr12:124393729-124393730	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs371620714	chr12:124393759-124393760	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs375897216	chr12:124393773-124393774	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs142628265	chr12:124393787-124393788	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs560139380	chr12:124393788-124393789	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs200164883	chr12:124393805-124393806	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs199591266	chr12:124393823-124393824	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs201106175	chr12:124393825-124393826	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs550825368	chr12:124393826-124393827	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs61747398	chr12:124393827-124393828	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs191384577	chr12:124393840-124393841	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs531284346	chr12:124393849-124393850	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs571654959	chr12:124393905-124393906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs201747286	chr12:124393917-124393918	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs369490257	chr12:124393958-124393959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs61744221	chr12:124393969-124393970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113752996	chr12:124394003-124394004	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs370468091	chr12:124394004-124394005	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs374826465	chr12:124394008-124394009	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs138609766	chr12:124394029-124394030	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs370970306	chr12:124394039-124394040	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs566976549	chr12:124394066-124394067	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs376716930	chr12:124394115-124394116	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs535987650	chr12:124394119-124394120	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs368701230	chr12:124394159-124394160	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs568804295	chr12:124394167-124394168	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs570306349	chr12:124394184-124394185	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs537530165	chr12:124394207-124394208	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs555535870	chr12:124394223-124394224	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs574080781	chr12:124394228-124394229	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs149301537	chr12:124394368-124394369	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs553345700	chr12:124394391-124394392	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs143587821	chr12:124394425-124394426	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545719451	chr12:124394492-124394493	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557527029	chr12:124394526-124394527	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575873077	chr12:124394552-124394553	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572736859	chr12:124394586-124394587	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112600334	chr12:124394613-124394614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76848180	chr12:124394621-124394622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77244581	chr12:124394622-124394623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138206266	chr12:124394628-124394629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529007715	chr12:124394707-124394708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183219631	chr12:124394715-124394716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559337494	chr12:124394720-124394721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533648016	chr12:124394721-124394722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111367127	chr12:124394727-124394728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552140257	chr12:124394754-124394755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368761366	chr12:124394766-124394767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143792159	chr12:124394828-124394829	Weak transcription Enhancers	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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
2	chr12:124386000-124395800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:124386200-124394000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:124390200-124397600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:124390800-124394400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:124391600-124394000	Enhancers	Placenta	Placenta
7	chr12:124391600-124395000	Enhancers	Fetal Muscle Leg	muscle
8	chr12:124391800-124393800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:124392000-124393800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr12:124392000-124393800	Enhancers	Brain Substantia Nigra	brain
11	chr12:124392000-124394200	Enhancers	Brain Cingulate Gyrus	brain
12	chr12:124392200-124394000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr12:124392200-124394400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr12:124392400-124393800	Weak transcription	Brain Germinal Matrix	brain
15	chr12:124392600-124393800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:124392600-124393800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:124392600-124393800	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:124393000-124397200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:124393200-124394000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:124393200-124398800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:124393400-124396800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:124393800-124394000	Enhancers	Brain Hippocampus Middle	brain
23	chr12:124393800-124394000	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr12:124393800-124394200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr12:124393800-124394400	Enhancers	Brain Anterior Caudate	brain
26	chr12:124393800-124395400	Enhancers	Brain Germinal Matrix	brain
27	chr12:124393800-124418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:124394000-124394200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:124394000-124394200	Enhancers	Brain Substantia Nigra	brain
30	chr12:124394000-124394400	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr12:124394000-124395000	Enhancers	Brain Angular Gyrus	brain
32	chr12:124394200-124394400	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr12:124394200-124394600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr12:124394200-124400200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:124394200-124418400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:124394400-124394600	Active TSS	Brain Hippocampus Middle	brain
37	chr12:124394400-124394600	Enhancers	Brain Substantia Nigra	brain
38	chr12:124394400-124394800	Enhancers	Fetal Muscle Trunk	muscle
39	chr12:124395200-124395600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr12:124395400-124395800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:124395400-124397600	Weak transcription	Brain Germinal Matrix	brain

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