Variant report

Variant	nsv518764
Chromosome Location	chr12:120747913-120750517
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120739185..120741546-chr12:120749401..120751491,2	K562	blood:
2	chr12:120727224..120732436-chr12:120750439..120758135,29	K562	blood:
3	chr12:120740153..120743437-chr12:120746658..120748333,3	K562	blood:
4	chr12:120727172..120733111-chr12:120749358..120767260,47	MCF-7	breast:
5	chr12:120739844..120741766-chr12:120747065..120749864,2	MCF-7	breast:
6	chr12:120727824..120729434-chr12:120745972..120748327,2	K562	blood:
7	chr12:120740119..120741853-chr12:120749101..120750607,2	MCF-7	breast:
8	chr12:120743871..120747670-chr12:120748834..120750916,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089163	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000202538	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2522129	chr12:120747913-120747914	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531612444	chr12:120747976-120747977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567107841	chr12:120747986-120747987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188697908	chr12:120747987-120747988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541837248	chr12:120747995-120747996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181182900	chr12:120748001-120748002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs142499658	chr12:120748037-120748038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370781082	chr12:120748062-120748063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561749948	chr12:120748068-120748069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530021798	chr12:120748111-120748112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs527396880	chr12:120748117-120748118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374403432	chr12:120748123-120748124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185097993	chr12:120748125-120748126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370544884	chr12:120748134-120748135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538549300	chr12:120748140-120748141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190631007	chr12:120748181-120748182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565727080	chr12:120748194-120748195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534861856	chr12:120748204-120748205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554343104	chr12:120748210-120748211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376844184	chr12:120748212-120748213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533204229	chr12:120748213-120748214	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574508005	chr12:120748273-120748274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182450194	chr12:120748277-120748278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs145969394	chr12:120748324-120748325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187079315	chr12:120748335-120748336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545728022	chr12:120748356-120748357	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372882512	chr12:120748370-120748371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565620404	chr12:120748371-120748372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139827782	chr12:120748387-120748388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374546493	chr12:120748445-120748446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143149352	chr12:120748471-120748472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530228479	chr12:120748472-120748473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368898620	chr12:120748504-120748505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs367759547	chr12:120748524-120748525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73219313	chr12:120748534-120748535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563276611	chr12:120748546-120748547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563350317	chr12:120748575-120748576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs11065078	chr12:120748585-120748586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548582253	chr12:120748592-120748593	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568186788	chr12:120748625-120748626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534499876	chr12:120748632-120748633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534029278	chr12:120748683-120748684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376856484	chr12:120748684-120748685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568032315	chr12:120748687-120748688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs386766965	chr12:120748740-120748741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113182103	chr12:120748751-120748752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556957402	chr12:120748778-120748779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576901581	chr12:120748795-120748796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs367928109	chr12:120748820-120748821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373902655	chr12:120748843-120748844	Weak transcription	Chromatin interactive region	1 gene(s)	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
Autism	20841430	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120740400-120754600	Weak transcription	Stomach Mucosa	stomach
2	chr12:120740400-120754800	Weak transcription	Spleen	Spleen
3	chr12:120740600-120754600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:120740600-120754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:120741000-120754200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:120741000-120754200	Weak transcription	Placenta	Placenta
7	chr12:120741000-120754400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:120741000-120754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:120741000-120754600	Weak transcription	Primary T cells from cord blood	blood
10	chr12:120741000-120754600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:120741000-120754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:120741000-120754600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:120741000-120754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:120741000-120754600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:120741000-120754600	Weak transcription	Brain Angular Gyrus	brain
16	chr12:120741000-120754600	Weak transcription	Brain Anterior Caudate	brain
17	chr12:120741000-120754600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:120741000-120754600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:120741000-120754600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:120741000-120754600	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:120741000-120754600	Weak transcription	Fetal Heart	heart
22	chr12:120741000-120754600	Weak transcription	Fetal Intestine Small	intestine
23	chr12:120741000-120754600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:120741000-120754600	Weak transcription	Right Ventricle	heart
25	chr12:120741000-120754600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:120741200-120753800	Weak transcription	Liver	Liver
27	chr12:120741200-120754200	Weak transcription	Fetal Brain Female	brain
28	chr12:120741200-120754600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:120741400-120754600	Weak transcription	Brain Germinal Matrix	brain
30	chr12:120741400-120754600	Weak transcription	Thymus	Thymus
31	chr12:120741600-120754000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:120741600-120754200	Weak transcription	Lung	lung
33	chr12:120741600-120754600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:120741800-120754600	Weak transcription	Left Ventricle	heart
35	chr12:120742000-120754600	Weak transcription	Fetal Brain Male	brain
36	chr12:120742000-120754600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:120742200-120748000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:120742200-120754600	Weak transcription	Fetal Stomach	stomach
39	chr12:120742600-120754600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:120742600-120754600	Weak transcription	Fetal Muscle Leg	muscle
41	chr12:120743600-120754600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:120746800-120754600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:120750400-120750600	Enhancers	K562	blood
44	chr12:120750400-120750800	Enhancers	HepG2	liver

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