Variant report

Variant	nsv557009
Chromosome Location	chr12:2208215-2215725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 363 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6489348	chr12:2208215-2208216	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116844697	chr12:2208255-2208256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561041399	chr12:2208271-2208272	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532940713	chr12:2208274-2208275	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115705382	chr12:2208286-2208287	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs544475243	chr12:2208316-2208317	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549940589	chr12:2208351-2208352	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs2283280	chr12:2208390-2208391	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112193318	chr12:2208425-2208426	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147197930	chr12:2208428-2208429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565705239	chr12:2208519-2208520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs367898902	chr12:2208534-2208535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12580799	chr12:2208537-2208538	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs375591092	chr12:2208566-2208567	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs568535569	chr12:2208575-2208576	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562335978	chr12:2208584-2208585	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113187289	chr12:2208664-2208665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539387139	chr12:2208669-2208670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537188469	chr12:2208670-2208671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557513778	chr12:2208712-2208713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577540884	chr12:2208719-2208720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574679480	chr12:2208884-2208885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542073074	chr12:2208936-2208937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557589775	chr12:2208938-2208939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368974830	chr12:2208957-2208958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546491080	chr12:2208994-2208995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113481186	chr12:2209001-2209002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140560193	chr12:2209015-2209016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149747618	chr12:2209093-2209094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145666448	chr12:2209107-2209108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574460541	chr12:2209113-2209114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543184037	chr12:2209174-2209175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563117775	chr12:2209208-2209209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560176250	chr12:2209245-2209246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552008979	chr12:2209246-2209247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559222718	chr12:2209254-2209255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376922606	chr12:2209265-2209266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528420791	chr12:2209415-2209416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148928102	chr12:2209417-2209418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568394672	chr12:2209483-2209484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142830115	chr12:2209563-2209564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71454853	chr12:2209596-2209597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551115731	chr12:2209605-2209606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552270615	chr12:2209606-2209607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146567350	chr12:2209619-2209620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141310468	chr12:2209620-2209621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs71454854	chr12:2209628-2209629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553650227	chr12:2209640-2209641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573473456	chr12:2209641-2209642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535808093	chr12:2209642-2209643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2196800-2211200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:2202800-2210600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:2202800-2220200	Weak transcription	Fetal Brain Female	brain
4	chr12:2204000-2209200	Weak transcription	NHLF	lung
5	chr12:2204000-2210800	Weak transcription	NHDF-Ad	bronchial
6	chr12:2204600-2210600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:2205000-2209200	Enhancers	Colon Smooth Muscle	Colon
8	chr12:2205200-2210600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:2205200-2210600	Weak transcription	Spleen	Spleen
10	chr12:2205600-2210600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:2206400-2209000	Enhancers	Fetal Heart	heart
12	chr12:2206800-2211600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:2207200-2208400	Enhancers	Brain Hippocampus Middle	brain
14	chr12:2207200-2208400	Enhancers	Brain Substantia Nigra	brain
15	chr12:2207200-2214000	Weak transcription	Lung	lung
16	chr12:2207200-2214200	Weak transcription	Right Atrium	heart
17	chr12:2207200-2223000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:2207600-2208400	Enhancers	Brain Angular Gyrus	brain
19	chr12:2207600-2208800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:2207800-2209200	Enhancers	Left Ventricle	heart
21	chr12:2207800-2209200	Enhancers	Right Ventricle	heart
22	chr12:2208000-2208400	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr12:2208000-2208600	Enhancers	Aorta	Aorta
24	chr12:2208000-2208600	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr12:2208200-2208400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr12:2208200-2208600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:2208200-2209000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr12:2208400-2209000	Weak transcription	Brain Substantia Nigra	brain
29	chr12:2208400-2211800	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:2208400-2226600	Weak transcription	Brain Angular Gyrus	brain
31	chr12:2208600-2209400	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:2208600-2217000	Weak transcription	Aorta	Aorta
33	chr12:2209000-2209200	Enhancers	Brain Substantia Nigra	brain
34	chr12:2209000-2211000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:2209000-2215400	Weak transcription	Fetal Heart	heart
36	chr12:2209200-2210400	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:2209200-2210600	Weak transcription	Left Ventricle	heart
38	chr12:2209200-2213800	Weak transcription	Right Ventricle	heart
39	chr12:2209400-2210400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:2210200-2211800	Enhancers	Osteobl	bone
41	chr12:2210400-2211600	Enhancers	Colon Smooth Muscle	Colon
42	chr12:2210400-2211600	Enhancers	Fetal Intestine Large	intestine
43	chr12:2210400-2211600	Enhancers	Rectal Smooth Muscle	rectum
44	chr12:2210600-2210800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:2210600-2210800	Enhancers	Fetal Intestine Small	intestine
46	chr12:2210600-2211000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:2210600-2211000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:2210600-2211000	Enhancers	Left Ventricle	heart
49	chr12:2210600-2211200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:2210600-2211400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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