Variant report

Variant	esv2761730
Chromosome Location	chr12:29206071-29221852
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	chr12:29219445..29221150-chr12:29222821..29224786,2	K562	blood:
2	chr12:29197257..29200417-chr12:29204358..29207773,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAR2-1	chr12:29209092-29209554	XLOC_009696

Extended variants
information (count: 177 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539222947	chr12:29207813-29207814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566525220	chr12:29207832-29207833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547718691	chr12:29207847-29207848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138679640	chr12:29207897-29207898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28544897	chr12:29207925-29207926	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554729142	chr12:29207938-29207939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149434989	chr12:29207973-29207974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555425675	chr12:29208000-29208001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558869529	chr12:29208014-29208015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577102563	chr12:29208036-29208037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541326876	chr12:29208151-29208152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559236065	chr12:29208209-29208210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574595429	chr12:29208214-29208215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7358778	chr12:29208227-29208228	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561077486	chr12:29208287-29208288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531573704	chr12:29208291-29208292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549806917	chr12:29208309-29208310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79112230	chr12:29208398-29208399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371610888	chr12:29209116-29209117	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs374474870	chr12:29209152-29209153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs142093950	chr12:29209169-29209170	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs368935241	chr12:29209172-29209173	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs77880150	chr12:29209238-29209239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs188862726	chr12:29209239-29209240	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs534645681	chr12:29209243-29209244	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs11050009	chr12:29209248-29209249	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs180855274	chr12:29209324-29209325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs535258735	chr12:29209330-29209331	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs199802793	chr12:29209380-29209381	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs556700701	chr12:29209425-29209426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs151147858	chr12:29209430-29209431	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs139009539	chr12:29209435-29209436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs559027007	chr12:29209516-29209517	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs577154193	chr12:29209554-29209555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs568446147	chr12:29217808-29217809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535507807	chr12:29217828-29217829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7966315	chr12:29217831-29217832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569488629	chr12:29217852-29217853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534379659	chr12:29217874-29217875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540136767	chr12:29217875-29217876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557886215	chr12:29217907-29217908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369507406	chr12:29217908-29217909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7979959	chr12:29217909-29217910	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535971828	chr12:29217970-29217971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533610904	chr12:29217977-29217978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555077801	chr12:29217982-29217983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573560347	chr12:29218071-29218072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543918808	chr12:29218106-29218107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188268391	chr12:29218110-29218111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554710019	chr12:29218120-29218121	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29207800-29208400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:29217800-29218200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:29217800-29219800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:29217800-29220600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:29217800-29220800	Enhancers	Brain Hippocampus Middle	brain
6	chr12:29218000-29218600	Enhancers	Brain Angular Gyrus	brain
7	chr12:29218000-29218800	Enhancers	Brain Cingulate Gyrus	brain
8	chr12:29218000-29219000	Enhancers	Brain Anterior Caudate	brain
9	chr12:29218000-29219400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:29218000-29220600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:29218000-29221200	Enhancers	Brain Substantia Nigra	brain
12	chr12:29218200-29218400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:29218200-29218600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:29218200-29218800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr12:29218200-29219200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:29218200-29220200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:29218400-29219000	Enhancers	Brain Germinal Matrix	brain
18	chr12:29218600-29219000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:29218600-29219000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:29218600-29219600	Weak transcription	Brain Angular Gyrus	brain
21	chr12:29218800-29219800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:29218800-29219800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:29219000-29219200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:29219000-29219400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr12:29219000-29219400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr12:29219000-29219400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:29219000-29219400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:29219000-29219400	Weak transcription	Brain Anterior Caudate	brain
29	chr12:29219000-29219400	Enhancers	NH-A	brain
30	chr12:29219000-29219400	Enhancers	NHDF-Ad	bronchial
31	chr12:29219000-29220000	Enhancers	HUVEC	blood vessel
32	chr12:29219000-29222400	Weak transcription	Brain Germinal Matrix	brain
33	chr12:29219200-29219400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr12:29219200-29219800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:29219200-29219800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr12:29219200-29219800	Enhancers	NHEK	skin
37	chr12:29219200-29220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:29219200-29221000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:29219400-29219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:29219400-29221000	Enhancers	Brain Anterior Caudate	brain
41	chr12:29219400-29222400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr12:29219400-29222800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:29219400-29224200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:29219800-29220000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:29219800-29220000	Enhancers	Brain Angular Gyrus	brain
46	chr12:29219800-29220200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr12:29219800-29220200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:29219800-29220800	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:29219800-29223800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:29220000-29222600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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