Variant report

Variant	esv275037
Chromosome Location	chr1:193213198-193225083
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193089894..193091755-chr1:193212325..193214360,2	K562	blood:
2	chr1:193216941..193221237-chr1:193223372..193228455,4	K562	blood:
3	chr1:193212028..193214033-chr1:193218505..193221005,2	K562	blood:
4	chr1:193073776..193076125-chr1:193211684..193213561,2	MCF-7	breast:
5	chr1:193224553..193225319-chr1:193307364..193308130,2	MCF-7	breast:
6	chr1:193217879..193219422-chr1:193221732..193224012,2	K562	blood:
7	chr1:193216941..193221237-chr1:193223372..193228455,4	K562	blood:
8	chr1:193133772..193136004-chr1:193215250..193217762,2	K562	blood:
9	chr1:193224128..193229366-chr1:193231563..193237735,7	K562	blood:
10	chr1:193206125..193208911-chr1:193221545..193223577,2	K562	blood:
11	chr1:193217879..193219422-chr1:193221732..193224012,2	K562	blood:
12	chr1:193214812..193216913-chr1:193219574..193221707,2	K562	blood:
13	chr1:193214812..193216913-chr1:193219574..193221707,2	K562	blood:
14	chr1:193212028..193214033-chr1:193218505..193221005,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-5	chr1:193224754-193225611	NONHSAT008565

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	CDC73	hsa-miR-155-5p	chr1:193220093-193220099
2	CDC73	hsa-miR-155-5p	chr1:193220078-193220100

Variant related genes	Relation type
ENSG00000023572	chromatin interactions
ENSG00000134371	chromatin interactions

Extended variants
information (count: 400 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:400 , 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	rs372815358	chr1:193213275-193213276	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs541876443	chr1:193213344-193213345	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376964442	chr1:193213348-193213349	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs562080889	chr1:193213391-193213392	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527550298	chr1:193213400-193213401	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146630820	chr1:193213436-193213437	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34341700	chr1:193213462-193213463	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564267805	chr1:193213482-193213483	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs533138624	chr1:193213547-193213548	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549595914	chr1:193213579-193213580	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569387039	chr1:193213688-193213689	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548758533	chr1:193213694-193213695	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34432661	chr1:193213697-193213698	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548538189	chr1:193213737-193213738	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140195485	chr1:193213757-193213758	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74757074	chr1:193213778-193213779	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548067332	chr1:193213799-193213800	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192910986	chr1:193213807-193213808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184894835	chr1:193213813-193213814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143793036	chr1:193213827-193213828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576571829	chr1:193213867-193213868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375396818	chr1:193213889-193213890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189399558	chr1:193213902-193213903	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs151310304	chr1:193213922-193213923	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140554749	chr1:193213939-193213940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571412000	chr1:193213968-193213969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150416089	chr1:193213981-193213982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145259529	chr1:193214065-193214066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs577884896	chr1:193214070-193214071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550823668	chr1:193214077-193214078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568951650	chr1:193214101-193214102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539545211	chr1:193214102-193214103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs114365210	chr1:193214107-193214108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539026426	chr1:193214117-193214118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548673565	chr1:193214166-193214167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs118067121	chr1:193214178-193214179	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs142325975	chr1:193214211-193214212	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs372688830	chr1:193214239-193214240	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551124644	chr1:193214243-193214244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146436785	chr1:193214284-193214285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138187023	chr1:193214296-193214297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192386090	chr1:193214349-193214350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566861488	chr1:193214371-193214372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185577221	chr1:193214426-193214427	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs114567181	chr1:193214456-193214457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555818888	chr1:193214486-193214487	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189480348	chr1:193214504-193214505	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567931884	chr1:193214506-193214507	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534993368	chr1:193214516-193214517	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79337413	chr1:193214538-193214539	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
2	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
3	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
4	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:193180600-193231200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:193180800-193228200	Weak transcription	Small Intestine	intestine
7	chr1:193181800-193232800	Weak transcription	Colonic Mucosa	Colon
8	chr1:193183400-193216000	Weak transcription	NHEK	skin
9	chr1:193184400-193227600	Weak transcription	HMEC	breast
10	chr1:193185400-193218200	Weak transcription	HepG2	liver
11	chr1:193186200-193216600	Weak transcription	HUVEC	blood vessel
12	chr1:193186600-193216200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:193187000-193216400	Weak transcription	Esophagus	oesophagus
14	chr1:193187000-193216800	Weak transcription	Right Ventricle	heart
15	chr1:193187000-193245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:193191400-193217000	Weak transcription	Brain Anterior Caudate	brain
17	chr1:193191400-193221000	Weak transcription	Brain Substantia Nigra	brain
18	chr1:193191600-193216200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:193191600-193216600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:193191600-193216800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:193192200-193216000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:193192200-193216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:193195600-193216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:193198600-193217000	Weak transcription	A549	lung
25	chr1:193198800-193216000	Weak transcription	GM12878-XiMat	blood
26	chr1:193198800-193216600	Weak transcription	Psoas Muscle	Psoas
27	chr1:193198800-193216600	Weak transcription	NHLF	lung
28	chr1:193201000-193229600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:193202000-193228800	Weak transcription	Brain Angular Gyrus	brain
30	chr1:193202400-193216800	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:193203800-193216000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:193205600-193216000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:193205600-193216000	Weak transcription	Fetal Kidney	kidney
34	chr1:193205600-193216000	Weak transcription	K562	blood
35	chr1:193205600-193216400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:193205600-193216400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:193205600-193216600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:193205600-193216800	Weak transcription	NH-A	brain
39	chr1:193205800-193214400	Weak transcription	Hela-S3	cervix
40	chr1:193205800-193215400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:193205800-193216600	Weak transcription	Placenta	Placenta
42	chr1:193205800-193216800	Weak transcription	NHDF-Ad	bronchial
43	chr1:193205800-193217400	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:193206000-193216000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:193206000-193216000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:193206200-193216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:193207000-193216000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:193207000-193216400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:193207000-193216600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:193207600-193215800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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