Variant report

Variant	esv20206
Chromosome Location	chr3:51344873-51415825
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51306657..51307222-chr3:51348509..51349326,2	MCF-7	breast:
2	chr3:51406871..51409726-chr3:51410883..51412893,2	K562	blood:
3	chr3:51137392..51138131-chr3:51409021..51409632,2	K562	blood:
4	chr3:51406871..51409726-chr3:51410883..51412893,2	K562	blood:
5	chr3:50653038..50654032-chr3:51409127..51409867,2	K562	blood:
6	chr3:51367010..51371078-chr3:51375773..51379297,4	MCF-7	breast:
7	chr3:51376546..51378472-chr3:51379958..51381603,2	MCF-7	breast:
8	chr3:51008599..51009587-chr3:51348291..51349166,3	MCF-7	breast:
9	chr3:51374467..51376671-chr3:51422349..51424687,2	K562	blood:
10	chr3:51373184..51375093-chr3:51377621..51380061,2	K562	blood:
11	chr3:51366945..51369566-chr3:51372155..51374313,2	K562	blood:
12	chr3:51373593..51375810-chr3:51376800..51379121,2	K562	blood:
13	chr3:51348365..51351254-chr3:51421914..51424194,2	MCF-7	breast:
14	chr3:50899718..50900413-chr3:51408583..51409247,2	K562	blood:
15	chr3:51412700..51415238-chr3:51421293..51423152,2	MCF-7	breast:
16	chr3:51392857..51395304-chr3:51397366..51400297,3	MCF-7	breast:
17	chr3:51137383..51138350-chr3:51409536..51410333,3	MCF-7	breast:
18	chr3:51306865..51307450-chr3:51409155..51410064,2	MCF-7	breast:
19	chr3:51008779..51009534-chr3:51409019..51409634,2	MCF-7	breast:
20	chr3:51392857..51395304-chr3:51397366..51400297,3	MCF-7	breast:
21	chr3:51367010..51371078-chr3:51375773..51379297,4	MCF-7	breast:
22	chr3:51396073..51397760-chr3:51426221..51429098,2	MCF-7	breast:
23	chr3:51366945..51369566-chr3:51372155..51374313,2	K562	blood:
24	chr3:51404406..51407257-chr3:51420793..51424022,3	MCF-7	breast:
25	chr3:51008103..51009082-chr3:51409134..51409784,2	K562	blood:
26	chr3:51373184..51375093-chr3:51377621..51380061,2	K562	blood:
27	chr3:51380427..51380927-chr6:12008644..12009428,2	Hela-S3	cervix:
28	chr3:51373593..51375810-chr3:51376800..51379121,2	K562	blood:
29	chr17:8075818..8076808-chr3:51377654..51378460,2	Hela-S3	cervix:
30	chr3:51376546..51378472-chr3:51379958..51381603,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179837	chromatin interactions
ENSG00000095951	chromatin interactions
ENSG00000145050	chromatin interactions

Extended variants
information (count: 2271 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:2271 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181462793	chr3:51344899-51344900	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs541305412	chr3:51344907-51344908	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs148544577	chr3:51344947-51344948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530160025	chr3:51344997-51344998	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs185948721	chr3:51345071-51345072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs34953589	chr3:51345108-51345109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs532046797	chr3:51345122-51345123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs190752896	chr3:51345158-51345159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs552448508	chr3:51345199-51345200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs570512547	chr3:51345227-51345228	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550249625	chr3:51345232-51345233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs35307667	chr3:51345263-51345264	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369777258	chr3:51345264-51345265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs181900061	chr3:51345272-51345273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568132792	chr3:51345283-51345284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs67688346	chr3:51345308-51345309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369627551	chr3:51345310-51345311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs144970073	chr3:51345322-51345323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75020651	chr3:51345330-51345331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs146000718	chr3:51345344-51345345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs139955621	chr3:51345361-51345362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs56020572	chr3:51345400-51345401	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35736811	chr3:51345473-51345474	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554970159	chr3:51345478-51345479	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567104831	chr3:51345487-51345488	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184884652	chr3:51345505-51345506	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541593192	chr3:51345520-51345521	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114184227	chr3:51345583-51345584	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78440903	chr3:51345655-51345656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75112579	chr3:51345667-51345668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200105417	chr3:51345668-51345669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146765625	chr3:51345693-51345694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150658930	chr3:51345696-51345697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534150681	chr3:51345698-51345699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373197048	chr3:51345724-51345725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559071916	chr3:51345856-51345857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577497922	chr3:51345870-51345871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530823065	chr3:51345956-51345957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552330457	chr3:51345987-51345988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564401930	chr3:51346001-51346002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59129045	chr3:51346007-51346008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369239840	chr3:51346016-51346017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556691741	chr3:51346052-51346053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112238924	chr3:51346072-51346073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149891359	chr3:51346075-51346076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568284002	chr3:51346102-51346103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535497149	chr3:51346119-51346120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550707135	chr3:51346125-51346126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574926741	chr3:51346126-51346127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569016406	chr3:51346129-51346130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Septo-optic dysplasia	21572526	CNVD
Squamous cell cancer	20885788	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51315400-51350000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:51339800-51347200	Weak transcription	Brain Germinal Matrix	brain
3	chr3:51340000-51370800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:51341600-51347200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:51341600-51372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:51342000-51348000	Weak transcription	Brain Angular Gyrus	brain
7	chr3:51342200-51347200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:51342200-51349400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:51342200-51352400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:51342200-51353600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:51342200-51355000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:51343600-51345600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:51343800-51354800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:51344200-51347200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:51344200-51371800	Weak transcription	Brain Substantia Nigra	brain
16	chr3:51344400-51345000	ZNF genes & repeats	Fetal Brain Male	brain
17	chr3:51344600-51345000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr3:51344600-51345200	ZNF genes & repeats	Aorta	Aorta
19	chr3:51344600-51345200	ZNF genes & repeats	Fetal Brain Female	brain
20	chr3:51344600-51347400	Weak transcription	Brain Anterior Caudate	brain
21	chr3:51344800-51347000	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:51345000-51353400	Weak transcription	Fetal Brain Male	brain
23	chr3:51345000-51356400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:51345200-51347200	Weak transcription	Fetal Brain Female	brain
25	chr3:51345400-51345600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:51345400-51354800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:51345600-51355400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:51345600-51358000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:51347000-51348000	Strong transcription	Brain Hippocampus Middle	brain
30	chr3:51347200-51347800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:51347200-51348200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr3:51347200-51348400	Strong transcription	Brain Germinal Matrix	brain
33	chr3:51347200-51348400	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr3:51347200-51350800	Strong transcription	Fetal Brain Female	brain
35	chr3:51347400-51348600	Strong transcription	Brain Anterior Caudate	brain
36	chr3:51347800-51352400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:51348000-51349600	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:51348000-51350000	Strong transcription	Brain Angular Gyrus	brain
39	chr3:51348000-51356400	Weak transcription	HSMMtube	muscle
40	chr3:51348200-51350000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr3:51348400-51349200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:51348400-51352200	Weak transcription	Brain Germinal Matrix	brain
43	chr3:51348600-51349400	Weak transcription	Brain Anterior Caudate	brain
44	chr3:51349000-51354200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr3:51349200-51350200	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr3:51349200-51352800	Weak transcription	Left Ventricle	heart
47	chr3:51349400-51351800	Strong transcription	Brain Anterior Caudate	brain
48	chr3:51349400-51353800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr3:51349400-51358600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:51349600-51351800	Strong transcription	Brain Hippocampus Middle	brain

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