Variant report

Variant	esv1813493
Chromosome Location	chr4:76319495-76323522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:76321013-76321304	HepG2	liver:	n/a	chr4:76321162-76321173 chr4:76321164-76321173 chr4:76321163-76321174
2	CEBPB	chr4:76321118-76321291	K562	blood:	n/a	chr4:76321162-76321173 chr4:76321164-76321173 chr4:76321163-76321174
3	CEBPB	chr4:76319796-76319943	K562	blood:	n/a	n/a
4	CEBPB	chr4:76321079-76321193	A549	lung:	n/a	chr4:76321162-76321173 chr4:76321164-76321173 chr4:76321163-76321174
5	CEBPB	chr4:76321097-76321297	IMR90	lung:	n/a	chr4:76321162-76321173 chr4:76321164-76321173 chr4:76321163-76321174
6	CEBPB	chr4:76319825-76319934	IMR90	lung:	n/a	n/a
7	CTCF	chr4:76321800-76321950	GM12866	blood:	n/a	n/a
8	POLR2A	chr4:76319650-76319751	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RCHY1-6	chr4:76322898-76323124	l_2668_chr4:76322897-76324689_adipose

Variant related genes	Relation type
ENSG00000250735	TF binding region

Extended variants
information (count: 165 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs11938541	chr4:76319495-76319496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142542694	chr4:76319502-76319503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184398263	chr4:76319507-76319508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11941411	chr4:76319535-76319536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559890948	chr4:76319544-76319545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151090774	chr4:76319545-76319546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547273498	chr4:76319598-76319599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555708968	chr4:76319619-76319620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74695647	chr4:76319658-76319659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60769264	chr4:76319679-76319680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201193548	chr4:76319683-76319684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199636658	chr4:76319684-76319685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532723155	chr4:76319731-76319732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550908224	chr4:76319744-76319745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28751938	chr4:76319761-76319762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141029139	chr4:76319798-76319799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564246178	chr4:76319835-76319836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555089227	chr4:76319873-76319874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566517310	chr4:76319925-76319926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188184474	chr4:76319959-76319960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558406256	chr4:76319967-76319968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576745087	chr4:76319978-76319979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544135990	chr4:76319990-76319991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149856674	chr4:76319991-76319992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373611793	chr4:76319998-76319999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577677814	chr4:76320006-76320007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181975184	chr4:76320017-76320018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184763851	chr4:76320044-76320045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560202812	chr4:76320066-76320067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527238394	chr4:76320075-76320076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189095553	chr4:76320089-76320090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545835906	chr4:76320102-76320103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181592676	chr4:76320124-76320125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186513033	chr4:76320127-76320128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551282656	chr4:76320141-76320142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569346107	chr4:76320177-76320178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530355672	chr4:76320179-76320180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562235599	chr4:76320182-76320183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111698542	chr4:76320200-76320201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547848834	chr4:76320209-76320210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566648384	chr4:76320216-76320217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117674091	chr4:76320233-76320234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191366561	chr4:76320259-76320260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552139065	chr4:76320306-76320307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180987505	chr4:76320357-76320358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371775622	chr4:76320360-76320361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141576236	chr4:76320409-76320410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556463938	chr4:76320414-76320415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60519785	chr4:76320439-76320440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535641612	chr4:76320459-76320460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76317200-76321800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:76320800-76321000	Enhancers	HSMMtube	muscle
3	chr4:76321800-76322200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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