Variant report

Variant	esv3443485
Chromosome Location	chr4:79300628-79303526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANXA3-3	chr4:79300351-79300668	NONHSAT097065

Extended variants
information (count: 123 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386420634	chr4:79300646-79300647	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs11098164	chr4:79300656-79300657	Weak transcription Strong transcription Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563932206	chr4:79300718-79300719	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532944963	chr4:79300794-79300795	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78519982	chr4:79300817-79300818	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77641558	chr4:79300841-79300842	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs371289018	chr4:79300870-79300871	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375057465	chr4:79300892-79300893	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35774552	chr4:79300899-79300900	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78614407	chr4:79300937-79300938	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12512164	chr4:79300993-79300994	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs73828000	chr4:79300996-79300997	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182649427	chr4:79301008-79301009	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144643930	chr4:79301020-79301021	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs369620555	chr4:79301067-79301068	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373504897	chr4:79301086-79301087	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs376836345	chr4:79301087-79301088	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116378993	chr4:79301101-79301102	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201879164	chr4:79301103-79301104	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548358301	chr4:79301109-79301110	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376239159	chr4:79301124-79301125	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs369980679	chr4:79301128-79301129	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568311781	chr4:79301183-79301184	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs534031580	chr4:79301191-79301192	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs374464713	chr4:79301208-79301209	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs547423108	chr4:79301285-79301286	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs139655532	chr4:79301333-79301334	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs539559056	chr4:79301368-79301369	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs556012940	chr4:79301394-79301395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs201877324	chr4:79301416-79301417	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs17003172	chr4:79301435-79301436	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187752697	chr4:79301483-79301484	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs1471751	chr4:79301488-79301489	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572416498	chr4:79301492-79301493	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs5859619	chr4:79301497-79301498	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs192909991	chr4:79301498-79301499	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs3086799	chr4:79301499-79301500	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs112324584	chr4:79301513-79301514	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs147193257	chr4:79301520-79301521	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368288255	chr4:79301593-79301594	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs374859915	chr4:79301602-79301603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1471750	chr4:79301614-79301615	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs568594390	chr4:79301654-79301655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372394992	chr4:79301693-79301694	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386676410	chr4:79301699-79301700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs386676411	chr4:79301700-79301701	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12509739	chr4:79301702-79301703	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs923016	chr4:79301748-79301749	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547683237	chr4:79301753-79301754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570737067	chr4:79301778-79301779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
2	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
3	chr4:79288000-79318400	Weak transcription	Pancreas	Pancrea
4	chr4:79290200-79310800	Weak transcription	Brain Anterior Caudate	brain
5	chr4:79291200-79308400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:79291200-79314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:79291800-79301400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:79291800-79306400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:79291800-79307200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:79291800-79318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:79292000-79312000	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr4:79292200-79301000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:79292200-79306600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:79292200-79308400	Weak transcription	Fetal Lung	lung
15	chr4:79292200-79312200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:79292400-79310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:79292400-79312000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:79292600-79301200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:79294000-79300800	Weak transcription	Fetal Heart	heart
20	chr4:79295400-79300800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:79295400-79301800	Weak transcription	Psoas Muscle	Psoas
22	chr4:79295600-79338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:79297000-79301200	Weak transcription	Fetal Intestine Large	intestine
24	chr4:79297600-79300800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:79297600-79301800	Weak transcription	Fetal Kidney	kidney
26	chr4:79297600-79310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:79298000-79308000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:79298200-79300800	Weak transcription	Fetal Intestine Small	intestine
29	chr4:79299400-79302000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:79299400-79308600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:79299800-79301000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:79300000-79300800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:79300200-79300800	Strong transcription	HSMMtube	muscle
34	chr4:79300200-79301200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:79300200-79301200	Enhancers	NHDF-Ad	bronchial
36	chr4:79300200-79302000	Enhancers	NHEK	skin
37	chr4:79300200-79302400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:79300200-79302400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:79300200-79302400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:79300400-79300800	Enhancers	Duodenum Mucosa	Duodenum
41	chr4:79300400-79301200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:79300400-79301800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:79300400-79302200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:79300400-79302400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:79300400-79302400	Enhancers	HMEC	breast
46	chr4:79300400-79303000	Strong transcription	HepG2	liver
47	chr4:79300600-79301000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr4:79300600-79302200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr4:79300800-79301000	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr4:79300800-79301200	Active TSS	Rectal Mucosa Donor 29	rectum

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