Variant report

Variant	esv275440
Chromosome Location	chr4:129362619-129369873
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129368721..129371421-chr4:129730817..129733366,2	MCF-7	breast:
2	chr4:129368987..129371381-chr4:129472765..129474766,2	MCF-7	breast:
3	chr4:129369660..129371294-chr4:129729631..129731777,2	K562	blood:

Variant related genes	Relation type
ENSG00000273077	chromatin interactions
ENSG00000077684	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113923835	chr4:129362623-129362624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534601900	chr4:129362624-129362625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537527669	chr4:129362625-129362626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558043727	chr4:129362626-129362627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79214226	chr4:129362627-129362628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374302414	chr4:129362628-129362629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6813114	chr4:129362672-129362673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576617624	chr4:129362684-129362685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536407564	chr4:129362747-129362748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35071564	chr4:129362748-129362749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6813310	chr4:129362781-129362782	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs555468282	chr4:129362811-129362812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574013530	chr4:129362812-129362813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541341905	chr4:129362910-129362911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11726201	chr4:129362972-129362973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs140316541	chr4:129363001-129363002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545207891	chr4:129363061-129363062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563000618	chr4:129363081-129363082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138068237	chr4:129363134-129363135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549100614	chr4:129363160-129363161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560703345	chr4:129363196-129363197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574105572	chr4:129363211-129363212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528115208	chr4:129363216-129363217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548605438	chr4:129363223-129363224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546548881	chr4:129363265-129363266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78009889	chr4:129363270-129363271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538795804	chr4:129363292-129363293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550797202	chr4:129363363-129363364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs207465049	chr4:129363397-129363398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371938500	chr4:129363524-129363525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569115017	chr4:129363529-129363530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568435803	chr4:129363579-129363580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200929918	chr4:129363605-129363606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76753037	chr4:129363608-129363609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537133676	chr4:129363639-129363640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555858287	chr4:129363657-129363658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573926459	chr4:129363691-129363692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535036685	chr4:129363754-129363755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537567616	chr4:129363795-129363796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553213002	chr4:129363828-129363829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182115300	chr4:129363833-129363834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545339134	chr4:129363879-129363880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563529638	chr4:129363905-129363906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575826781	chr4:129363908-129363909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367994602	chr4:129363921-129363922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561059588	chr4:129363955-129363956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371898901	chr4:129363972-129363973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114334446	chr4:129364003-129364004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72677892	chr4:129364019-129364020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs59616560	chr4:129364023-129364024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129358600-129363600	Weak transcription	Gastric	stomach
2	chr4:129361200-129362800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:129361200-129363800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:129362000-129362800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:129362600-129363800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:129362600-129364800	Weak transcription	A549	lung
7	chr4:129362600-129367000	Weak transcription	Pancreas	Pancrea
8	chr4:129362600-129368600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:129362800-129364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:129363200-129372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:129364800-129365000	Strong transcription	A549	lung
12	chr4:129364800-129365200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:129365000-129366000	Weak transcription	A549	lung
14	chr4:129365200-129366800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:129365600-129365800	ZNF genes & repeats	Liver	Liver
16	chr4:129366000-129367000	Enhancers	A549	lung
17	chr4:129366800-129367200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:129366800-129367200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:129366800-129367200	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr4:129367000-129367200	Enhancers	Esophagus	oesophagus
21	chr4:129367000-129367200	ZNF genes & repeats	Pancreas	Pancrea
22	chr4:129367000-129370800	Weak transcription	A549	lung
23	chr4:129367200-129367800	Weak transcription	Pancreas	Pancrea
24	chr4:129367200-129372400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:129367200-129375400	Weak transcription	Fetal Intestine Small	intestine
26	chr4:129367200-129376200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:129368600-129368800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:129368600-129368800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:129368800-129376200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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