Variant report

Variant	esv3465892
Chromosome Location	chr4:106707173-106717240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:106707269..106709728-chr4:106711116..106713175,2	MCF-7	breast:
2	chr4:106716229..106719180-chr4:106725111..106727135,2	MCF-7	breast:
3	chr4:106707269..106709728-chr4:106711116..106713175,2	MCF-7	breast:
4	chr4:106700749..106702842-chr4:106706206..106708472,2	K562	blood:

Extended variants
information (count: 306 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149173918	chr4:106707199-106707200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2080788	chr4:106707226-106707227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373616228	chr4:106707283-106707284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72673811	chr4:106707297-106707298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573004370	chr4:106707335-106707336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545033995	chr4:106707363-106707364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558255355	chr4:106707395-106707396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183558246	chr4:106707409-106707410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371474361	chr4:106707422-106707423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187858813	chr4:106707427-106707428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200613682	chr4:106707493-106707494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560936528	chr4:106707592-106707593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377240047	chr4:106707605-106707606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143336660	chr4:106707626-106707627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77692253	chr4:106707628-106707629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560889715	chr4:106707630-106707631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368496095	chr4:106707682-106707683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374244742	chr4:106707689-106707690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192123506	chr4:106707696-106707697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552575915	chr4:106707702-106707703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569136421	chr4:106707736-106707737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531571951	chr4:106707749-106707750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548295183	chr4:106707785-106707786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183439048	chr4:106707788-106707789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533926289	chr4:106707819-106707820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188547028	chr4:106707842-106707843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192733963	chr4:106707864-106707865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538538322	chr4:106707939-106707940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368740824	chr4:106708031-106708032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558549079	chr4:106708045-106708046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147942684	chr4:106708130-106708131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372038650	chr4:106708152-106708153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114356555	chr4:106708185-106708186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376576794	chr4:106708203-106708204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542799035	chr4:106708240-106708241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369526124	chr4:106708246-106708247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183915951	chr4:106708290-106708291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574583056	chr4:106708349-106708350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141809570	chr4:106708377-106708378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546092913	chr4:106708490-106708491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556475582	chr4:106708491-106708492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186744643	chr4:106708552-106708553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532870023	chr4:106708585-106708586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546203816	chr4:106708605-106708606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147116860	chr4:106708666-106708667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191259690	chr4:106708719-106708720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548134202	chr4:106708726-106708727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568259965	chr4:106708755-106708756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11736834	chr4:106708764-106708765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs59903260	chr4:106708778-106708779	Weak transcription	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106688400-106708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:106692400-106729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:106694000-106718200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:106695200-106757000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:106697200-106725800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:106697800-106723200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:106698000-106725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:106698200-106719200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:106701000-106707400	Weak transcription	NHLF	lung
10	chr4:106703200-106755600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:106705600-106713400	Weak transcription	HSMM	muscle
12	chr4:106707000-106707600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:106707600-106707800	Enhancers	Duodenum Mucosa	Duodenum
14	chr4:106710400-106711000	Weak transcription	Left Ventricle	heart
15	chr4:106710600-106710800	Enhancers	Pancreas	Pancrea
16	chr4:106710600-106711000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:106714200-106725800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:106717000-106717200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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