Variant report

Variant	esv3465860
Chromosome Location	chr4:103213468-103217969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103213406..103215964-chr4:103215969..103217918,2	K562	blood:
2	chr4:103213406..103215964-chr4:103215969..103217918,2	K562	blood:
3	chr4:103216889..103219644-chr4:103225928..103228584,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141684352	chr4:103213507-103213508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150525490	chr4:103213511-103213512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180771267	chr4:103213587-103213588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545723021	chr4:103213591-103213592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7655493	chr4:103213671-103213672	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185386006	chr4:103213713-103213714	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543663105	chr4:103213718-103213719	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191151892	chr4:103213747-103213748	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374360920	chr4:103213753-103213754	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs183777191	chr4:103213777-103213778	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs139861278	chr4:103213823-103213824	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs559111223	chr4:103213832-103213833	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs17032479	chr4:103213847-103213848	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189235950	chr4:103213850-103213851	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185460598	chr4:103213857-103213858	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs72692226	chr4:103213879-103213880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538164540	chr4:103214045-103214046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550413079	chr4:103214087-103214088	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11733483	chr4:103214099-103214100	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs535876621	chr4:103214146-103214147	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554201584	chr4:103214147-103214148	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551164091	chr4:103214177-103214178	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572621482	chr4:103214201-103214202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539877879	chr4:103214220-103214221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557678506	chr4:103214233-103214234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368519083	chr4:103214277-103214278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576153428	chr4:103214326-103214327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555005153	chr4:103214330-103214331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs440702	chr4:103214388-103214389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191535159	chr4:103214495-103214496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573583654	chr4:103214533-103214534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540666053	chr4:103214555-103214556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1470115	chr4:103214560-103214561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182911247	chr4:103214565-103214566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551413661	chr4:103214582-103214583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564538530	chr4:103214652-103214653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531903848	chr4:103214660-103214661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143216494	chr4:103214673-103214674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568801358	chr4:103214681-103214682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536155918	chr4:103214684-103214685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186835642	chr4:103214711-103214712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191769765	chr4:103214724-103214725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28727491	chr4:103214733-103214734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558204695	chr4:103214743-103214744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1470116	chr4:103214762-103214763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537285501	chr4:103214815-103214816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146176904	chr4:103214936-103214937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79411313	chr4:103214942-103214943	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs540879383	chr4:103214953-103214954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72924870	chr4:103214956-103214957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:78)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103179400-103221000	Weak transcription	K562	blood
2	chr4:103181800-103230400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:103184200-103220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:103186600-103229600	Weak transcription	Pancreas	Pancrea
6	chr4:103186800-103216800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:103187200-103229400	Weak transcription	Fetal Thymus	thymus
8	chr4:103189000-103216800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:103189200-103225400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr4:103189400-103218600	Weak transcription	Placenta	Placenta
11	chr4:103189800-103232400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:103196200-103242400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:103199400-103221000	Weak transcription	Ovary	ovary
14	chr4:103200800-103217600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:103201000-103220000	Weak transcription	GM12878-XiMat	blood
16	chr4:103203600-103226400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:103204000-103228400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:103207600-103221200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:103208200-103220600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:103209800-103221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:103210000-103214000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:103210400-103220000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:103210400-103256800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:103210800-103213800	Strong transcription	Dnd41	blood
25	chr4:103211200-103216600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:103211200-103217800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr4:103211800-103214200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:103212000-103218800	Weak transcription	Primary B cells from cord blood	blood
29	chr4:103212000-103226200	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:103212200-103217600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:103212600-103216400	Weak transcription	Liver	Liver
32	chr4:103212800-103215600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:103212800-103215800	Weak transcription	Hela-S3	cervix
34	chr4:103213000-103215600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:103213000-103217800	Weak transcription	Primary T cells from cord blood	blood
36	chr4:103213600-103214200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
37	chr4:103213800-103216400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:103213800-103216400	Weak transcription	Dnd41	blood
39	chr4:103214000-103216600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:103214200-103215200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:103214200-103224200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:103214400-103214800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:103214800-103217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:103214800-103243200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:103215200-103219600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:103215600-103216200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:103215600-103218000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr4:103215800-103217800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr4:103215800-103220400	Strong transcription	Hela-S3	cervix
50	chr4:103216200-103219200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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