Variant report

Variant	esv3341709
Chromosome Location	chr4:111004303-111006876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111006788..111007371-chr4:111132565..111133207,2	MCF-7	breast:

Extended variants
information (count: 205 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:205 , 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	rs201212318	chr4:111004306-111004307	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183013881	chr4:111004316-111004317	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530450593	chr4:111004328-111004329	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188088981	chr4:111004388-111004389	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11726901	chr4:111004447-111004448	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76145164	chr4:111004456-111004457	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79936494	chr4:111004480-111004481	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566246122	chr4:111004521-111004522	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79091785	chr4:111004527-111004528	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11726880	chr4:111004545-111004546	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538753561	chr4:111004546-111004547	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547388448	chr4:111004589-111004590	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199852527	chr4:111004591-111004592	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556894759	chr4:111004604-111004605	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573599357	chr4:111004617-111004618	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148547662	chr4:111004622-111004623	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537711978	chr4:111004658-111004659	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1003908	chr4:111004666-111004667	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs72676992	chr4:111004754-111004755	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76998948	chr4:111004768-111004769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139037821	chr4:111004826-111004827	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530587798	chr4:111004846-111004847	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369299206	chr4:111004866-111004867	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550310105	chr4:111004867-111004868	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75778350	chr4:111004887-111004888	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11946777	chr4:111004898-111004899	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549735209	chr4:111004904-111004905	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17041360	chr4:111004928-111004929	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs55704816	chr4:111004946-111004947	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200266404	chr4:111004984-111004985	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184514406	chr4:111005026-111005027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574320979	chr4:111005029-111005030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532769101	chr4:111005050-111005051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189040571	chr4:111005066-111005067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537504302	chr4:111005069-111005070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374428312	chr4:111005088-111005089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556956060	chr4:111005091-111005092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567285529	chr4:111005094-111005095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538030502	chr4:111005095-111005096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576724256	chr4:111005096-111005097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377000191	chr4:111005099-111005100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369651127	chr4:111005100-111005101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373492370	chr4:111005102-111005103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs33957666	chr4:111005103-111005104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115859575	chr4:111005105-111005106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376865801	chr4:111005106-111005107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112665850	chr4:111005107-111005108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148130396	chr4:111005108-111005109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369129041	chr4:111005114-111005115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372719759	chr4:111005115-111005116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:110981400-111006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:110984000-111006200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:110985600-111006000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:110986200-111009400	Weak transcription	NHLF	lung
7	chr4:110986800-111006000	Weak transcription	HepG2	liver
8	chr4:110990400-111006400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:110991800-111008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:110992400-111010000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
12	chr4:110994800-111006000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:110995200-111008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:110996400-111006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:110998000-111006000	Weak transcription	K562	blood
17	chr4:110998200-111007800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:111003400-111006000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:111004000-111004400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:111004000-111004400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:111004000-111004600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:111004000-111004800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:111004000-111004800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:111004000-111004800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:111004000-111005000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:111004200-111004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:111004200-111004400	Weak transcription	Brain Germinal Matrix	brain
28	chr4:111004200-111004600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:111004200-111004600	ZNF genes & repeats	Dnd41	blood
30	chr4:111004200-111004800	Strong transcription	NHEK	skin
31	chr4:111004200-111005000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:111004400-111004600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:111004400-111004600	Enhancers	Brain Germinal Matrix	brain
34	chr4:111004400-111004600	Enhancers	Esophagus	oesophagus
35	chr4:111004400-111004600	Enhancers	Small Intestine	intestine
36	chr4:111004400-111009600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:111004400-111009600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:111004600-111005800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:111004600-111006000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:111004600-111006000	Weak transcription	Small Intestine	intestine
41	chr4:111004600-111006000	Weak transcription	Dnd41	blood
42	chr4:111004600-111007000	Weak transcription	Brain Germinal Matrix	brain
43	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
45	chr4:111004800-111006000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr4:111004800-111006000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:111004800-111006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:111004800-111006200	Weak transcription	NHEK	skin
49	chr4:111004800-111009800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:111005000-111005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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