Variant report

Variant	esv2762456
Chromosome Location	chr4:111006438-111007372
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: 40 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114316897	chr4:111006447-111006448	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186515331	chr4:111006500-111006501	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190243459	chr4:111006509-111006510	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568224875	chr4:111006530-111006531	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145198643	chr4:111006564-111006565	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553857877	chr4:111006607-111006608	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs41390444	chr4:111006612-111006613	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371575448	chr4:111006632-111006633	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113362868	chr4:111006633-111006634	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112907650	chr4:111006643-111006644	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34392886	chr4:111006657-111006658	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112546802	chr4:111006675-111006676	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114990347	chr4:111006699-111006700	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554827764	chr4:111006707-111006708	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559468785	chr4:111006736-111006737	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371582417	chr4:111006739-111006740	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574721019	chr4:111006743-111006744	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540469859	chr4:111006749-111006750	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183056544	chr4:111006756-111006757	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187386773	chr4:111006764-111006765	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77517546	chr4:111006769-111006770	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11943595	chr4:111006785-111006786	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191096397	chr4:111006839-111006840	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547839138	chr4:111006934-111006935	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35068839	chr4:111006958-111006959	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149205051	chr4:111006985-111006986	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568337787	chr4:111007006-111007007	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527527733	chr4:111007045-111007046	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183744737	chr4:111007183-111007184	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373212474	chr4:111007194-111007195	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569653617	chr4:111007282-111007283	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531861670	chr4:111007285-111007286	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188971933	chr4:111007293-111007294	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13134404	chr4:111007299-111007300	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539114552	chr4:111007305-111007306	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78189388	chr4:111007309-111007310	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74861780	chr4:111007310-111007311	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569347462	chr4:111007328-111007329	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556072571	chr4:111007335-111007336	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34415611	chr4:111007345-111007346	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:118 , 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	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:110986200-111009400	Weak transcription	NHLF	lung
4	chr4:110991800-111008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:110992400-111010000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
7	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:110995200-111008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:110998200-111007800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:111004400-111009600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:111004400-111009600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:111004600-111007000	Weak transcription	Brain Germinal Matrix	brain
13	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
15	chr4:111004800-111009800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:111005800-111006600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:111005800-111006800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr4:111005800-111006800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:111005800-111009000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:111006000-111006600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:111006000-111006600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:111006000-111006800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:111006000-111006800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:111006000-111006800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:111006000-111006800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr4:111006000-111006800	Enhancers	Fetal Heart	heart
27	chr4:111006000-111007000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr4:111006000-111007000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr4:111006000-111007000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr4:111006000-111007000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:111006000-111007000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr4:111006000-111007000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr4:111006000-111007000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr4:111006000-111007200	Enhancers	HepG2	liver
35	chr4:111006000-111007400	Genic enhancers	K562	blood
36	chr4:111006000-111007600	Enhancers	Fetal Intestine Large	intestine
37	chr4:111006000-111007800	Enhancers	Stomach Mucosa	stomach
38	chr4:111006000-111008200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr4:111006000-111009600	Enhancers	Fetal Intestine Small	intestine
40	chr4:111006000-111010200	Enhancers	Small Intestine	intestine
41	chr4:111006000-111011400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:111006000-111013200	Enhancers	Dnd41	blood
43	chr4:111006000-111014000	Enhancers	HMEC	breast
44	chr4:111006200-111006600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr4:111006200-111006600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:111006200-111006600	Enhancers	Fetal Lung	lung
47	chr4:111006200-111006600	Enhancers	Fetal Thymus	thymus
48	chr4:111006200-111006600	Enhancers	Right Ventricle	heart
49	chr4:111006200-111006600	Enhancers	GM12878-XiMat	blood
50	chr4:111006200-111006800	Enhancers	Primary B cells from peripheral blood	blood

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