Variant report

Variant	esv3368651
Chromosome Location	chr4:110835039-110835545
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	chr4:110621463..110624410-chr4:110832783..110835223,2	K562	blood:

Variant related genes	Relation type
ENSG00000138794	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11568856	chr4:110835054-110835055	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189053473	chr4:110835176-110835177	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11568857	chr4:110835177-110835178	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13124171	chr4:110835196-110835197	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368398904	chr4:110835198-110835199	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186297633	chr4:110835222-110835223	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560163181	chr4:110835229-110835230	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532467123	chr4:110835264-110835265	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35654533	chr4:110835277-110835278	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs11568858	chr4:110835304-110835305	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568753600	chr4:110835349-110835350	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs3216211	chr4:110835438-110835439	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs34064583	chr4:110835439-110835440	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537546407	chr4:110835444-110835445	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs561937911	chr4:110835447-110835448	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547835017	chr4:110835527-110835528	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs534686357	chr4:110835538-110835539	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110832800-110836200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:110833400-110835600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:110833600-110835200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:110833600-110835400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:110833600-110836000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:110833600-110838000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:110833800-110835800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:110833800-110835800	Active TSS	Right Ventricle	heart
9	chr4:110833800-110836000	Active TSS	Left Ventricle	heart
10	chr4:110833800-110836000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:110833800-110836400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:110833800-110836400	Active TSS	Right Atrium	heart
13	chr4:110833800-110836400	Active TSS	HSMMtube	muscle
14	chr4:110833800-110837600	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr4:110834000-110835400	Active TSS	Fetal Intestine Small	intestine
16	chr4:110834000-110835800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr4:110834000-110837200	Active TSS	Pancreas	Pancrea
18	chr4:110834000-110837400	Active TSS	Psoas Muscle	Psoas
19	chr4:110834000-110838400	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr4:110834200-110835400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:110834200-110835800	Active TSS	Fetal Intestine Large	intestine
22	chr4:110834200-110836600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:110834200-110837000	Active TSS	Fetal Muscle Trunk	muscle
24	chr4:110834200-110837200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:110834400-110835400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:110834400-110844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:110834600-110835400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:110834600-110835600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:110834600-110835800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:110834600-110836400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:110834600-110836400	Weak transcription	A549	lung
32	chr4:110834600-110836600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:110834600-110837200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:110834600-110841800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:110834800-110835200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:110834800-110835200	Enhancers	Primary hematopoietic stem cells	blood
37	chr4:110834800-110835400	Enhancers	K562	blood
38	chr4:110834800-110835600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr4:110834800-110835800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr4:110834800-110835800	Flanking Active TSS	Fetal Heart	heart
41	chr4:110834800-110837400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:110835000-110835200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:110835000-110835200	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:110835000-110835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:110835000-110835600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:110835000-110835600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:110835200-110835400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr4:110835200-110835400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr4:110835200-110835400	Active TSS	Colonic Mucosa	Colon
50	chr4:110835200-110835600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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