Variant report

Variant	esv3465868
Chromosome Location	chr4:103785313-103786064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:103785286-103785360	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:103736995..103756245-chr4:103778393..103800311,117	K562	blood:
2	chr4:103757925..103760228-chr4:103782951..103785960,3	K562	blood:
3	chr4:103747316..103751264-chr4:103783852..103786816,4	MCF-7	breast:
4	chr4:103781973..103785521-chr4:103788128..103792048,4	MCF-7	breast:
5	chr4:103741330..103752134-chr4:103778393..103796398,92	K562	blood:
6	chr4:103746438..103750337-chr4:103782400..103786138,6	MCF-7	breast:
7	chr4:103775754..103778384-chr4:103782833..103785617,2	MCF-7	breast:
8	chr4:103776066..103778071-chr4:103784776..103786781,2	K562	blood:
9	chr4:103782734..103784847-chr4:103785870..103787705,2	MCF-7	breast:
10	chr4:103782723..103785636-chr4:103787155..103789919,2	MCF-7	breast:

No data

Variant related genes	Relation type
CISD2	TF binding region
ENSG00000238948	TF binding region
ENSG00000109332	chromatin interactions
ENSG00000145354	chromatin interactions
ENSG00000252739	chromatin interactions
ENSG00000246560	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13147672	chr4:103785327-103785328	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs138618807	chr4:103785335-103785336	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs13120494	chr4:103785372-103785373	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs527956352	chr4:103785388-103785389	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs13121197	chr4:103785438-103785439	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs552627171	chr4:103785448-103785449	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs563156068	chr4:103785508-103785509	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs141630273	chr4:103785524-103785525	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs545692965	chr4:103785547-103785548	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs77202592	chr4:103785582-103785583	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
11	rs59356815	chr4:103785716-103785717	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111386652	chr4:103785739-103785740	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs529457184	chr4:103785749-103785750	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs184656324	chr4:103785764-103785765	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs188580861	chr4:103785791-103785792	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs28731337	chr4:103785845-103785846	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs223339	chr4:103785857-103785858	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs569938324	chr4:103785893-103785894	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs559619052	chr4:103785971-103785972	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs536802464	chr4:103785975-103785976	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs144826051	chr4:103785988-103785989	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs530233091	chr4:103785997-103785998	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs148580424	chr4:103786049-103786050	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540752567	chr4:103786054-103786055	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103750800-103788000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:103765400-103788800	Weak transcription	Left Ventricle	heart
3	chr4:103779000-103787600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:103780000-103788000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:103780200-103789200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:103780400-103788800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:103780800-103788000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:103781000-103788800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:103781000-103789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:103781200-103785800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr4:103781200-103788600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:103781800-103788000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:103781800-103789600	Weak transcription	Fetal Brain Male	brain
14	chr4:103782000-103788000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:103782200-103788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:103782200-103788600	Weak transcription	Fetal Thymus	thymus
17	chr4:103782200-103788800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:103782200-103788800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:103782400-103788800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:103782400-103788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:103782400-103788800	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:103782400-103789200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:103782400-103789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:103782600-103788400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:103782600-103789000	Weak transcription	Fetal Stomach	stomach
26	chr4:103783200-103786600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:103783400-103788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr4:103784000-103785800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:103784000-103788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr4:103784000-103788800	Weak transcription	Primary B cells from cord blood	blood
31	chr4:103784200-103788600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:103784400-103786800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:103784400-103788800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:103784600-103788800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:103784800-103788600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:103785000-103786600	Enhancers	Primary T cells from cord blood	blood
37	chr4:103785200-103785600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:103785200-103786200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:103785200-103787000	Genic enhancers	Dnd41	blood
40	chr4:103785200-103787200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:103785200-103789000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:103785600-103785800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:103785600-103786000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr4:103785600-103788600	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr4:103785600-103788800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr4:103785800-103786000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:103785800-103786000	Enhancers	HepG2	liver
48	chr4:103785800-103786200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr4:103785800-103786400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:103785800-103786600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links