Variant report

Variant	esv3431474
Chromosome Location	chr4:3343218-3343607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3339354..3341969-chr4:3342389..3344050,2	MCF-7	breast:
2	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:
3	chr4:3341846..3343634-chr4:3447069..3448712,2	MCF-7	breast:
4	chr4:3340754..3343218-chr4:3436055..3438880,2	MCF-7	breast:
5	chr4:3292758..3295748-chr4:3341243..3344299,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175920	chromatin interactions
ENSG00000159788	chromatin interactions
ENSG00000109758	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565785848	chr4:3343231-3343232	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs184271901	chr4:3343255-3343256	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs568324986	chr4:3343257-3343258	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs6839871	chr4:3343264-3343265	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs188804216	chr4:3343286-3343287	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs181265290	chr4:3343298-3343299	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs561616014	chr4:3343299-3343300	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs185276422	chr4:3343300-3343301	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs190812052	chr4:3343321-3343322	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs61324808	chr4:3343391-3343392	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs180889988	chr4:3343395-3343396	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs59211719	chr4:3343415-3343416	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570535633	chr4:3343427-3343428	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs71608276	chr4:3343444-3343445	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs13130998	chr4:3343567-3343568	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369573112	chr4:3343590-3343591	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:3314400-3348200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:3320000-3344000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:3320400-3351800	Weak transcription	Aorta	Aorta
5	chr4:3321000-3347000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:3323600-3344000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:3323600-3344800	Weak transcription	Fetal Intestine Large	intestine
8	chr4:3324000-3343600	Weak transcription	HSMM	muscle
9	chr4:3324200-3343600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:3325600-3348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:3326400-3343600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:3326400-3343600	Weak transcription	NHLF	lung
13	chr4:3326400-3343800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:3326400-3344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:3326400-3348000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:3328400-3343600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:3330200-3343600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:3331000-3343600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr4:3332400-3343800	Weak transcription	Fetal Intestine Small	intestine
20	chr4:3332800-3343600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:3332800-3343600	Weak transcription	Primary T cells from cord blood	blood
22	chr4:3332800-3343600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:3334000-3345800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:3334000-3370600	Weak transcription	Right Atrium	heart
25	chr4:3334400-3343600	Weak transcription	Adipose Nuclei	Adipose
26	chr4:3334600-3343600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:3337000-3344000	Weak transcription	Fetal Kidney	kidney
28	chr4:3337400-3343600	Weak transcription	Ovary	ovary
29	chr4:3337400-3343600	Weak transcription	Right Ventricle	heart
30	chr4:3337600-3343600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:3338200-3343600	Weak transcription	Brain Anterior Caudate	brain
32	chr4:3338400-3343600	Weak transcription	HepG2	liver
33	chr4:3338400-3343800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:3339200-3353200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:3339800-3343600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:3339800-3343600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:3340200-3344000	Enhancers	Brain Germinal Matrix	brain
38	chr4:3340400-3343600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:3340600-3343600	Weak transcription	Placenta	Placenta
40	chr4:3340800-3343600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:3340800-3344000	Enhancers	Fetal Brain Male	brain
42	chr4:3341000-3343600	Weak transcription	HUVEC	blood vessel
43	chr4:3341200-3343600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr4:3341200-3343600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:3342000-3344000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:3342000-3345200	Weak transcription	Gastric	stomach
47	chr4:3342000-3348200	Weak transcription	Brain Angular Gyrus	brain
48	chr4:3342200-3348000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:3342400-3343600	Weak transcription	Fetal Lung	lung
50	chr4:3342600-3343600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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