Variant report

Variant	esv1183049
Chromosome Location	chr4:3524317-3524385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3491515..3496273-chr4:3521421..3525528,4	MCF-7	breast:
2	chr4:3521585..3525793-chr4:3532083..3534237,4	MCF-7	breast:
3	chr4:3520184..3523164-chr4:3523314..3526505,3	MCF-7	breast:
4	chr4:3516783..3519822-chr4:3520546..3524887,6	K562	blood:
5	chr4:3516564..3519822-chr4:3521615..3524887,4	K562	blood:
6	chr4:3523660..3526641-chr4:3772288..3775138,2	K562	blood:

Variant related genes	Relation type
ENSG00000163956	chromatin interactions
ENSG00000175920	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74822448	chr4:3524317-3524318	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs539809798	chr4:3524318-3524319	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs77657000	chr4:3524319-3524320	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs56322476	chr4:3524326-3524327	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556415624	chr4:3524334-3524335	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs1741546	chr4:3524341-3524342	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs189318283	chr4:3524343-3524344	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs78267021	chr4:3524349-3524350	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs75275725	chr4:3524353-3524354	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
10	rs184979477	chr4:3524360-3524361	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs544097471	chr4:3524368-3524369	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs147185339	chr4:3524369-3524370	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1794419	chr4:3524375-3524376	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1730773	chr4:3524383-3524384	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1730774	chr4:3524385-3524386	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3494200-3533200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:3499200-3529600	Strong transcription	Fetal Stomach	stomach
3	chr4:3500600-3531800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3500600-3532000	Strong transcription	Thymus	Thymus
5	chr4:3501000-3531600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:3501400-3527200	Strong transcription	Ovary	ovary
7	chr4:3501400-3528000	Strong transcription	Dnd41	blood
8	chr4:3501600-3529000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:3501800-3528800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:3502000-3531600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:3502200-3525200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:3502400-3527200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:3502400-3528400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:3502800-3531800	Strong transcription	Primary T cells from cord blood	blood
15	chr4:3503000-3528000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:3503000-3530400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:3503000-3530600	Strong transcription	Placenta	Placenta
18	chr4:3503000-3531600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:3503200-3531400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr4:3503400-3528800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr4:3503400-3530600	Strong transcription	Liver	Liver
22	chr4:3503600-3526800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:3503600-3527800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:3503600-3529000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr4:3504000-3528200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr4:3504000-3528400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:3504000-3532400	Weak transcription	Hela-S3	cervix
28	chr4:3504200-3532200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:3504600-3527400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:3504800-3528200	Strong transcription	Adipose Nuclei	Adipose
31	chr4:3505000-3527200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:3505000-3532000	Weak transcription	Right Atrium	heart
33	chr4:3505600-3527000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:3506600-3527000	Strong transcription	Brain Cingulate Gyrus	brain
35	chr4:3506600-3528400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:3506600-3529200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr4:3506800-3526600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:3506800-3526800	Strong transcription	Fetal Thymus	thymus
39	chr4:3506800-3527200	Strong transcription	Left Ventricle	heart
40	chr4:3507200-3527400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:3508400-3527200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:3508600-3526800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:3508600-3527400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr4:3508600-3532600	Weak transcription	NHDF-Ad	bronchial
45	chr4:3509000-3527000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:3509000-3527800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:3509800-3528200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr4:3510000-3527000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr4:3510000-3527600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:3510000-3528200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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