Variant report

Variant	esv3358181
Chromosome Location	chr4:3528112-3528293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3510428..3515439-chr4:3527713..3530558,4	K562	blood:
2	chr4:3518640..3520994-chr4:3527173..3529656,3	MCF-7	breast:
3	chr4:3521183..3522929-chr4:3528082..3530849,2	MCF-7	breast:
4	chr4:3510352..3513783-chr4:3527022..3529504,4	K562	blood:
5	chr4:3496237..3498612-chr4:3527624..3529896,2	K562	blood:
6	chr4:3526212..3528874-chr4:3529916..3531875,2	MCF-7	breast:
7	chr4:3465519..3467686-chr4:3526203..3530625,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268781	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1741545	chr4:3528120-3528121	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537631762	chr4:3528168-3528169	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554470350	chr4:3528182-3528183	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574362002	chr4:3528195-3528196	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs762870	chr4:3528200-3528201	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs549840463	chr4:3528227-3528228	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576869350	chr4:3528241-3528242	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545931129	chr4:3528242-3528243	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182064089	chr4:3528248-3528249	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73082912	chr4:3528253-3528254	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548780335	chr4:3528283-3528284	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145677700	chr4:3528290-3528291	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 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:130 , 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	chr4:3501600-3529000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:3501800-3528800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:3502000-3531600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:3502400-3528400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:3502800-3531800	Strong transcription	Primary T cells from cord blood	blood
11	chr4:3503000-3530400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:3503000-3530600	Strong transcription	Placenta	Placenta
13	chr4:3503000-3531600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:3503200-3531400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr4:3503400-3528800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr4:3503400-3530600	Strong transcription	Liver	Liver
17	chr4:3503600-3529000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr4:3504000-3528200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr4:3504000-3528400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:3504000-3532400	Weak transcription	Hela-S3	cervix
21	chr4:3504200-3532200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:3504800-3528200	Strong transcription	Adipose Nuclei	Adipose
23	chr4:3505000-3532000	Weak transcription	Right Atrium	heart
24	chr4:3506600-3528400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:3506600-3529200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr4:3508600-3532600	Weak transcription	NHDF-Ad	bronchial
27	chr4:3509800-3528200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr4:3510000-3528200	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:3510000-3528400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:3510200-3528600	Strong transcription	Right Ventricle	heart
31	chr4:3510200-3529000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:3510200-3529800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:3510200-3531400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:3510200-3531400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:3510200-3531600	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:3510400-3528800	Strong transcription	Gastric	stomach
37	chr4:3511000-3529000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:3511000-3531800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:3512800-3531600	Weak transcription	Fetal Brain Male	brain
40	chr4:3513400-3528400	Strong transcription	Esophagus	oesophagus
41	chr4:3513400-3530000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr4:3513400-3532600	Weak transcription	Fetal Kidney	kidney
43	chr4:3513600-3528400	Strong transcription	Brain Germinal Matrix	brain
44	chr4:3513600-3530600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr4:3514200-3528400	Strong transcription	Pancreas	Pancrea
46	chr4:3514600-3528400	Strong transcription	Spleen	Spleen
47	chr4:3515000-3531600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr4:3516000-3531200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr4:3516200-3532600	Weak transcription	Psoas Muscle	Psoas
50	chr4:3516800-3528400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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