Variant report

Variant	esv3327891
Chromosome Location	chr4:3304201-3304467
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3302327..3305521-chr4:3308441..3313111,5	MCF-7	breast:
2	chr4:3299078..3301560-chr4:3303600..3305932,2	MCF-7	breast:
3	chr4:3294486..3297470-chr4:3303664..3305673,2	MCF-7	breast:
4	chr4:3294026..3296810-chr4:3301953..3306532,4	MCF-7	breast:
5	chr4:3298898..3300688-chr4:3301683..3304655,2	K562	blood:

Variant related genes	Relation type
ENSG00000159788	chromatin interactions

Extended variants
information (count: 8 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554152462	chr4:3304206-3304207	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs994425	chr4:3304264-3304265	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115007791	chr4:3304308-3304309	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556185517	chr4:3304352-3304353	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576073658	chr4:3304370-3304371	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs542381993	chr4:3304411-3304412	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34067673	chr4:3304412-3304413	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184286650	chr4:3304418-3304419	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3294600-3308800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:3296000-3306000	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:3296600-3318600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:3296800-3306800	Weak transcription	Pancreas	Pancrea
5	chr4:3298800-3306400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:3299200-3310000	Enhancers	HUVEC	blood vessel
7	chr4:3299600-3306200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:3299600-3306200	Weak transcription	NHLF	lung
9	chr4:3299600-3306600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:3299600-3318600	Weak transcription	Aorta	Aorta
11	chr4:3300600-3304400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:3300600-3306200	Enhancers	Brain Germinal Matrix	brain
13	chr4:3300800-3304600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:3300800-3305400	Enhancers	Lung	lung
15	chr4:3300800-3309000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:3301000-3310400	Enhancers	Fetal Muscle Leg	muscle
17	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:3301400-3306200	Weak transcription	Ovary	ovary
19	chr4:3301400-3306400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:3301400-3307000	Weak transcription	Fetal Intestine Large	intestine
21	chr4:3301600-3304800	Enhancers	Stomach Mucosa	stomach
22	chr4:3301600-3305000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:3301600-3306400	Weak transcription	Fetal Kidney	kidney
24	chr4:3301600-3312400	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:3301800-3305200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:3301800-3305200	Enhancers	Gastric	stomach
27	chr4:3301800-3305400	Genic enhancers	Fetal Stomach	stomach
28	chr4:3301800-3306200	Weak transcription	Adipose Nuclei	Adipose
29	chr4:3301800-3306200	Weak transcription	Right Atrium	heart
30	chr4:3302000-3304800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:3302000-3305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:3302000-3306000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr4:3302000-3306200	Weak transcription	Left Ventricle	heart
34	chr4:3302200-3304400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:3302200-3304600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:3302200-3304600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:3302200-3305600	Weak transcription	Brain Angular Gyrus	brain
38	chr4:3302200-3305600	Weak transcription	Fetal Heart	heart
39	chr4:3302200-3306400	Weak transcription	Psoas Muscle	Psoas
40	chr4:3302400-3304400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:3302400-3304800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr4:3302400-3306000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:3302400-3306200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:3302400-3306200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:3302600-3304400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:3302600-3306000	Weak transcription	Fetal Lung	lung
47	chr4:3303000-3305000	Enhancers	HSMM	muscle
48	chr4:3303000-3308000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr4:3303200-3304400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr4:3303200-3304600	Enhancers	Primary B cells from cord blood	blood

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