Variant report

Variant	esv34002
Chromosome Location	chr4:7481398-7508494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1570 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1570 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34890488	chr4:7481412-7481413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531246566	chr4:7481415-7481416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs398063234	chr4:7481418-7481419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200357404	chr4:7481419-7481420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7660575	chr4:7481430-7481431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7676849	chr4:7481441-7481442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34027657	chr4:7481445-7481446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13353623	chr4:7481450-7481451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114054571	chr4:7481481-7481482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367883885	chr4:7481520-7481521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113531108	chr4:7481550-7481551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13353636	chr4:7481564-7481565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147839827	chr4:7481578-7481579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578087595	chr4:7481595-7481596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13353773	chr4:7481596-7481597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139784984	chr4:7481599-7481600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186145210	chr4:7481617-7481618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190517904	chr4:7481624-7481625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375420039	chr4:7481656-7481657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534815602	chr4:7481678-7481679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114102042	chr4:7481679-7481680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114982811	chr4:7481691-7481692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149964367	chr4:7481704-7481705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557413078	chr4:7481732-7481733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144992140	chr4:7481736-7481737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183374370	chr4:7481741-7481742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527321767	chr4:7481760-7481761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62277646	chr4:7481775-7481776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541155607	chr4:7481799-7481800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13138627	chr4:7481803-7481804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs71936599	chr4:7481815-7481816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79507095	chr4:7481816-7481817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115925037	chr4:7481818-7481819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13119088	chr4:7481830-7481831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569713126	chr4:7481834-7481835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111322760	chr4:7481854-7481855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187717706	chr4:7481866-7481867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199561637	chr4:7481871-7481872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192794116	chr4:7481883-7481884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56248498	chr4:7481888-7481889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553229808	chr4:7481890-7481891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568535516	chr4:7481908-7481909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62277647	chr4:7481944-7481945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs28645994	chr4:7481952-7481953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182557831	chr4:7481994-7481995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13139074	chr4:7482051-7482052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs115344456	chr4:7482055-7482056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576948480	chr4:7482091-7482092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200835276	chr4:7482100-7482101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541024834	chr4:7482130-7482131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7476000-7482800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:7481200-7481400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:7482800-7483600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7483000-7483600	Active TSS	Gastric	stomach
5	chr4:7483600-7486400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:7484000-7486800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:7485800-7486000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:7486000-7486200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:7486000-7486800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:7486000-7487400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:7486000-7487600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:7486400-7487200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:7486400-7487400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7486400-7488400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:7486600-7486800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:7486600-7487200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:7486800-7487000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:7486800-7487200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:7486800-7487200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:7486800-7487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:7487200-7487400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:7487200-7487600	Enhancers	Fetal Intestine Small	intestine
23	chr4:7487200-7488800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:7487200-7488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:7487400-7487600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:7487400-7488200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:7487400-7488400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:7487600-7488400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:7487600-7489800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:7487800-7490400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:7488000-7488200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:7488000-7490400	Enhancers	Brain Germinal Matrix	brain
33	chr4:7488200-7490200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:7488400-7489200	Bivalent Enhancer	Fetal Stomach	stomach
35	chr4:7488400-7489600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:7488400-7490200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:7488400-7490600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:7488800-7489000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr4:7488800-7489600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:7488800-7489600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr4:7488800-7490000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:7488800-7490000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr4:7488800-7491000	Enhancers	Fetal Brain Male	brain
44	chr4:7489000-7490000	Enhancers	Fetal Brain Female	brain
45	chr4:7489400-7490000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr4:7489600-7489800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:7489600-7490200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:7489800-7490000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr4:7489800-7490400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:7490200-7490400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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