Variant report

Variant	esv1814418
Chromosome Location	chr4:9613540-9632851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1356 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1356 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6839392	chr4:9613589-9613590	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558628094	chr4:9613616-9613617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs71649542	chr4:9613641-9613642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188552591	chr4:9613646-9613647	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs113250324	chr4:9613647-9613648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs376141894	chr4:9613651-9613652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs552118478	chr4:9613665-9613666	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs368449455	chr4:9613666-9613667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6811619	chr4:9613669-9613670	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192107764	chr4:9613679-9613680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs574982061	chr4:9613680-9613681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11937931	chr4:9613699-9613700	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184294059	chr4:9613701-9613702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs575861502	chr4:9613718-9613719	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs55934031	chr4:9613756-9613757	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs137952419	chr4:9613766-9613767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs572862631	chr4:9613774-9613775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188588396	chr4:9613788-9613789	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561762008	chr4:9613801-9613802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs180946520	chr4:9613817-9613818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371690380	chr4:9613820-9613821	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113584017	chr4:9613826-9613827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs566078134	chr4:9613841-9613842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562654207	chr4:9613843-9613844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs572692144	chr4:9613853-9613854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs529853165	chr4:9613857-9613858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs551238233	chr4:9613862-9613863	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570545170	chr4:9613955-9613956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114975933	chr4:9613970-9613971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs375252479	chr4:9613974-9613975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546692771	chr4:9613993-9613994	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs369560906	chr4:9614017-9614018	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142205252	chr4:9614018-9614019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557505318	chr4:9614029-9614030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs6845333	chr4:9614058-9614059	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376334098	chr4:9614121-9614122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs369850358	chr4:9614125-9614126	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs184164826	chr4:9614128-9614129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139290005	chr4:9614131-9614132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs4974815	chr4:9614158-9614159	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4974814	chr4:9614162-9614163	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573643699	chr4:9614163-9614164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111651367	chr4:9614169-9614170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527595594	chr4:9614173-9614174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs35387098	chr4:9614180-9614181	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190678827	chr4:9614203-9614204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544097296	chr4:9614211-9614212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181930203	chr4:9614243-9614244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200066576	chr4:9614245-9614246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532966848	chr4:9614282-9614283	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	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
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
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
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9606000-9619400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:9606600-9615000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:9607600-9614200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:9607800-9614200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:9611000-9619600	Weak transcription	Thymus	Thymus
6	chr4:9613200-9613600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:9613400-9613600	Enhancers	Fetal Thymus	thymus
8	chr4:9613600-9616000	Weak transcription	Fetal Thymus	thymus
9	chr4:9615000-9619400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:9619400-9621000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:9619400-9621200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:9619800-9628200	Weak transcription	Ovary	ovary
13	chr4:9624800-9637600	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:9625200-9629400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:9626000-9631000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:9626800-9631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:9627000-9639000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:9627400-9630600	Weak transcription	Fetal Brain Female	brain
19	chr4:9627800-9634400	Weak transcription	Brain Anterior Caudate	brain
20	chr4:9628200-9630400	Strong transcription	Ovary	ovary
21	chr4:9628600-9630800	Weak transcription	Brain Angular Gyrus	brain
22	chr4:9629400-9630000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr4:9630000-9631600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:9630400-9632000	Weak transcription	Ovary	ovary

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