Variant report

Variant	esv3437596
Chromosome Location	chr4:56934495-56938693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34684590	chr4:56934504-56934505	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539284876	chr4:56934560-56934561	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552634002	chr4:56934584-56934585	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569301772	chr4:56934614-56934615	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370712837	chr4:56934643-56934644	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563957479	chr4:56934679-56934680	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538338047	chr4:56934683-56934684	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576964034	chr4:56934721-56934722	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554624909	chr4:56934781-56934782	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574899809	chr4:56934846-56934847	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534463932	chr4:56934860-56934861	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367936132	chr4:56934923-56934924	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145666967	chr4:56934949-56934950	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181265091	chr4:56934973-56934974	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370741546	chr4:56935067-56935068	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546120065	chr4:56935072-56935073	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562598805	chr4:56935174-56935175	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28711714	chr4:56935302-56935303	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116506500	chr4:56935328-56935329	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541925266	chr4:56935333-56935334	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145247613	chr4:56935357-56935358	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527318139	chr4:56935386-56935387	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547276940	chr4:56935419-56935420	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576959543	chr4:56935434-56935435	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149176553	chr4:56935446-56935447	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143230516	chr4:56935619-56935620	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs186709413	chr4:56935715-56935716	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569841009	chr4:56935723-56935724	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs74909715	chr4:56935725-56935726	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189139392	chr4:56935744-56935745	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs568442083	chr4:56935772-56935773	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534220150	chr4:56935780-56935781	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs10517367	chr4:56935796-56935797	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs571208055	chr4:56935804-56935805	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148306880	chr4:56935833-56935834	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367817849	chr4:56935843-56935844	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2899053	chr4:56935900-56935901	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs181076819	chr4:56935962-56935963	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575059945	chr4:56935987-56935988	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114303862	chr4:56935994-56935995	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555079859	chr4:56936024-56936025	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35915589	chr4:56936050-56936051	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187000186	chr4:56936054-56936055	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141316880	chr4:56936107-56936108	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554313103	chr4:56936111-56936112	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563744350	chr4:56936125-56936126	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533015555	chr4:56936137-56936138	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543713882	chr4:56936150-56936151	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573716426	chr4:56936191-56936192	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529111778	chr4:56936264-56936265	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56916400-56936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:56917200-56934600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:56922000-56935600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:56922200-56935000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:56922800-56934800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:56923800-56936400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:56923800-56936800	Weak transcription	Fetal Intestine Large	intestine
8	chr4:56926800-56936200	Weak transcription	Fetal Kidney	kidney
9	chr4:56927200-56939800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:56929800-56934800	Weak transcription	Fetal Brain Female	brain
11	chr4:56930000-56935000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:56931200-56943600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:56931800-56934600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:56932800-56934600	Enhancers	Brain Germinal Matrix	brain
15	chr4:56933400-56935400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:56933800-56935000	Enhancers	Placenta	Placenta
17	chr4:56934000-56934600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:56934000-56934800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:56934000-56934800	Enhancers	HepG2	liver
20	chr4:56934000-56935000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr4:56934200-56935400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:56934200-56935600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:56934200-56937600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:56934400-56935200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:56934600-56934800	Weak transcription	Brain Germinal Matrix	brain
26	chr4:56934600-56935200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:56934600-56935800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:56934800-56935400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:56934800-56935800	ZNF genes & repeats	Fetal Stomach	stomach
30	chr4:56934800-56936000	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr4:56934800-56936000	ZNF genes & repeats	Fetal Brain Female	brain
32	chr4:56935000-56935200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr4:56935000-56936200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:56935000-56938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:56935200-56935400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:56935200-56936000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:56935400-56936800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:56935400-56942800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:56935400-56945000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:56935600-56935800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr4:56935800-56942800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:56936000-56936200	Enhancers	K562	blood
43	chr4:56936000-56937400	Weak transcription	Fetal Brain Female	brain
44	chr4:56936000-56943800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:56936200-56936400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr4:56936200-56936400	Flanking Active TSS	K562	blood
47	chr4:56936200-56936800	Enhancers	Placenta	Placenta
48	chr4:56936200-56937200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:56936400-56936800	Enhancers	K562	blood
50	chr4:56936400-56937200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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