Variant report

Variant	esv6077
Chromosome Location	chr4:49093345-49094288
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377329335	chr4:49093346-49093347	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs62295245	chr4:49093349-49093350	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs189013934	chr4:49093374-49093375	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs62295246	chr4:49093381-49093382	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs201468303	chr4:49093383-49093384	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs370739615	chr4:49093386-49093387	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs62295247	chr4:49093391-49093392	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs374403436	chr4:49093403-49093404	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs12499795	chr4:49093415-49093416	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs201245285	chr4:49093425-49093426	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs181407107	chr4:49093428-49093429	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs199859970	chr4:49093429-49093430	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs371108141	chr4:49093432-49093433	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs374586624	chr4:49093433-49093434	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs578118253	chr4:49093436-49093437	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs200716955	chr4:49093441-49093442	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs201716268	chr4:49093487-49093488	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs371099797	chr4:49093497-49093498	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs200103487	chr4:49093499-49093500	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs62647859	chr4:49093503-49093504	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs62648760	chr4:49093509-49093510	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs545326006	chr4:49093514-49093515	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs143518013	chr4:49093528-49093529	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs62648761	chr4:49093529-49093530	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs62648762	chr4:49093534-49093535	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs186287158	chr4:49093535-49093536	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs62636974	chr4:49093551-49093552	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs199930362	chr4:49093553-49093554	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs62636975	chr4:49093560-49093561	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs151186269	chr4:49093574-49093575	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs62295248	chr4:49093579-49093580	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs372041323	chr4:49093581-49093582	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs377124648	chr4:49093585-49093586	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs563878008	chr4:49093595-49093596	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs62648763	chr4:49093596-49093597	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs374035085	chr4:49093597-49093598	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs530987253	chr4:49093599-49093600	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs62648764	chr4:49093617-49093618	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs377254464	chr4:49093642-49093643	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs369952620	chr4:49093645-49093646	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs201110554	chr4:49093646-49093647	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs373519302	chr4:49093654-49093655	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs62639939	chr4:49093658-49093659	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs200449149	chr4:49093659-49093660	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs141256047	chr4:49093661-49093662	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs141882869	chr4:49093680-49093681	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs201203341	chr4:49093681-49093682	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs372776913	chr4:49093690-49093691	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs111204117	chr4:49093695-49093696	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs12171372	chr4:49093703-49093704	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Cancer	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49093000-49095200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr4:49093200-49093600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
3	chr4:49093200-49093600	ZNF genes & repeats	Right Atrium	heart
4	chr4:49093200-49093600	ZNF genes & repeats	Osteobl	bone
5	chr4:49093200-49094000	ZNF genes & repeats	Hela-S3	cervix
6	chr4:49093200-49094200	Flanking Bivalent TSS/Enh	Gastric	stomach
7	chr4:49093200-49094600	ZNF genes & repeats	HSMMtube	muscle
8	chr4:49093200-49094600	ZNF genes & repeats	NHEK	skin
9	chr4:49093200-49094800	ZNF genes & repeats	HMEC	breast
10	chr4:49093200-49095000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr4:49093200-49095000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
12	chr4:49093200-49095000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr4:49093200-49095000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
14	chr4:49093200-49095000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
15	chr4:49093200-49095000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
16	chr4:49093200-49095000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
17	chr4:49093200-49095000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr4:49093200-49095000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:49093200-49095000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:49093200-49095000	ZNF genes & repeats	Brain Anterior Caudate	brain
21	chr4:49093200-49095000	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr4:49093200-49095000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:49093200-49095000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr4:49093200-49095000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
25	chr4:49093200-49095000	ZNF genes & repeats	Placenta	Placenta
26	chr4:49093200-49095000	ZNF genes & repeats	Fetal Stomach	stomach
27	chr4:49093200-49095000	ZNF genes & repeats	Pancreas	Pancrea
28	chr4:49093200-49095000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
29	chr4:49093200-49095000	ZNF genes & repeats	Small Intestine	intestine
30	chr4:49093200-49095000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
31	chr4:49093200-49095000	ZNF genes & repeats	Dnd41	blood
32	chr4:49093200-49095000	ZNF genes & repeats	HUVEC	blood vessel
33	chr4:49093200-49095000	ZNF genes & repeats	K562	blood
34	chr4:49093200-49095000	ZNF genes & repeats	NHDF-Ad	bronchial
35	chr4:49093200-49095200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:49093200-49095200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:49093200-49095200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:49093200-49095200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:49093200-49095200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr4:49093200-49095200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr4:49093200-49095200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr4:49093200-49095200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr4:49093200-49095200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:49093200-49095200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:49093200-49095200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:49093200-49095200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:49093200-49095200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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