Variant report

Variant	esv8766
Chromosome Location	chr4:49093782-49101405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1436 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1436 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62648768	chr4:49093783-49093784	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs62648769	chr4:49093790-49093791	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs13118850	chr4:49093791-49093792	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs199534566	chr4:49093799-49093800	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs371469937	chr4:49093813-49093814	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs200527357	chr4:49093817-49093818	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs201729852	chr4:49093818-49093819	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs367765230	chr4:49093823-49093824	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs80302802	chr4:49093824-49093825	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs62648770	chr4:49093866-49093867	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs145566367	chr4:49093878-49093879	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs199927914	chr4:49093881-49093882	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs200445864	chr4:49093884-49093885	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs111204122	chr4:49093886-49093887	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs370061688	chr4:49093890-49093891	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs200919080	chr4:49093891-49093892	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs201835775	chr4:49093892-49093893	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs13138608	chr4:49093893-49093894	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs141285920	chr4:49093895-49093896	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs200791376	chr4:49093896-49093897	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs373666363	chr4:49093904-49093905	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs200454362	chr4:49093909-49093910	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs62648771	chr4:49093921-49093922	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs199514582	chr4:49093934-49093935	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs375312704	chr4:49093936-49093937	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs368137791	chr4:49093939-49093940	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs200352315	chr4:49093941-49093942	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs201351485	chr4:49093944-49093945	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs62639940	chr4:49093952-49093953	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs376473891	chr4:49093959-49093960	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs191558961	chr4:49093969-49093970	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs370024541	chr4:49093970-49093971	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs200824971	chr4:49093975-49093976	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs201297714	chr4:49094010-49094011	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs199667617	chr4:49094012-49094013	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs371597921	chr4:49094014-49094015	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs201849574	chr4:49094023-49094024	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs11936094	chr4:49094028-49094029	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs11945468	chr4:49094030-49094031	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs182882610	chr4:49094033-49094034	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs200192625	chr4:49094041-49094042	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs71191292	chr4:49094047-49094048	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs28972132	chr4:49094048-49094049	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs28973149	chr4:49094050-49094051	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs13143918	chr4:49094061-49094062	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs71611597	chr4:49094080-49094081	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs71611598	chr4:49094091-49094092	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs373243198	chr4:49094101-49094102	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs200286648	chr4:49094106-49094107	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs118192965	chr4:49094111-49094112	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:299 , 50 per page) page: 1 2 3 4 5 6

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

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