Variant report

Variant	esv3404582
Chromosome Location	chr4:69595963-69600161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 202 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:202 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386675603	chr4:69595971-69595972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs364958	chr4:69595972-69595973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs364955	chr4:69595980-69595981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572616850	chr4:69595998-69595999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150521078	chr4:69596002-69596003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370536837	chr4:69596003-69596004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs71671431	chr4:69596040-69596041	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182282919	chr4:69596065-69596066	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs143197675	chr4:69596120-69596121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs115683544	chr4:69596144-69596145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs543879898	chr4:69596204-69596205	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186941511	chr4:69596219-69596220	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577224397	chr4:69596226-69596227	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546289839	chr4:69596257-69596258	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs452237	chr4:69596260-69596261	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558461614	chr4:69596283-69596284	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146742461	chr4:69596326-69596327	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578220655	chr4:69596344-69596345	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs436131	chr4:69596352-69596353	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530421875	chr4:69596359-69596360	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149400891	chr4:69596387-69596388	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550112889	chr4:69596388-69596389	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs451891	chr4:69596404-69596405	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs72651921	chr4:69596414-69596415	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541540425	chr4:69596459-69596460	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546698267	chr4:69596460-69596461	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566120859	chr4:69596500-69596501	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535269293	chr4:69596508-69596509	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374908055	chr4:69596519-69596520	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs451735	chr4:69596552-69596553	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs375712987	chr4:69596605-69596606	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375421	chr4:69596611-69596612	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547289370	chr4:69596625-69596626	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557035594	chr4:69596629-69596630	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577186686	chr4:69596669-69596670	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113719192	chr4:69596701-69596702	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559830077	chr4:69596703-69596704	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572690812	chr4:69596723-69596724	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541667665	chr4:69596735-69596736	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570371287	chr4:69596742-69596743	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114991122	chr4:69596746-69596747	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191842439	chr4:69596752-69596753	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550866849	chr4:69596756-69596757	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563899509	chr4:69596770-69596771	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113242106	chr4:69596784-69596785	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549612005	chr4:69596792-69596793	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188675934	chr4:69596796-69596797	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs449661	chr4:69596801-69596802	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566603076	chr4:69596808-69596809	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535229509	chr4:69596818-69596819	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Oral squamous cell carcinoma	17134496	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69590600-69596200	Weak transcription	Pancreas	Pancrea
2	chr4:69590800-69601000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:69591000-69596200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:69596000-69598000	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr4:69596200-69596600	Enhancers	Pancreas	Pancrea
6	chr4:69596200-69596800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:69596200-69599800	Enhancers	HepG2	liver
8	chr4:69596600-69600800	Weak transcription	Pancreas	Pancrea
9	chr4:69597400-69598000	Enhancers	Fetal Intestine Large	intestine
10	chr4:69597800-69598200	Enhancers	Liver	Liver
11	chr4:69598000-69598400	Weak transcription	Fetal Intestine Small	intestine
12	chr4:69598000-69599600	Weak transcription	Fetal Intestine Large	intestine
13	chr4:69598200-69598400	Enhancers	A549	lung
14	chr4:69598200-69598800	Flanking Active TSS	Liver	Liver
15	chr4:69598400-69598600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr4:69598400-69598800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:69598400-69598800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:69598400-69599000	Active TSS	A549	lung
19	chr4:69598400-69599200	Enhancers	Fetal Intestine Small	intestine
20	chr4:69598600-69599000	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr4:69598600-69599200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:69598600-69599200	Enhancers	Fetal Heart	heart
23	chr4:69598600-69599600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:69598800-69599000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:69598800-69599000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:69598800-69599000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr4:69598800-69599200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:69598800-69599200	Enhancers	Liver	Liver
29	chr4:69598800-69599200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr4:69599000-69599800	Enhancers	Fetal Kidney	kidney
31	chr4:69599000-69600000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:69599000-69600000	Active TSS	Duodenum Mucosa	Duodenum
33	chr4:69599000-69600200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:69599000-69600200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr4:69599000-69600600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr4:69599000-69601000	Enhancers	A549	lung
37	chr4:69599000-69603000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr4:69599200-69599600	Flanking Active TSS	Liver	Liver
39	chr4:69599200-69600000	Weak transcription	Fetal Intestine Small	intestine
40	chr4:69599200-69602800	Enhancers	Stomach Mucosa	stomach
41	chr4:69599600-69599800	Enhancers	Liver	Liver
42	chr4:69599600-69600600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:69599600-69600800	Active TSS	Fetal Intestine Large	intestine
44	chr4:69599800-69600200	Flanking Active TSS	Fetal Kidney	kidney
45	chr4:69599800-69600400	Flanking Active TSS	Liver	Liver
46	chr4:69599800-69600800	Flanking Active TSS	HepG2	liver
47	chr4:69599800-69601200	Active TSS	Fetal Stomach	stomach
48	chr4:69600000-69600400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr4:69600000-69600600	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr4:69600000-69602800	Enhancers	Fetal Intestine Small	intestine

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