Variant report

Variant	esv2755729
Chromosome Location	chr5:75400467-75429015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75422773..75425695-chr5:75433984..75435838,2	K562	blood:
2	chr2:175960283..175962736-chr5:75428852..75431360,2	MCF-7	breast:

Extended variants
information (count: 573 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2134227	chr5:75400467-75400468	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs117767084	chr5:75400483-75400484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550332602	chr5:75400487-75400488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75597187	chr5:75400497-75400498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567237312	chr5:75400500-75400501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs59727044	chr5:75400509-75400510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546870629	chr5:75400550-75400551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566682704	chr5:75400570-75400571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538877942	chr5:75400579-75400580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558785489	chr5:75400621-75400622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183201707	chr5:75400629-75400630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186911161	chr5:75400641-75400642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556376735	chr5:75400650-75400651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554683751	chr5:75400672-75400673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574746994	chr5:75400673-75400674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576484935	chr5:75400682-75400683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540571436	chr5:75400743-75400744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554001972	chr5:75400746-75400747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577108680	chr5:75400753-75400754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191710998	chr5:75400754-75400755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183112622	chr5:75400779-75400780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530553304	chr5:75400821-75400822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564092897	chr5:75400876-75400877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541817736	chr5:75400881-75400882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376230803	chr5:75400903-75400904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529651631	chr5:75400965-75400966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140635931	chr5:75401053-75401054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560477941	chr5:75401089-75401090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532428302	chr5:75401090-75401091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370627895	chr5:75401154-75401155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117451936	chr5:75401167-75401168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569001020	chr5:75401181-75401182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572748040	chr5:75401243-75401244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374351245	chr5:75401269-75401270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568370212	chr5:75401457-75401458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541731587	chr5:75401481-75401482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374256694	chr5:75401495-75401496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76734852	chr5:75401514-75401515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144483804	chr5:75401523-75401524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57276948	chr5:75401526-75401527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6453199	chr5:75401527-75401528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550353455	chr5:75401611-75401612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560180936	chr5:75401665-75401666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187762336	chr5:75401694-75401695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386689176	chr5:75401698-75401699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562406113	chr5:75401700-75401701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192549115	chr5:75401701-75401702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2081076	chr5:75401737-75401738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs561079924	chr5:75401770-75401771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549388540	chr5:75401773-75401774	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75400000-75401800	Enhancers	Stomach Mucosa	stomach
2	chr5:75400200-75401200	Enhancers	Duodenum Mucosa	Duodenum
3	chr5:75401800-75402200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:75401800-75406600	Weak transcription	Stomach Mucosa	stomach
5	chr5:75406600-75409400	Enhancers	Stomach Mucosa	stomach
6	chr5:75407200-75407800	Enhancers	HUVEC	blood vessel
7	chr5:75407400-75407600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:75407600-75407800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:75407600-75407800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:75407800-75409800	Weak transcription	HUVEC	blood vessel
11	chr5:75408200-75408400	Enhancers	Left Ventricle	heart
12	chr5:75408200-75408400	Enhancers	Lung	lung
13	chr5:75408200-75408400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:75408200-75409800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:75408200-75410600	Enhancers	Gastric	stomach
16	chr5:75408400-75409400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:75408400-75409800	Weak transcription	Lung	lung
18	chr5:75408600-75409800	Weak transcription	Left Ventricle	heart
19	chr5:75409200-75409800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr5:75409400-75409800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr5:75409400-75410000	Flanking Active TSS	Stomach Mucosa	stomach
22	chr5:75409400-75411400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:75409400-75412200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:75409600-75410200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:75409600-75410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:75409600-75410600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:75409600-75410600	Enhancers	Duodenum Mucosa	Duodenum
28	chr5:75409800-75410000	Enhancers	Brain Anterior Caudate	brain
29	chr5:75409800-75410000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr5:75409800-75410000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr5:75409800-75410000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr5:75409800-75410200	Enhancers	Adipose Nuclei	Adipose
33	chr5:75409800-75410200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:75409800-75410200	Enhancers	Pancreas	Pancrea
35	chr5:75409800-75410400	Enhancers	Colonic Mucosa	Colon
36	chr5:75409800-75410400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:75409800-75410600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr5:75409800-75410600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:75409800-75410600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:75409800-75410600	Enhancers	Left Ventricle	heart
41	chr5:75409800-75410600	Enhancers	Lung	lung
42	chr5:75409800-75410600	Enhancers	HUVEC	blood vessel
43	chr5:75409800-75411000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:75409800-75411000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr5:75410000-75410200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:75410000-75410200	Enhancers	Stomach Smooth Muscle	stomach
47	chr5:75410000-75410400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:75410000-75410400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr5:75410000-75410400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr5:75410000-75412800	Enhancers	Stomach Mucosa	stomach

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