Variant report

Variant	esv3422179
Chromosome Location	chr5:127450653-127456051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127447046..127449842-chr5:127451576..127454099,2	K562	blood:
2	chr5:127418269..127421546-chr5:127449904..127452923,3	MCF-7	breast:
3	chr5:127421269..127422991-chr5:127453839..127456834,2	MCF-7	breast:
4	chr5:127209915..127212381-chr5:127451005..127452800,2	MCF-7	breast:
5	chr5:127419680..127422098-chr5:127455082..127457823,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	chromatin interactions
ENSG00000245937	chromatin interactions

Extended variants
information (count: 211 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:211 , 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	rs189425354	chr5:127450710-127450711	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573024788	chr5:127450724-127450725	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538850057	chr5:127450736-127450737	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558742790	chr5:127450740-127450741	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374251356	chr5:127450748-127450749	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368677392	chr5:127450771-127450772	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs544760409	chr5:127450792-127450793	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76204240	chr5:127450811-127450812	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371197431	chr5:127450936-127450937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs150346797	chr5:127450942-127450943	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540243684	chr5:127450952-127450953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553844517	chr5:127450961-127450962	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs560865177	chr5:127450962-127450963	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs140928109	chr5:127450977-127450978	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192381034	chr5:127451000-127451001	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184925486	chr5:127451009-127451010	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs531778340	chr5:127451047-127451048	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144971726	chr5:127451107-127451108	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs116187635	chr5:127451119-127451120	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529713007	chr5:127451159-127451160	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs142079029	chr5:127451186-127451187	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs566779436	chr5:127451242-127451243	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190119180	chr5:127451246-127451247	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558885720	chr5:127451258-127451259	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs181767386	chr5:127451323-127451324	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145839404	chr5:127451326-127451327	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555074961	chr5:127451349-127451350	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs574812881	chr5:127451350-127451351	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556691404	chr5:127451454-127451455	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540638191	chr5:127451490-127451491	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs138681945	chr5:127451514-127451515	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs142687263	chr5:127451533-127451534	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs546135853	chr5:127451538-127451539	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562826862	chr5:127451558-127451559	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs3805603	chr5:127451581-127451582	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs542028450	chr5:127451589-127451590	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs143412177	chr5:127451593-127451594	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544377255	chr5:127451628-127451629	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs368583198	chr5:127451650-127451651	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529713553	chr5:127451681-127451682	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546577631	chr5:127451690-127451691	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566517871	chr5:127451715-127451716	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11741354	chr5:127451755-127451756	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544092667	chr5:127451858-127451859	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs186437117	chr5:127451913-127451914	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569153937	chr5:127451932-127451933	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs34395412	chr5:127451935-127451936	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs189694446	chr5:127451939-127451940	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540506023	chr5:127451943-127451944	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539880899	chr5:127451953-127451954	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:127423600-127494000	Weak transcription	K562	blood
3	chr5:127432400-127454600	Weak transcription	Fetal Kidney	kidney
4	chr5:127435200-127450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:127437800-127451600	Weak transcription	HMEC	breast
6	chr5:127441200-127536800	Weak transcription	Colonic Mucosa	Colon
7	chr5:127441400-127457400	Weak transcription	Stomach Mucosa	stomach
8	chr5:127441800-127451000	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:127442400-127525000	Weak transcription	Right Ventricle	heart
10	chr5:127443000-127457200	Weak transcription	Pancreas	Pancrea
11	chr5:127443000-127467000	Weak transcription	Esophagus	oesophagus
12	chr5:127443800-127459800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:127444400-127457600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:127445200-127456600	Weak transcription	Spleen	Spleen
15	chr5:127445200-127466800	Weak transcription	Gastric	stomach
16	chr5:127445200-127480200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:127445400-127491800	Weak transcription	Psoas Muscle	Psoas
18	chr5:127445600-127451000	Weak transcription	Small Intestine	intestine
19	chr5:127446000-127451200	Weak transcription	GM12878-XiMat	blood
20	chr5:127447000-127525000	Weak transcription	Fetal Brain Male	brain
21	chr5:127447600-127454800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr5:127447600-127455000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:127447600-127455000	Strong transcription	Fetal Intestine Large	intestine
24	chr5:127447800-127451200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:127447800-127455000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:127447800-127466600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:127448200-127451400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:127448400-127452000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:127448400-127454000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:127448400-127458600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:127448600-127451800	Strong transcription	Brain Anterior Caudate	brain
32	chr5:127448600-127453000	Strong transcription	HUVEC	blood vessel
33	chr5:127448600-127453400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:127448600-127453600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr5:127448600-127454600	Strong transcription	A549	lung
36	chr5:127448800-127451000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:127448800-127453600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:127448800-127454000	Strong transcription	Primary B cells from cord blood	blood
39	chr5:127448800-127455000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:127449000-127452000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:127449000-127452800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:127449000-127453400	Strong transcription	Dnd41	blood
43	chr5:127449000-127455000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:127449000-127455000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:127449000-127457400	Weak transcription	Placenta	Placenta
46	chr5:127449200-127451000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:127449200-127452000	Strong transcription	NHEK	skin
48	chr5:127449200-127454000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:127449200-127454000	Weak transcription	Brain Germinal Matrix	brain
50	chr5:127449200-127454800	Strong transcription	Primary B cells from peripheral blood	blood

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