Variant report

Variant	esv3520427
Chromosome Location	chr5:127406553-127412151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127394903..127397902-chr5:127411158..127414826,3	K562	blood:
2	chr5:127404446..127408379-chr5:127410147..127413224,3	MCF-7	breast:
3	chr5:127410989..127412593-chr5:127415197..127417314,3	K562	blood:
4	chr5:127404446..127408379-chr5:127410147..127413224,3	MCF-7	breast:
5	chr5:127406642..127408516-chr5:127409613..127411185,2	MCF-7	breast:
6	chr5:127400217..127401910-chr5:127408203..127411062,2	K562	blood:
7	chr5:127406296..127408029-chr5:127419300..127420986,2	MCF-7	breast:
8	chr5:127405958..127407674-chr5:127410063..127411683,2	K562	blood:
9	chr5:127406445..127408045-chr5:127418932..127420767,2	K562	blood:
10	chr5:127408566..127411442-chr5:127412168..127414357,2	K562	blood:
11	chr5:127406642..127408516-chr5:127409613..127411185,2	MCF-7	breast:
12	chr5:127405958..127407674-chr5:127410063..127411683,2	K562	blood:
13	chr5:127371822..127373727-chr5:127406697..127409135,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000064651	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184804523	chr5:127406555-127406556	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4835940	chr5:127406596-127406597	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552054606	chr5:127406629-127406630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569060125	chr5:127406650-127406651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543695933	chr5:127406727-127406728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149979982	chr5:127406752-127406753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145136836	chr5:127406889-127406890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199922381	chr5:127406926-127406927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75634698	chr5:127406940-127406941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538333822	chr5:127406989-127406990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544596530	chr5:127406990-127406991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564837247	chr5:127406994-127406995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148690219	chr5:127407001-127407002	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11339801	chr5:127407031-127407032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs398084460	chr5:127407041-127407042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs397703544	chr5:127407042-127407043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577577597	chr5:127407053-127407054	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546496294	chr5:127407083-127407084	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529582772	chr5:127407101-127407102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546637687	chr5:127407106-127407107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189269063	chr5:127407128-127407129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs180944831	chr5:127407133-127407134	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184769555	chr5:127407153-127407154	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372631469	chr5:127407171-127407172	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560697555	chr5:127407183-127407184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112375812	chr5:127407216-127407217	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529745917	chr5:127407227-127407228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189590975	chr5:127407246-127407247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559734201	chr5:127407258-127407259	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560204975	chr5:127407303-127407304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529357481	chr5:127407321-127407322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374278665	chr5:127407343-127407344	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532280340	chr5:127407352-127407353	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552477276	chr5:127407358-127407359	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs548318676	chr5:127407375-127407376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538087695	chr5:127407377-127407378	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548405606	chr5:127407420-127407421	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568525312	chr5:127407454-127407455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs62373700	chr5:127407561-127407562	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534304414	chr5:127407562-127407563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368602276	chr5:127407565-127407566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144469819	chr5:127407569-127407570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577337042	chr5:127407602-127407603	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372246964	chr5:127407608-127407609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556858464	chr5:127407621-127407622	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs77089724	chr5:127407633-127407634	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537316006	chr5:127407672-127407673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542363576	chr5:127407707-127407708	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561957796	chr5:127407764-127407765	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376642282	chr5:127407771-127407772	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
2	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
3	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:127374600-127418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:127375200-127414400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:127376400-127414400	Weak transcription	Dnd41	blood
7	chr5:127377200-127414200	Weak transcription	K562	blood
8	chr5:127378000-127416600	Weak transcription	Spleen	Spleen
9	chr5:127378400-127414200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:127378800-127415800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:127379000-127417400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:127380200-127414600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:127380200-127416200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:127386400-127414400	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:127386600-127417000	Weak transcription	Adipose Nuclei	Adipose
16	chr5:127389000-127409000	Weak transcription	Fetal Intestine Small	intestine
17	chr5:127389200-127409000	Weak transcription	Aorta	Aorta
18	chr5:127389200-127414400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:127389400-127414600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:127389600-127417000	Weak transcription	Fetal Heart	heart
21	chr5:127389800-127416200	Weak transcription	Thymus	Thymus
22	chr5:127390200-127415400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:127390200-127417600	Weak transcription	Psoas Muscle	Psoas
24	chr5:127390400-127414200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:127390400-127416600	Weak transcription	Fetal Stomach	stomach
26	chr5:127390600-127415000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:127391000-127417600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:127391200-127414400	Weak transcription	A549	lung
29	chr5:127391400-127414800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:127391400-127416600	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:127391600-127406600	Weak transcription	GM12878-XiMat	blood
32	chr5:127391600-127407600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:127391800-127409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:127392200-127414400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:127394200-127418000	Weak transcription	Lung	lung
36	chr5:127394600-127416800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:127396000-127417000	Weak transcription	Ovary	ovary
38	chr5:127396200-127416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:127396400-127408400	Weak transcription	Primary B cells from cord blood	blood
40	chr5:127396400-127413000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:127396400-127414400	Weak transcription	Primary T cells from cord blood	blood
42	chr5:127398200-127416200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:127398400-127407800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:127398400-127409000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:127398400-127414400	Weak transcription	NHDF-Ad	bronchial
46	chr5:127398400-127414600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:127398400-127415800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:127398400-127416200	Weak transcription	HSMMtube	muscle
49	chr5:127398400-127417400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:127398600-127414400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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