Variant report

Variant	esv1003716
Chromosome Location	chr5:127408188-127408916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127406642..127408516-chr5:127409613..127411185,2	MCF-7	breast:
2	chr5:127400217..127401910-chr5:127408203..127411062,2	K562	blood:
3	chr5:127371822..127373727-chr5:127406697..127409135,2	K562	blood:
4	chr5:127404446..127408379-chr5:127410147..127413224,3	MCF-7	breast:
5	chr5:127408566..127411442-chr5:127412168..127414357,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556286846	chr5:127408235-127408236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187150604	chr5:127408241-127408242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535764472	chr5:127408248-127408249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189522811	chr5:127408278-127408279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11747311	chr5:127408290-127408291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181109485	chr5:127408316-127408317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146963105	chr5:127408374-127408375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553495479	chr5:127408403-127408404	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576865353	chr5:127408417-127408418	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150951696	chr5:127408466-127408467	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116078291	chr5:127408513-127408514	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186466938	chr5:127408556-127408557	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542172966	chr5:127408567-127408568	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs190907195	chr5:127408568-127408569	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs376593336	chr5:127408577-127408578	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs182316593	chr5:127408615-127408616	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs186178161	chr5:127408662-127408663	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs140740993	chr5:127408671-127408672	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs6595799	chr5:127408683-127408684	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs533276132	chr5:127408690-127408691	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs7720864	chr5:127408697-127408698	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs191075661	chr5:127408721-127408722	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs6859967	chr5:127408723-127408724	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7700979	chr5:127408726-127408727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs7700844	chr5:127408732-127408733	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535727978	chr5:127408734-127408735	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs555678230	chr5:127408859-127408860	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565929728	chr5:127408873-127408874	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34213601	chr5:127408880-127408881	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117232589	chr5:127408901-127408902	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553042375	chr5:127408911-127408912	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	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:78 , 50 per page) page: 1 2

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	chr5:127391800-127409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:127392200-127414400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:127394200-127418000	Weak transcription	Lung	lung
34	chr5:127394600-127416800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:127396000-127417000	Weak transcription	Ovary	ovary
36	chr5:127396200-127416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:127396400-127408400	Weak transcription	Primary B cells from cord blood	blood
38	chr5:127396400-127413000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:127396400-127414400	Weak transcription	Primary T cells from cord blood	blood
40	chr5:127398200-127416200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:127398400-127409000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:127398400-127414400	Weak transcription	NHDF-Ad	bronchial
43	chr5:127398400-127414600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:127398400-127415800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:127398400-127416200	Weak transcription	HSMMtube	muscle
46	chr5:127398400-127417400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:127398600-127414400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:127398600-127416600	Weak transcription	Osteobl	bone
49	chr5:127399000-127408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:127399000-127408800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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