Variant report

Variant	esv2477910
Chromosome Location	chr5:126157688-126159281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126145438..126148189-chr5:126159181..126160876,2	K562	blood:
2	chr5:126152579..126154703-chr5:126156644..126158568,2	K562	blood:
3	chr5:126158979..126160898-chr5:126165536..126167471,2	MCF-7	breast:
4	chr5:126156930..126159583-chr5:126163283..126166232,2	K562	blood:
5	chr5:126145135..126148189-chr5:126159181..126162252,3	K562	blood:

Variant related genes	Relation type
ENSG00000113368	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 73 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34781275	chr5:126157705-126157706	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75600162	chr5:126157719-126157720	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs79788405	chr5:126157720-126157721	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576372961	chr5:126157730-126157731	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115039617	chr5:126157743-126157744	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139447201	chr5:126157755-126157756	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376800272	chr5:126157769-126157770	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs57812062	chr5:126157795-126157796	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374064208	chr5:126157797-126157798	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186460987	chr5:126157805-126157806	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564591100	chr5:126157929-126157930	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12514703	chr5:126157934-126157935	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12514704	chr5:126157935-126157936	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147431553	chr5:126157991-126157992	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35469974	chr5:126157998-126157999	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561794375	chr5:126158047-126158048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189324214	chr5:126158082-126158083	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140176384	chr5:126158098-126158099	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575226826	chr5:126158115-126158116	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563554174	chr5:126158130-126158131	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs180808199	chr5:126158154-126158155	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549266991	chr5:126158169-126158170	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566078115	chr5:126158198-126158199	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186193720	chr5:126158199-126158200	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1510955	chr5:126158200-126158201	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547110692	chr5:126158359-126158360	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570505186	chr5:126158415-126158416	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539175600	chr5:126158430-126158431	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556355233	chr5:126158434-126158435	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201581321	chr5:126158445-126158446	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190873385	chr5:126158450-126158451	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143847675	chr5:126158455-126158456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111935011	chr5:126158478-126158479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144299299	chr5:126158484-126158485	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555693447	chr5:126158565-126158566	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs202022742	chr5:126158571-126158572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370526843	chr5:126158572-126158573	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572287331	chr5:126158661-126158662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541396612	chr5:126158875-126158876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2973600	chr5:126158917-126158918	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs145788509	chr5:126158967-126158968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543559603	chr5:126159006-126159007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148957193	chr5:126159041-126159042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529442534	chr5:126159089-126159090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377543955	chr5:126159122-126159123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145059642	chr5:126159141-126159142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369270412	chr5:126159148-126159149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562075223	chr5:126159192-126159193	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs183424868	chr5:126159195-126159196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559602452	chr5:126159269-126159270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
small cell lung cancer	20016488	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
Basal cell lymphoma	17053054	CNVD
Breast cancer	16397240	CNVD
Parathyroid adenoma	22454399	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126114600-126161600	Weak transcription	Ovary	ovary
2	chr5:126130400-126165800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:126132200-126161200	Weak transcription	Gastric	stomach
4	chr5:126136000-126175200	Strong transcription	Dnd41	blood
5	chr5:126136400-126162400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:126137600-126166600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:126139800-126160600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:126139800-126175400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:126140000-126162000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:126140000-126162200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:126140000-126175200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126140000-126175400	Strong transcription	Fetal Thymus	thymus
13	chr5:126140200-126161400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:126140200-126161800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:126140200-126162600	Weak transcription	Colonic Mucosa	Colon
16	chr5:126140200-126163400	Weak transcription	Pancreas	Pancrea
17	chr5:126140400-126161200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:126140400-126161800	Weak transcription	Placenta	Placenta
19	chr5:126140400-126162200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:126140600-126161600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:126140800-126161400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:126141000-126159200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:126141000-126177400	Weak transcription	Small Intestine	intestine
24	chr5:126141200-126161400	Weak transcription	Lung	lung
25	chr5:126141200-126181800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:126141400-126174200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:126141600-126162200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:126141600-126167400	Weak transcription	Brain Substantia Nigra	brain
29	chr5:126142600-126161200	Weak transcription	Spleen	Spleen
30	chr5:126144200-126161600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr5:126144400-126173200	Weak transcription	Esophagus	oesophagus
32	chr5:126146000-126183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:126146000-126183600	Weak transcription	Left Ventricle	heart
34	chr5:126147400-126157800	Strong transcription	Fetal Intestine Large	intestine
35	chr5:126147400-126161600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:126147600-126161600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:126147600-126167600	Strong transcription	GM12878-XiMat	blood
38	chr5:126147800-126161400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:126147800-126161800	Weak transcription	Brain Anterior Caudate	brain
40	chr5:126147800-126165600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:126147800-126170400	Weak transcription	Stomach Mucosa	stomach
42	chr5:126147800-126171600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:126148200-126158000	Weak transcription	Fetal Heart	heart
44	chr5:126148200-126161400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr5:126148200-126161400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:126148200-126162200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:126148200-126182400	Weak transcription	HSMMtube	muscle
48	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
49	chr5:126149200-126170000	Weak transcription	Aorta	Aorta
50	chr5:126149600-126181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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