Variant report

Variant	esv19186
Chromosome Location	chr5:126195468-126201782
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126196960..126198923-chr5:126200721..126203078,3	K562	blood:
2	chr5:126199073..126201681-chr5:126376638..126378571,2	K562	blood:
3	chr5:126201240..126202876-chr5:126283955..126286881,2	K562	blood:
4	chr5:126188650..126191093-chr5:126200738..126202976,2	K562	blood:
5	chr5:126196679..126200067-chr5:126364654..126368361,4	K562	blood:
6	chr5:126188650..126190173-chr5:126200115..126202238,2	K562	blood:
7	chr5:126201588..126204262-chr5:126365462..126367986,2	K562	blood:
8	chr5:126195407..126197437-chr5:126200003..126202669,2	MCF-7	breast:
9	chr5:126165049..126167558-chr5:126199870..126202749,2	K562	blood:
10	chr5:126196960..126198923-chr5:126200721..126203078,3	K562	blood:
11	chr5:126198494..126201605-chr5:126207767..126211147,4	K562	blood:
12	chr5:126195407..126197437-chr5:126200003..126202669,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173926	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:214 , 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	rs76226389	chr5:126195566-126195567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575882140	chr5:126195575-126195576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144468987	chr5:126195578-126195579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563270951	chr5:126195631-126195632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146128918	chr5:126195768-126195769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80037531	chr5:126195775-126195776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56074301	chr5:126195799-126195800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528233400	chr5:126195827-126195828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551151918	chr5:126195839-126195840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75707494	chr5:126195902-126195903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34322839	chr5:126195909-126195910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554809877	chr5:126195912-126195913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139910452	chr5:126195985-126195986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567616153	chr5:126195991-126195992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111577825	chr5:126196034-126196035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145782453	chr5:126196046-126196047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192689179	chr5:126196063-126196064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185143245	chr5:126196126-126196127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148954140	chr5:126196184-126196185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10051048	chr5:126196217-126196218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7723656	chr5:126196225-126196226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188706350	chr5:126196290-126196291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146792375	chr5:126196294-126196295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58718798	chr5:126196310-126196311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs75168729	chr5:126196322-126196323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147658608	chr5:126196406-126196407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376522252	chr5:126196407-126196408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528169750	chr5:126196507-126196508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369935105	chr5:126196515-126196516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35454854	chr5:126196517-126196518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs60475280	chr5:126196526-126196527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368352841	chr5:126196607-126196608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534866480	chr5:126196640-126196641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530633346	chr5:126196682-126196683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs60046051	chr5:126196690-126196691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192544730	chr5:126196692-126196693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184978221	chr5:126196730-126196731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114958421	chr5:126196747-126196748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547004172	chr5:126196752-126196753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566916043	chr5:126196766-126196767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574297398	chr5:126196780-126196781	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558817038	chr5:126196781-126196782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs57147740	chr5:126196796-126196797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188009078	chr5:126196820-126196821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555207430	chr5:126196836-126196837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58838495	chr5:126197040-126197041	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149257461	chr5:126197123-126197124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552530025	chr5:126197133-126197134	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs572541686	chr5:126197192-126197193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545054614	chr5:126197195-126197196	Weak 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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126188200-126200800	Weak transcription	NHDF-Ad	bronchial
4	chr5:126188200-126203400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:126188600-126204400	Weak transcription	NH-A	brain
6	chr5:126188800-126204600	Weak transcription	NHLF	lung
7	chr5:126189400-126202600	Weak transcription	Right Atrium	heart
8	chr5:126189800-126201000	Weak transcription	A549	lung
9	chr5:126190000-126203800	Weak transcription	Fetal Thymus	thymus
10	chr5:126190400-126204400	Weak transcription	Primary B cells from cord blood	blood
11	chr5:126190800-126203000	Weak transcription	Spleen	Spleen
12	chr5:126191400-126204600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:126191600-126200000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:126191600-126201000	Weak transcription	HUVEC	blood vessel
15	chr5:126191600-126204400	Weak transcription	Primary T cells from cord blood	blood
16	chr5:126191600-126204600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:126191600-126204600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:126193800-126199600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:126193800-126200800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:126194000-126200800	Weak transcription	HSMMtube	muscle
21	chr5:126194200-126200400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:126194200-126204000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:126194200-126204200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:126194200-126204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr5:126194200-126204600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:126194400-126196400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:126194400-126199600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:126194400-126199800	Weak transcription	Thymus	Thymus
29	chr5:126194400-126200800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:126194400-126200800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:126194400-126201000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:126194400-126202800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:126194400-126204000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:126194400-126204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:126194400-126208000	Weak transcription	Right Ventricle	heart
36	chr5:126194600-126199200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:126194600-126199800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:126194600-126199800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:126194600-126202800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:126194600-126204200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:126194600-126204800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:126194800-126199200	Weak transcription	Dnd41	blood
43	chr5:126195000-126195800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:126195800-126196800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:126196400-126196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:126196800-126199000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:126198600-126199200	Enhancers	K562	blood
48	chr5:126198800-126199800	Weak transcription	Fetal Brain Male	brain
49	chr5:126199000-126199200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:126199200-126199400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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