Variant report

Variant	esv3359230
Chromosome Location	chr5:126189278-126191826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126188650..126190173-chr5:126200115..126202238,2	K562	blood:
2	chr5:126187764..126191404-chr5:126191529..126194421,4	K562	blood:
3	chr5:126187172..126189769-chr5:126406554..126408895,2	K562	blood:
4	chr5:126187764..126191404-chr5:126191529..126194421,4	K562	blood:
5	chr5:126188650..126191093-chr5:126200738..126202976,2	K562	blood:
6	chr5:126183182..126187392-chr5:126188791..126191287,4	K562	blood:

Variant related genes	Relation type
ENSG00000164241	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146590345	chr5:126189305-126189306	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534996983	chr5:126189314-126189315	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552136199	chr5:126189343-126189344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552271983	chr5:126189344-126189345	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565700759	chr5:126189350-126189351	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs28506167	chr5:126189381-126189382	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs193297019	chr5:126189393-126189394	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184495084	chr5:126189449-126189450	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576067497	chr5:126189477-126189478	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528513399	chr5:126189504-126189505	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189105809	chr5:126189508-126189509	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555270639	chr5:126189511-126189512	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79183642	chr5:126189548-126189549	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572247066	chr5:126189580-126189581	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7715302	chr5:126189615-126189616	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7735455	chr5:126189643-126189644	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577579100	chr5:126189648-126189649	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369723871	chr5:126189653-126189654	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs369561988	chr5:126189700-126189701	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543419665	chr5:126189716-126189717	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538723851	chr5:126189730-126189731	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373969302	chr5:126189734-126189735	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs527747233	chr5:126189739-126189740	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150195092	chr5:126189776-126189777	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs112643365	chr5:126189779-126189780	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs559675340	chr5:126189782-126189783	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs370528668	chr5:126189784-126189785	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs547817909	chr5:126189808-126189809	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386692183	chr5:126189872-126189873	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202062654	chr5:126189876-126189877	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140993079	chr5:126189891-126189892	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75981049	chr5:126189898-126189899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74589013	chr5:126189899-126189900	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531988158	chr5:126189903-126189904	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62392873	chr5:126189906-126189907	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62392874	chr5:126189908-126189909	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62392875	chr5:126189910-126189911	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530460614	chr5:126189929-126189930	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571985942	chr5:126189931-126189932	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111490553	chr5:126189933-126189934	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189984063	chr5:126189946-126189947	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569682178	chr5:126189959-126189960	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373434347	chr5:126189972-126189973	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558300043	chr5:126189973-126189974	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34948876	chr5:126190013-126190014	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535192439	chr5:126190107-126190108	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555476689	chr5:126190118-126190119	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572129631	chr5:126190149-126190150	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113635886	chr5:126190152-126190153	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10057327	chr5:126190161-126190162	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
2	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126175200-126189400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:126182000-126190800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:126182400-126192600	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:126182600-126193000	Weak transcription	Right Ventricle	heart
8	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:126183800-126193000	Weak transcription	Fetal Lung	lung
10	chr5:126183800-126193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:126184400-126190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:126184400-126193000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:126184400-126193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:126184400-126193600	Weak transcription	Brain Germinal Matrix	brain
15	chr5:126184600-126193000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:126185400-126189400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:126185400-126190800	Weak transcription	Stomach Mucosa	stomach
18	chr5:126186200-126189400	Enhancers	Fetal Brain Male	brain
19	chr5:126186400-126189400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:126186600-126189400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:126186600-126189400	Enhancers	Right Atrium	heart
22	chr5:126186800-126189800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:126187400-126189800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr5:126187400-126189800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:126187600-126192600	Weak transcription	Left Ventricle	heart
26	chr5:126187800-126189400	Enhancers	Primary B cells from cord blood	blood
27	chr5:126187800-126189400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr5:126187800-126190200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:126187800-126192800	Weak transcription	Fetal Heart	heart
30	chr5:126188000-126189400	Enhancers	Fetal Brain Female	brain
31	chr5:126188000-126189800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:126188000-126193400	Weak transcription	Fetal Kidney	kidney
33	chr5:126188200-126189400	Weak transcription	A549	lung
34	chr5:126188200-126190000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:126188200-126190000	Weak transcription	Spleen	Spleen
36	chr5:126188200-126193200	Weak transcription	Brain Anterior Caudate	brain
37	chr5:126188200-126193600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:126188200-126200800	Weak transcription	NHDF-Ad	bronchial
39	chr5:126188200-126203400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:126188400-126190000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:126188400-126190800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:126188400-126190800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:126188400-126190800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr5:126188400-126193000	Weak transcription	Osteobl	bone
45	chr5:126188400-126193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:126188600-126189800	Transcr. at gene 5' and 3'	Thymus	Thymus
47	chr5:126188600-126193200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:126188600-126193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:126188600-126204400	Weak transcription	NH-A	brain
50	chr5:126188800-126189400	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links