Variant report

Variant	esv2486573
Chromosome Location	chr5:118837315-118838827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr5:118837243-118837866	T-47D	breast:	n/a	chr5:118837476-118837491
2	FOXA1	chr5:118837397-118837742	T-47D	breast:	n/a	chr5:118837476-118837491
3	POLR2A	chr5:118838508-118838610	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:118838395-118838502	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118825394..118827286-chr5:118834797..118837688,2	K562	blood:
2	chr5:118831350..118835449-chr5:118835713..118839843,3	MCF-7	breast:

Variant related genes	Relation type
HSD17B4	TF binding region
ENSG00000133835	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556068403	chr5:118837356-118837357	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs575629740	chr5:118837381-118837382	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs144059507	chr5:118837438-118837439	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs189032891	chr5:118837459-118837460	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs572062488	chr5:118837466-118837467	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73790877	chr5:118837495-118837496	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560704283	chr5:118837579-118837580	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181750711	chr5:118837585-118837586	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs111758000	chr5:118837652-118837653	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs563713386	chr5:118837654-118837655	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs257969	chr5:118837658-118837659	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs34840516	chr5:118837661-118837662	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185291937	chr5:118837671-118837672	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373107613	chr5:118837677-118837678	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs111676146	chr5:118837679-118837680	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs199502857	chr5:118837686-118837687	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529746859	chr5:118837726-118837727	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs34254740	chr5:118837728-118837729	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371585154	chr5:118837742-118837743	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs150536709	chr5:118837763-118837764	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371682983	chr5:118837801-118837802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547608499	chr5:118837812-118837813	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567104008	chr5:118837819-118837820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs460945	chr5:118837833-118837834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377024389	chr5:118837834-118837835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs138961791	chr5:118837892-118837893	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538562783	chr5:118837945-118837946	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558500814	chr5:118837994-118837995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571964647	chr5:118838049-118838050	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189405757	chr5:118838052-118838053	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560864294	chr5:118838053-118838054	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149346720	chr5:118838064-118838065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543199996	chr5:118838067-118838068	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2636968	chr5:118838068-118838069	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs535213612	chr5:118838098-118838099	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532015115	chr5:118838104-118838105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377021719	chr5:118838119-118838120	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551801821	chr5:118838161-118838162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560577022	chr5:118838200-118838201	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs150987924	chr5:118838201-118838202	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144128989	chr5:118838228-118838229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367755719	chr5:118838229-118838230	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs3839244	chr5:118838230-118838231	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565265239	chr5:118838237-118838238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527713876	chr5:118838245-118838246	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs547867953	chr5:118838246-118838247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567461969	chr5:118838281-118838282	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532585044	chr5:118838284-118838285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536356844	chr5:118838307-118838308	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs559170614	chr5:118838436-118838437	Weak transcription ZNF genes & repeats 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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:118794800-118861200	Weak transcription	HSMM	muscle
3	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:118805200-118839400	Weak transcription	NHEK	skin
5	chr5:118806000-118846400	Weak transcription	Esophagus	oesophagus
6	chr5:118806000-118846400	Weak transcription	Spleen	Spleen
7	chr5:118806200-118844800	Weak transcription	Thymus	Thymus
8	chr5:118806200-118846400	Weak transcription	Pancreas	Pancrea
9	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:118806400-118845000	Weak transcription	Fetal Stomach	stomach
11	chr5:118806400-118846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:118806800-118845400	Weak transcription	Fetal Heart	heart
13	chr5:118808000-118839600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:118808000-118839800	Weak transcription	Psoas Muscle	Psoas
15	chr5:118809600-118838000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:118811200-118839600	Weak transcription	Brain Germinal Matrix	brain
17	chr5:118812000-118846400	Weak transcription	NHLF	lung
18	chr5:118814000-118838200	Weak transcription	Fetal Intestine Small	intestine
19	chr5:118814000-118845000	Weak transcription	Gastric	stomach
20	chr5:118814000-118845200	Weak transcription	Aorta	Aorta
21	chr5:118814800-118839400	Weak transcription	Right Ventricle	heart
22	chr5:118814800-118844800	Weak transcription	Lung	lung
23	chr5:118815400-118839000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:118815800-118839000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:118815800-118845400	Weak transcription	HMEC	breast
26	chr5:118816000-118844000	Weak transcription	Hela-S3	cervix
27	chr5:118816000-118847000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:118816800-118837800	Strong transcription	Dnd41	blood
29	chr5:118816800-118839600	Strong transcription	Adipose Nuclei	Adipose
30	chr5:118817000-118837800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:118817000-118846400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:118817200-118839600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:118818400-118839600	Weak transcription	Fetal Kidney	kidney
34	chr5:118819000-118839200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:118819600-118844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:118820000-118839000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:118820000-118839600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:118820200-118838600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:118820200-118846400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:118820400-118838800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr5:118821000-118839600	Strong transcription	Liver	Liver
42	chr5:118821000-118843800	Weak transcription	NHDF-Ad	bronchial
43	chr5:118823800-118837400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr5:118824200-118838400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:118827600-118847800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:118828000-118840400	Weak transcription	Osteobl	bone
47	chr5:118829200-118840200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:118829400-118837800	Strong transcription	Left Ventricle	heart
49	chr5:118829600-118839600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:118829800-118844800	Weak transcription	Rectal Smooth Muscle	rectum

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