Variant report

Variant	nsv964931
Chromosome Location	chr5:118844538-118845809
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	USF2	chr5:118844893-118845036	K562	blood:	n/a	n/a

Variant related genes	Relation type
HSD17B4	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536193422	chr5:118844601-118844602	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs73249978	chr5:118844607-118844608	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573773863	chr5:118844614-118844615	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs142738949	chr5:118844619-118844620	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs56349852	chr5:118844631-118844632	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556445382	chr5:118844654-118844655	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs35312742	chr5:118844670-118844671	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145018700	chr5:118844671-118844672	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575668141	chr5:118844675-118844676	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558870526	chr5:118844684-118844685	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539890033	chr5:118844689-118844690	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572100239	chr5:118844691-118844692	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs540987699	chr5:118844697-118844698	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs35764784	chr5:118844705-118844706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs72788187	chr5:118844708-118844709	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185840112	chr5:118844753-118844754	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs533909891	chr5:118844806-118844807	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs368061719	chr5:118844833-118844834	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189970200	chr5:118844846-118844847	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372898042	chr5:118844859-118844860	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs137853097	chr5:118844871-118844872	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138860802	chr5:118844904-118844905	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552177197	chr5:118844917-118844918	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201455193	chr5:118844919-118844920	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs372940909	chr5:118844960-118844961	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs181609312	chr5:118844964-118844965	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531132379	chr5:118844968-118844969	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528396973	chr5:118845002-118845003	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs548179361	chr5:118845044-118845045	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76336613	chr5:118845081-118845082	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs32663	chr5:118845089-118845090	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs32664	chr5:118845139-118845140	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs570147661	chr5:118845212-118845213	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539262377	chr5:118845213-118845214	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs562659397	chr5:118845221-118845222	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs68024523	chr5:118845245-118845246	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572359204	chr5:118845259-118845260	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535010158	chr5:118845340-118845341	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs545054508	chr5:118845344-118845345	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs72788192	chr5:118845364-118845365	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543545680	chr5:118845418-118845419	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs373836281	chr5:118845427-118845428	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs386691668	chr5:118845448-118845449	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs190106118	chr5:118845456-118845457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375907898	chr5:118845525-118845526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs577274101	chr5:118845530-118845531	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181349959	chr5:118845548-118845549	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs56332309	chr5:118845556-118845557	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs35896589	chr5:118845575-118845576	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs185228512	chr5:118845585-118845586	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	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:173 , 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	chr5:118806000-118846400	Weak transcription	Esophagus	oesophagus
5	chr5:118806000-118846400	Weak transcription	Spleen	Spleen
6	chr5:118806200-118844800	Weak transcription	Thymus	Thymus
7	chr5:118806200-118846400	Weak transcription	Pancreas	Pancrea
8	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:118806400-118845000	Weak transcription	Fetal Stomach	stomach
10	chr5:118806400-118846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:118806800-118845400	Weak transcription	Fetal Heart	heart
12	chr5:118812000-118846400	Weak transcription	NHLF	lung
13	chr5:118814000-118845000	Weak transcription	Gastric	stomach
14	chr5:118814000-118845200	Weak transcription	Aorta	Aorta
15	chr5:118814800-118844800	Weak transcription	Lung	lung
16	chr5:118815800-118845400	Weak transcription	HMEC	breast
17	chr5:118816000-118847000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:118817000-118846400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr5:118820200-118846400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr5:118827600-118847800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:118829800-118844800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:118830400-118845200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:118832400-118878200	Weak transcription	NH-A	brain
24	chr5:118832600-118868600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:118832800-118844600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:118833000-118860200	Weak transcription	Stomach Mucosa	stomach
27	chr5:118833200-118845000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:118833200-118845000	Weak transcription	Ovary	ovary
29	chr5:118833200-118845000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:118833200-118846000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:118834400-118847800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:118834800-118846400	Weak transcription	Small Intestine	intestine
33	chr5:118836000-118844800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:118836000-118844800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:118836000-118850600	Weak transcription	HUVEC	blood vessel
36	chr5:118836600-118846400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:118837600-118846200	Weak transcription	HepG2	liver
38	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:118839800-118844800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:118840000-118845000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:118840000-118845200	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:118840000-118845400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:118840000-118846000	Weak transcription	Fetal Thymus	thymus
44	chr5:118840000-118846600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:118840200-118845000	Weak transcription	Brain Angular Gyrus	brain
46	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
47	chr5:118840400-118845400	Weak transcription	Fetal Kidney	kidney
48	chr5:118840400-118846400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:118840600-118846200	Weak transcription	K562	blood
50	chr5:118840800-118844800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links