Variant report

Variant	nsv969943
Chromosome Location	chr5:118864122-118868093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:118868088-118868866	K562	blood:	n/a	n/a
2	EP300	chr5:118865750-118865786	GM12878	blood:	n/a	n/a
3	GATA3	chr5:118865825-118866025	MCF-7	breast:	n/a	n/a
4	GATA3	chr5:118867563-118867763	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr5:118865617-118866408	MCF-7	breast:	n/a	n/a
6	GATA3	chr5:118865492-118866467	MCF-7	breast:	n/a	n/a
7	GATA3	chr5:118865841-118866167	MCF-7	breast:	n/a	n/a
8	NR2F2	chr5:118866021-118866548	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:118866420-118866482	A549	lung:	n/a	n/a
10	POLR2A	chr5:118866290-118866470	HepG2	liver:	n/a	n/a
11	SPI1	chr5:118865510-118865817	GM12891	blood:	n/a	n/a
12	SPI1	chr5:118865555-118865822	K562	blood:	n/a	n/a
13	SPI1	chr5:118865524-118865887	GM12878	blood:	n/a	n/a
14	SPI1	chr5:118865594-118865747	GM12878	blood:	n/a	n/a
15	SPI1	chr5:118865464-118865786	GM12891	blood:	n/a	n/a
16	SPI1	chr5:118865517-118865865	HL-60	blood:	n/a	n/a
17	SPI1	chr5:118865584-118865813	K562	blood:	n/a	n/a
18	SPI1	chr5:118865607-118865855	HL-60	blood:	n/a	n/a
19	STAT3	chr5:118865768-118865986	MCF10A-Er-Src	breast:	n/a	n/a
20	TAL1	chr5:118865661-118865710	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118866950..118868481-chr5:118871752..118873914,2	K562	blood:
2	chr5:118753614..118755538-chr5:118867454..118869085,2	K562	blood:
3	chr5:118863717..118866521-chr5:118868164..118871056,3	K562	blood:

No data

Variant related genes	Relation type
HSD17B4	TF binding region

Extended variants
information (count: 172 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73790882	chr5:118864134-118864135	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3839245	chr5:118864174-118864175	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537540860	chr5:118864175-118864176	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557786661	chr5:118864199-118864200	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184561183	chr5:118864203-118864204	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564161387	chr5:118864252-118864253	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539995231	chr5:118864320-118864321	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553633482	chr5:118864322-118864323	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573562805	chr5:118864398-118864399	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201085835	chr5:118864413-118864414	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542587842	chr5:118864420-118864421	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544431458	chr5:118864464-118864465	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547664331	chr5:118864561-118864562	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201443113	chr5:118864588-118864589	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35182344	chr5:118864589-118864590	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs386691671	chr5:118864590-118864591	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199590913	chr5:118864592-118864593	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564568367	chr5:118864644-118864645	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2678075	chr5:118864736-118864737	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368992647	chr5:118864756-118864757	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552322238	chr5:118864798-118864799	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17145459	chr5:118864831-118864832	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150686599	chr5:118864874-118864875	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569060643	chr5:118864875-118864876	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73251677	chr5:118864878-118864879	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs3797369	chr5:118864894-118864895	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs74769896	chr5:118864899-118864900	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185862302	chr5:118864902-118864903	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79060912	chr5:118864920-118864921	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553595935	chr5:118864964-118864965	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567119416	chr5:118864987-118864988	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559425584	chr5:118865078-118865079	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs72788199	chr5:118865086-118865087	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556059214	chr5:118865124-118865125	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs189590441	chr5:118865193-118865194	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182059730	chr5:118865202-118865203	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs72082090	chr5:118865263-118865264	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs76017204	chr5:118865267-118865268	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs6149208	chr5:118865268-118865269	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74649647	chr5:118865277-118865278	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs80248925	chr5:118865325-118865326	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs557891606	chr5:118865326-118865327	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs578035478	chr5:118865335-118865336	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs376243496	chr5:118865339-118865340	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540366128	chr5:118865342-118865343	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs60146316	chr5:118865413-118865414	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35335781	chr5:118865545-118865546	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529008395	chr5:118865547-118865548	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542422357	chr5:118865570-118865571	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2560722	chr5:118865612-118865613	Weak transcription Genic enhancers Strong transcription 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
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:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:118832400-118878200	Weak transcription	NH-A	brain
3	chr5:118832600-118868600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
6	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
7	chr5:118841200-118880000	Weak transcription	A549	lung
8	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
9	chr5:118845800-118868800	Weak transcription	Fetal Heart	heart
10	chr5:118846800-118878200	Weak transcription	NHLF	lung
11	chr5:118847000-118868000	Weak transcription	K562	blood
12	chr5:118847200-118873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
14	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:118847400-118872000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:118847400-118873000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:118847400-118873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:118847400-118873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:118847400-118875800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:118847400-118876000	Weak transcription	Colonic Mucosa	Colon
22	chr5:118847400-118878200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:118847400-118879800	Weak transcription	HSMMtube	muscle
24	chr5:118847600-118865000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:118847600-118873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:118847600-118873400	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:118847600-118873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:118847600-118877600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:118847600-118878200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:118847600-118879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:118850000-118865600	Weak transcription	GM12878-XiMat	blood
32	chr5:118851800-118876400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:118852800-118878200	Weak transcription	Aorta	Aorta
34	chr5:118853000-118880200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:118853400-118878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:118853400-118878200	Weak transcription	Esophagus	oesophagus
37	chr5:118853400-118878200	Weak transcription	Gastric	stomach
38	chr5:118854200-118875600	Weak transcription	Pancreas	Pancrea
39	chr5:118854400-118877600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:118854400-118878400	Weak transcription	Spleen	Spleen
41	chr5:118854400-118879600	Weak transcription	Fetal Kidney	kidney
42	chr5:118854400-118880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:118854800-118875600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:118854800-118877600	Weak transcription	Fetal Intestine Small	intestine
45	chr5:118854800-118878200	Weak transcription	Thymus	Thymus
46	chr5:118855200-118867000	Weak transcription	Brain Anterior Caudate	brain
47	chr5:118855200-118873200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:118855400-118874200	Weak transcription	Ovary	ovary
49	chr5:118855400-118875800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:118855400-118876400	Weak transcription	Lung	lung

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