Variant report

Variant	rs73406042
Chromosome Location	chr15:49917768-49917769
allele	C/T
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	ZNF143	chr15:49917684-49917982	GM12878	blood:	n/a	n/a
2	CBX3	chr15:49917589-49918031	K562	blood:	n/a	n/a
3	ZNF143	chr15:49917696-49917953	Hela-S3	cervix:	n/a	n/a
4	CBX3	chr15:49917634-49918098	K562	blood:	n/a	n/a
5	KAP1	chr15:49917615-49918328	K562	blood:	n/a	n/a
6	ZNF143	chr15:49917701-49917964	K562	blood:	n/a	n/a
7	POLR2A	chr15:49917767-49917927	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr15:49917559-49918082	A549	lung:	n/a	n/a
9	SETDB1	chr15:49917408-49918260	U2OS	brain:	n/a	chr15:49918202-49918226
10	SETDB1	chr15:49917644-49918037	K562	blood:	n/a	n/a
11	CBX3	chr15:49917679-49918087	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:49917420..49918953-chr15:49923560..49925344,2	K562	blood:
2	chr15:49917069..49919627-chr15:49927874..49930419,3	MCF-7	breast:
3	chr15:49916467..49919057-chr15:49966051..49969032,2	MCF-7	breast:

Variant related genes	Relation type
FAM227B	TF binding region
ENSG00000104047	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs60130190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60707261	0.89[AFR][1000 genomes]
rs61014555	0.89[AFR][1000 genomes]
rs73391027	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73391029	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400271	0.86[AFR][1000 genomes]
rs73400275	0.86[AFR][1000 genomes]
rs73404129	0.89[AFR][1000 genomes]
rs73404137	0.89[AFR][1000 genomes]
rs73404155	0.89[AFR][1000 genomes]
rs73404164	0.88[AFR][1000 genomes]
rs73404198	0.89[AFR][1000 genomes]
rs73406010	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406011	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406015	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406020	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406029	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406074	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406095	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406097	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569392	chr15:49789413-49926300	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49913600-49937400	Weak transcription	Spleen	Spleen
2	chr15:49914000-49917800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:49914000-49917800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:49914000-49917800	Weak transcription	Esophagus	oesophagus
5	chr15:49914000-49917800	Weak transcription	Left Ventricle	heart
6	chr15:49914000-49917800	Weak transcription	Lung	lung
7	chr15:49914000-49930000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:49914400-49917800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:49914400-49917800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr15:49914400-49917800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:49914400-49917800	Weak transcription	Aorta	Aorta
12	chr15:49914400-49917800	Weak transcription	Colonic Mucosa	Colon
13	chr15:49914400-49917800	Weak transcription	Fetal Intestine Large	intestine
14	chr15:49914400-49917800	Weak transcription	Gastric	stomach
15	chr15:49914400-49917800	Weak transcription	Right Ventricle	heart
16	chr15:49914400-49918000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr15:49914400-49918000	Weak transcription	Thymus	Thymus
18	chr15:49914400-49927200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:49914400-49936400	Weak transcription	Small Intestine	intestine
20	chr15:49914400-49938000	Weak transcription	Brain Substantia Nigra	brain
21	chr15:49914600-49917800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:49914600-49917800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:49914600-49917800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:49914600-49917800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:49914600-49927200	Weak transcription	Fetal Brain Female	brain
26	chr15:49914600-49932600	Weak transcription	Fetal Brain Male	brain
27	chr15:49914600-49934400	Weak transcription	Stomach Mucosa	stomach
28	chr15:49914800-49917800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr15:49914800-49937800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:49915000-49917800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr15:49915000-49917800	Weak transcription	Fetal Kidney	kidney
32	chr15:49915000-49918000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:49915000-49918600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:49915000-49919600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:49915000-49936600	Weak transcription	Pancreas	Pancrea
36	chr15:49915200-49917800	Weak transcription	Brain Germinal Matrix	brain
37	chr15:49915200-49919600	Weak transcription	Brain Angular Gyrus	brain
38	chr15:49915400-49917800	Weak transcription	Brain Hippocampus Middle	brain
39	chr15:49915400-49918800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:49915400-49937800	Weak transcription	Brain Anterior Caudate	brain
41	chr15:49915600-49917800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:49915600-49917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr15:49915600-49918200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr15:49915600-49918600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
45	chr15:49915600-49919800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:49915800-49917800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:49915800-49917800	Weak transcription	Fetal Stomach	stomach
48	chr15:49915800-49917800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:49915800-49918000	Weak transcription	HepG2	liver
50	chr15:49915800-49918600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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