Variant report

Variant	rs56203022
Chromosome Location	chr15:40577469-40577470
allele	A/G
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	GATA3	chr15:40577406-40577667	T-47D	breast:	n/a	n/a
2	POLR2A	chr15:40577405-40577693	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr15:40577340-40577678	H1-neurons	neurons:	n/a	n/a
4	BHLHE40	chr15:40577219-40577549	K562	blood:	n/a	chr15:40577386-40577395 chr15:40577385-40577394 chr15:40577386-40577395 chr15:40577384-40577397 chr15:40577380-40577401

No.	Distal block	Cell Line	Cell type
1	chr15:40574062..40576054-chr15:40576149..40578391,2	K562	blood:
2	chr15:40575404..40577527-chr15:40578874..40580653,2	MCF-7	breast:
3	chr15:40574554..40576537-chr15:40576629..40578391,2	K562	blood:

Variant related genes	Relation type
ANKRD63	TF binding region
ENSG00000230778	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1123487	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11857340	0.83[EUR][1000 genomes]
rs2305645	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305646	0.96[ASN][1000 genomes]
rs28676999	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3743138	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3784399	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55927878	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56135201	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62021888	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8023550	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv904095	chr15:40525430-40591570	Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv471240	chr15:40528155-40595627	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv904096	chr15:40550149-40604777	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv904097	chr15:40555065-40595627	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv517541	chr15:40557268-40595627	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv904098	chr15:40564576-40586537	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv457118	chr15:40565705-40606484	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv569227	chr15:40565705-40606484	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40572000-40592800	Weak transcription	Dnd41	blood
2	chr15:40575200-40578000	Enhancers	Fetal Heart	heart
3	chr15:40575200-40581600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:40575600-40579800	Weak transcription	A549	lung
5	chr15:40575600-40582800	Weak transcription	Right Atrium	heart
6	chr15:40575800-40579000	Enhancers	Stomach Smooth Muscle	stomach
7	chr15:40575800-40579800	Bivalent Enhancer	Fetal Stomach	stomach
8	chr15:40575800-40581200	Weak transcription	Pancreas	Pancrea
9	chr15:40575800-40581400	Weak transcription	Liver	Liver
10	chr15:40575800-40584400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr15:40575800-40592600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:40576000-40577600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:40576000-40578000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:40576000-40578800	Weak transcription	Primary T cells from cord blood	blood
15	chr15:40576000-40579000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr15:40576000-40579000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr15:40576000-40579200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:40576000-40579600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:40576000-40579800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr15:40576000-40579800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:40576000-40581400	Weak transcription	Gastric	stomach
22	chr15:40576000-40581600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:40576000-40590800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:40576200-40578600	Weak transcription	Spleen	Spleen
25	chr15:40576200-40579000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:40576200-40579000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:40576200-40581400	Weak transcription	Primary B cells from cord blood	blood
28	chr15:40576200-40592600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:40576400-40577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:40576400-40579000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr15:40576400-40580200	Weak transcription	Right Ventricle	heart
32	chr15:40576800-40579600	Enhancers	Fetal Brain Male	brain
33	chr15:40577000-40578200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr15:40577000-40579000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:40577000-40579200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr15:40577000-40579200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr15:40577000-40579200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:40577000-40580600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:40577200-40577600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr15:40577200-40577600	Enhancers	Brain Hippocampus Middle	brain
41	chr15:40577200-40578000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr15:40577200-40578000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr15:40577200-40578200	Enhancers	Brain Anterior Caudate	brain
44	chr15:40577200-40578200	Enhancers	Colon Smooth Muscle	Colon
45	chr15:40577200-40578200	Enhancers	Rectal Smooth Muscle	rectum
46	chr15:40577200-40578400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr15:40577200-40578400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr15:40577200-40578800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr15:40577200-40578800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
50	chr15:40577200-40578800	Enhancers	NH-A	brain

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