Variant report

Variant	rs6492941
Chromosome Location	chr15:40576261-40576262
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	POLR2A	chr15:40574226-40576624	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr15:40576174-40576284	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr15:40575413-40576345	H1-hESC	embryonic stem cell:	n/a	chr15:40576109-40576119 chr15:40575565-40575574 chr15:40575632-40575644 chr15:40575569-40575579
4	CTBP2	chr15:40572719-40576563	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40574062..40576054-chr15:40576149..40578391,2	K562	blood:
2	chr15:40566616..40567536-chr15:40575443..40576329,2	K562	blood:
3	chr15:40575377..40577430-chr15:40595263..40597103,2	K562	blood:
4	chr15:40575404..40577527-chr15:40578874..40580653,2	MCF-7	breast:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10851394	1.00[GIH][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869905	0.83[AMR][1000 genomes]
rs7164348	0.83[AMR][1000 genomes]
rs7176449	1.00[MEX][hapmap]
rs7183947	1.00[EUR][1000 genomes]
rs73391372	1.00[ASN][1000 genomes]
rs73391376	0.83[AMR][1000 genomes]
rs73391381	0.83[AMR][1000 genomes]
rs7495060	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	esv3355014	chr15:40572360-40576658	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40571600-40576800	Bivalent Enhancer	Fetal Brain Male	brain
2	chr15:40572000-40592800	Weak transcription	Dnd41	blood
3	chr15:40573200-40576400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr15:40573400-40576400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr15:40573400-40576400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:40573600-40576400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr15:40573600-40576400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr15:40573600-40576600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:40575000-40576400	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr15:40575200-40576600	Bivalent Enhancer	Placenta	Placenta
11	chr15:40575200-40578000	Enhancers	Fetal Heart	heart
12	chr15:40575200-40581600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:40575400-40577200	Weak transcription	Left Ventricle	heart
14	chr15:40575600-40576400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr15:40575600-40576400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
16	chr15:40575600-40576400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:40575600-40576400	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr15:40575600-40576400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr15:40575600-40576400	Enhancers	Right Ventricle	heart
20	chr15:40575600-40576600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:40575600-40577200	Weak transcription	Brain Anterior Caudate	brain
22	chr15:40575600-40579800	Weak transcription	A549	lung
23	chr15:40575600-40582800	Weak transcription	Right Atrium	heart
24	chr15:40575800-40576400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr15:40575800-40576400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr15:40575800-40576800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr15:40575800-40579000	Enhancers	Stomach Smooth Muscle	stomach
28	chr15:40575800-40579800	Bivalent Enhancer	Fetal Stomach	stomach
29	chr15:40575800-40581200	Weak transcription	Pancreas	Pancrea
30	chr15:40575800-40581400	Weak transcription	Liver	Liver
31	chr15:40575800-40584400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr15:40575800-40592600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:40576000-40576400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:40576000-40576400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr15:40576000-40576400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:40576000-40576600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr15:40576000-40577600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr15:40576000-40578000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:40576000-40578800	Weak transcription	Primary T cells from cord blood	blood
40	chr15:40576000-40579000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:40576000-40579000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:40576000-40579200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:40576000-40579600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr15:40576000-40579800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr15:40576000-40579800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:40576000-40581400	Weak transcription	Gastric	stomach
47	chr15:40576000-40581600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:40576000-40590800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:40576200-40576400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
50	chr15:40576200-40576400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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