Variant report

Variant	rs56351200
Chromosome Location	chr15:45427530-45427531
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr15:45427485-45427815	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr15:45426979-45427798	H1-hESC	embryonic stem cell:	n/a	chr15:45427503-45427515
3	TEAD4	chr15:45427488-45427836	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr15:45427062-45427780	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr15:45427530-45427815	GM12878	blood:	n/a	n/a
6	ZNF143	chr15:45427261-45427745	GM12878	blood:	n/a	n/a
7	MAX	chr15:45427469-45427846	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr15:45426981-45427713	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr15:45427522-45427808	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr15:45427480-45427785	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF143	chr15:45426944-45427746	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45421458..45423929-chr15:45425616..45427785,3	K562	blood:
2	chr15:45424906..45427712-chr15:45434989..45436687,2	MCF-7	breast:

No data

Variant related genes	Relation type
DUOX1	TF binding region
ENSG00000140254	Chromatin interaction
ENSG00000137857	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17595239	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62025125	0.86[AMR][1000 genomes];0.92[ASN][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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv904185	chr15:45394406-45428390	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv904186	chr15:45394406-45434493	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv569313	chr15:45413541-45457458	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv457125	chr15:45420718-45450323	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv569314	chr15:45420718-45450323	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45426400-45435200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:45426600-45427600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr15:45426600-45430000	Weak transcription	NHEK	skin
4	chr15:45426600-45438400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:45426600-45440200	Weak transcription	HMEC	breast
6	chr15:45426800-45427800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:45426800-45438200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:45427000-45427600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr15:45427000-45427600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:45427000-45427600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
11	chr15:45427000-45427600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr15:45427000-45427600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:45427000-45427600	Bivalent Enhancer	Brain Angular Gyrus	brain
14	chr15:45427000-45427600	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr15:45427000-45427600	Enhancers	Lung	lung
16	chr15:45427000-45427600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr15:45427000-45427600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr15:45427000-45427600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr15:45427000-45427600	Bivalent Enhancer	Spleen	Spleen
20	chr15:45427000-45427800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
21	chr15:45427000-45427800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
22	chr15:45427000-45428000	Enhancers	Pancreas	Pancrea
23	chr15:45427200-45427600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr15:45427200-45427600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
25	chr15:45427200-45427600	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr15:45427200-45427600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
27	chr15:45427200-45427600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:45427200-45427600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
29	chr15:45427200-45427600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:45427200-45427600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr15:45427200-45427600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:45427200-45427600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:45427200-45427600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
34	chr15:45427200-45427600	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr15:45427200-45427600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr15:45427200-45427600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr15:45427200-45427600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr15:45427200-45427600	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr15:45427200-45427600	Bivalent Enhancer	Left Ventricle	heart
40	chr15:45427200-45427600	Enhancers	Ovary	ovary
41	chr15:45427200-45427600	Bivalent Enhancer	Psoas Muscle	Psoas
42	chr15:45427200-45427600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
43	chr15:45427200-45427600	Active TSS	Right Atrium	heart
44	chr15:45427200-45427600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
45	chr15:45427200-45427600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
46	chr15:45427200-45427800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:45427200-45427800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr15:45427200-45427800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr15:45427200-45427800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr15:45427200-45427800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links