Variant report

Variant	rs72761955
Chromosome Location	chr15:93481671-93481672
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	CTCF	chr15:93481640-93481790	Hela-S3	cervix:	n/a	chr15:93481768-93481777
2	CTCF	chr15:93481660-93481810	GM12869	blood:	n/a	chr15:93481768-93481777
3	CTCF	chr15:93481660-93481810	SK-N-SH_RA	brain:	n/a	chr15:93481768-93481777
4	CTCF	chr15:93481660-93481810	BJ	skin:	n/a	chr15:93481768-93481777
5	CTCF	chr15:93481600-93481750	HFF-Myc	foreskin:	n/a	n/a
6	GATA1	chr15:93480781-93481971	PBDE	blood:	n/a	chr15:93481306-93481316
7	CTCF	chr15:93481660-93481810	HA-sp	spinal cord:	n/a	chr15:93481768-93481777
8	CTCF	chr15:93481612-93481869	IMR90	lung:	n/a	chr15:93481768-93481777
9	CTCF	chr15:93481660-93481810	GM12868	blood:	n/a	chr15:93481768-93481777
10	CTCF	chr15:93481640-93481790	NHDF-neo	bronchial:	n/a	chr15:93481768-93481777
11	POLR2A	chr15:93481570-93482139	PANC-1	pancreas:	n/a	n/a
12	CTCF	chr15:93481640-93481790	HPF	lung:	n/a	chr15:93481768-93481777
13	CTCF	chr15:93481560-93481710	A549	lung:	n/a	n/a
14	CTCF	chr15:93481620-93481770	AG09319	gingival:	n/a	n/a
15	CTCF	chr15:93481660-93481810	AG09309	skin:	n/a	chr15:93481768-93481777
16	CTCF	chr15:93481600-93481750	HRE	kidney:	n/a	n/a
17	CTCF	chr15:93481640-93481790	HPAF	blood vessel:	n/a	chr15:93481768-93481777
18	CTCF	chr15:93481660-93481810	HCPEpiC	choroid plexus:	n/a	chr15:93481768-93481777
19	CTCF	chr15:93481660-93481810	AoAF	blood vessel:	n/a	chr15:93481768-93481777
20	CTCF	chr15:93481620-93481770	HCT-116	colon:	n/a	n/a
21	CTCF	chr15:93481600-93481750	GM12866	blood:	n/a	n/a
22	CTCF	chr15:93481660-93481810	GM12878	blood:	n/a	chr15:93481768-93481777
23	CTCF	chr15:93481660-93481810	RPTEC	kidney:	n/a	chr15:93481768-93481777
24	CTCF	chr15:93481620-93481770	HRE	kidney:	n/a	n/a
25	RFX5	chr15:93481535-93481786	K562	blood:	n/a	n/a
26	CTCF	chr15:93481640-93481790	Caco-2	colon:	n/a	chr15:93481768-93481777
27	CTCF	chr15:93481620-93481770	GM12864	blood:	n/a	n/a
28	CTCF	chr15:93481640-93481790	GM12864	blood:	n/a	chr15:93481768-93481777
29	CTCF	chr15:93481600-93481890	AG09309	skin:	n/a	chr15:93481768-93481777
30	CTCF	chr15:93481620-93481770	BJ	skin:	n/a	n/a
31	CTCF	chr15:93481580-93481730	HCM	heart:	n/a	n/a
32	CTCF	chr15:93481660-93481810	AG04449	skin:	n/a	chr15:93481768-93481777
33	CTCF	chr15:93481640-93481790	HBMEC	blood vessel:	n/a	chr15:93481768-93481777
34	CTCF	chr15:93481620-93481770	WI-38	lung:	n/a	n/a
35	CTCF	chr15:93481640-93481790	HCPEpiC	choroid plexus:	n/a	chr15:93481768-93481777
36	CTCF	chr15:93481620-93481770	NB4	blood:	n/a	n/a
37	CTCF	chr15:93481640-93481790	K562	blood:	n/a	chr15:93481768-93481777

No.	Distal block	Cell Line	Cell type
1	chr15:93480454..93482040-chr15:93514184..93516607,2	K562	blood:
2	chr15:93424784..93426792-chr15:93481094..93482707,2	MCF-7	breast:
3	chr15:93479767..93482269-chr15:93490198..93491804,2	K562	blood:

Variant related genes	Relation type
CHD2	TF binding region
ENSG00000272888	Chromatin interaction
ENSG00000173575	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10520717	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11632522	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11634204	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12901950	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12904680	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12914508	0.85[AMR][1000 genomes]
rs12915072	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12916015	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28540863	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28668136	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34266454	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34498571	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35327372	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35477598	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35596808	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36048863	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56358327	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67190144	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
3	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
4	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv530847	chr15:93444024-93555676	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
6	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93457000-93489800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93461600-93486800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:93461600-93489200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:93463200-93486800	Strong transcription	Dnd41	blood
5	chr15:93465400-93488400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:93466200-93488200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:93466200-93488200	Strong transcription	Thymus	Thymus
8	chr15:93466200-93489400	Strong transcription	K562	blood
9	chr15:93466400-93489000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:93466600-93490600	Strong transcription	Fetal Lung	lung
11	chr15:93466800-93490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:93467200-93490200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:93467200-93490600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:93467400-93489200	Strong transcription	Primary B cells from cord blood	blood
15	chr15:93467400-93490000	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr15:93467600-93490400	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr15:93467600-93490600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:93468600-93490400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:93469000-93489800	Strong transcription	Fetal Thymus	thymus
20	chr15:93469600-93484600	Strong transcription	Left Ventricle	heart
21	chr15:93470000-93488200	Strong transcription	GM12878-XiMat	blood
22	chr15:93473800-93490400	Weak transcription	Right Atrium	heart
23	chr15:93474000-93491400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr15:93474200-93484000	Strong transcription	NHLF	lung
25	chr15:93474200-93490600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:93474200-93490600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:93474400-93484600	Strong transcription	Fetal Stomach	stomach
28	chr15:93474400-93486200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:93474400-93490000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr15:93474400-93490000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:93474400-93490400	Strong transcription	NH-A	brain
32	chr15:93474400-93490600	Strong transcription	Hela-S3	cervix
33	chr15:93474400-93492200	Strong transcription	Fetal Kidney	kidney
34	chr15:93474800-93486400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:93474800-93489800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:93474800-93490600	Strong transcription	Fetal Muscle Leg	muscle
37	chr15:93474800-93490800	Strong transcription	HSMM	muscle
38	chr15:93474800-93492200	Strong transcription	HSMMtube	muscle
39	chr15:93474800-93492200	Strong transcription	Osteobl	bone
40	chr15:93474800-93501800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:93475000-93492600	Strong transcription	NHDF-Ad	bronchial
42	chr15:93475200-93490200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:93475800-93490400	Strong transcription	Adipose Nuclei	Adipose
44	chr15:93475800-93492200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr15:93476200-93488200	Strong transcription	NHEK	skin
46	chr15:93476200-93490600	Strong transcription	HMEC	breast
47	chr15:93476200-93490800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:93476400-93483600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:93476600-93482000	Genic enhancers	Fetal Intestine Large	intestine
50	chr15:93476800-93487600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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