Variant report

Variant	rs16918536
Chromosome Location	chr9:102130554-102130555
allele	G/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	MEF2A	chr9:102130399-102131134	GM12878	blood:	n/a	chr9:102130743-102130758 chr9:102130746-102130757 chr9:102130744-102130759 chr9:102130744-102130759 chr9:102130739-102130760 chr9:102130744-102130758 chr9:102130745-102130756 chr9:102130739-102130760 chr9:102130743-102130759 chr9:102130746-102130755
2	PML	chr9:102130417-102131053	GM12878	blood:	n/a	chr9:102130886-102130894
3	RUNX3	chr9:102130504-102130985	GM12878	blood:	n/a	n/a
4	FOXM1	chr9:102130429-102131095	GM12878	blood:	n/a	n/a
5	CREB1	chr9:102130503-102131021	GM12878	blood:	n/a	n/a
6	FOXM1	chr9:102130435-102131045	GM12878	blood:	n/a	n/a
7	ATF2	chr9:102130458-102131029	GM12878	blood:	n/a	n/a
8	MEF2C	chr9:102130446-102131154	GM12878	blood:	n/a	chr9:102130743-102130758 chr9:102130746-102130757 chr9:102130744-102130759 chr9:102130744-102130759 chr9:102130739-102130760 chr9:102130744-102130758 chr9:102130745-102130756 chr9:102130739-102130760 chr9:102130743-102130759 chr9:102130746-102130755
9	POU2F2	chr9:102130544-102130942	GM12878	blood:	n/a	chr9:102130814-102130826
10	CHD2	chr9:102130502-102130962	GM12878	blood:	n/a	n/a
11	PAX5	chr9:102130453-102131047	GM12878	blood:	n/a	n/a
12	EP300	chr9:102130523-102130968	GM12878	blood:	n/a	n/a
13	MXI1	chr9:102130529-102130867	GM12878	blood:	n/a	n/a
14	CEBPB	chr9:102130446-102131008	GM12878	blood:	n/a	n/a
15	NFATC1	chr9:102130544-102130874	GM12878	blood:	n/a	n/a
16	BCLAF1	chr9:102130497-102130953	GM12878	blood:	n/a	n/a
17	MAZ	chr9:102130438-102131307	IMR90	lung:	n/a	chr9:102130468-102130479 chr9:102130469-102130478 chr9:102130469-102130479 chr9:102130467-102130480 chr9:102130469-102130478 chr9:102130922-102130932 chr9:102130470-102130477
18	NFIC	chr9:102130465-102130997	GM12878	blood:	n/a	n/a
19	MTA3	chr9:102130553-102130957	GM12878	blood:	n/a	n/a
20	POU2F2	chr9:102130469-102130962	GM12878	blood:	n/a	chr9:102130814-102130826
21	ATF2	chr9:102130479-102131020	GM12878	blood:	n/a	n/a
22	NFATC1	chr9:102130509-102130938	GM12878	blood:	n/a	n/a
23	MTA3	chr9:102130472-102131000	GM12878	blood:	n/a	n/a
24	NFIC	chr9:102130505-102131094	GM12878	blood:	n/a	n/a
25	BHLHE40	chr9:102130532-102130978	GM12878	blood:	n/a	chr9:102130852-102130868
26	SMC3	chr9:102130549-102130830	GM12878	blood:	n/a	n/a
27	EBF1	chr9:102130535-102131081	GM12878	blood:	n/a	n/a
28	MEF2C	chr9:102130507-102130951	GM12878	blood:	n/a	chr9:102130743-102130758 chr9:102130746-102130757 chr9:102130744-102130759 chr9:102130744-102130759 chr9:102130739-102130760 chr9:102130744-102130758 chr9:102130745-102130756 chr9:102130739-102130760 chr9:102130743-102130759 chr9:102130746-102130755
29	STAT5A	chr9:102130532-102130925	GM12878	blood:	n/a	chr9:102130867-102130879
30	POLR2A	chr9:102130500-102131138	IMR90	lung:	n/a	n/a
31	TBL1XR1	chr9:102130546-102131053	GM12878	blood:	n/a	n/a
32	RUNX3	chr9:102130475-102131060	GM12878	blood:	n/a	n/a
33	MEF2A	chr9:102130524-102131094	GM12878	blood:	n/a	chr9:102130743-102130758 chr9:102130746-102130757 chr9:102130744-102130759 chr9:102130744-102130759 chr9:102130739-102130760 chr9:102130744-102130758 chr9:102130745-102130756 chr9:102130739-102130760 chr9:102130743-102130759 chr9:102130746-102130755
34	CREB1	chr9:102130446-102131105	GM12878	blood:	n/a	n/a
35	WRNIP1	chr9:102130550-102130829	GM12878	blood:	n/a	n/a
36	MAZ	chr9:102130532-102131000	GM12878	blood:	n/a	chr9:102130922-102130932

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102129944..102132650-chr9:102133086..102135348,2	MCF-7	breast:

Variant related genes	Relation type
NAMA	TF binding region
ENSG00000271086	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10491654	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10739780	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10760680	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10819657	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1323470	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555572	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1555573	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1626179	0.86[ASN][1000 genomes]
rs1648636	0.84[ASN][1000 genomes]
rs170461	0.98[ASN][1000 genomes]
rs1746153	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs192965	0.86[ASN][1000 genomes]
rs2281728	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2586563	0.98[ASN][1000 genomes]
rs323723	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs323724	0.88[ASN][1000 genomes]
rs323725	0.89[ASN][1000 genomes]
rs323726	0.88[ASN][1000 genomes]
rs323734	0.89[ASN][1000 genomes]
rs323735	0.89[ASN][1000 genomes]
rs398150	0.89[ASN][1000 genomes]
rs398676	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs417512	0.89[ASN][1000 genomes]
rs439733	0.89[ASN][1000 genomes]
rs4742768	0.98[ASN][1000 genomes]
rs696875	0.89[ASN][1000 genomes]
rs696876	0.89[ASN][1000 genomes]
rs701343	0.93[ASN][1000 genomes]
rs701344	0.89[ASN][1000 genomes]
rs701347	0.89[ASN][1000 genomes]
rs701349	0.89[ASN][1000 genomes]
rs701350	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7023945	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7024065	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7029079	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7030379	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7037489	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7038667	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7871334	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs988245	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893620	chr9:102029791-102194921	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831667	chr9:102068047-102285691	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1046898	chr9:102111890-102163313	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102114800-102131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:102126600-102131000	Enhancers	Fetal Heart	heart
3	chr9:102127600-102130600	Enhancers	Lung	lung
4	chr9:102127800-102130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:102127800-102130600	Enhancers	Fetal Muscle Leg	muscle
6	chr9:102128200-102130800	Weak transcription	HMEC	breast
7	chr9:102128600-102130800	Enhancers	Psoas Muscle	Psoas
8	chr9:102128800-102130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:102129400-102130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:102129400-102131600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:102129600-102130600	Enhancers	Primary hematopoietic stem cells	blood
12	chr9:102129800-102130600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr9:102129800-102130800	Enhancers	Left Ventricle	heart
14	chr9:102129800-102132000	Enhancers	Fetal Brain Male	brain
15	chr9:102130200-102130600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:102130200-102130600	Bivalent Enhancer	Primary B cells from cord blood	blood
17	chr9:102130200-102130600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:102130200-102130600	Bivalent Enhancer	Colonic Mucosa	Colon
19	chr9:102130200-102130600	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:102130200-102130600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr9:102130200-102130600	Enhancers	Fetal Stomach	stomach
22	chr9:102130200-102130600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr9:102130200-102130800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr9:102130200-102130800	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr9:102130200-102130800	Bivalent Enhancer	Fetal Thymus	thymus
26	chr9:102130200-102130800	Enhancers	Spleen	Spleen
27	chr9:102130200-102131000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr9:102130200-102131400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr9:102130400-102130600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr9:102130400-102130600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:102130400-102130600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:102130400-102130600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr9:102130400-102130600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr9:102130400-102130600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr9:102130400-102130600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:102130400-102130600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr9:102130400-102130600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:102130400-102130600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:102130400-102130600	Flanking Active TSS	Aorta	Aorta
40	chr9:102130400-102130600	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr9:102130400-102130600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr9:102130400-102130600	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr9:102130400-102130600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr9:102130400-102130600	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr9:102130400-102130600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
46	chr9:102130400-102130600	Enhancers	Fetal Lung	lung
47	chr9:102130400-102130600	Enhancers	Placenta	Placenta
48	chr9:102130400-102130600	Flanking Active TSS	Ovary	ovary
49	chr9:102130400-102130600	Flanking Active TSS	Right Atrium	heart
50	chr9:102130400-102130600	Flanking Active TSS	Right Ventricle	heart

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