Variant report

Variant	rs2301217
Chromosome Location	chr16:12639263-12639264
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	POLR2A	chr16:12639189-12639388	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:12636690-12639643	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:12636727-12640562	GM12891	blood:	n/a	n/a
4	POLR2A	chr16:12639178-12639664	GM12891	blood:	n/a	n/a
5	PML	chr16:12638936-12640499	GM12878	blood:	n/a	n/a
6	FOXA2	chr16:12638910-12639370	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:12636855-12640530	GM12891	blood:	n/a	n/a
8	CEBPB	chr16:12638349-12639295	HepG2	liver:	n/a	n/a
9	MTA3	chr16:12639089-12643103	GM12878	blood:	n/a	n/a
10	EP300	chr16:12638846-12639399	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:12637143-12640374	GM12878	blood:	n/a	n/a
12	MAZ	chr16:12638948-12639355	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:12636967-12640529	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:12638866-12639353	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000260601	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1007324	0.88[EUR][1000 genomes]
rs10492794	0.95[EUR][1000 genomes]
rs10852350	0.84[EUR][1000 genomes]
rs11075089	0.84[EUR][1000 genomes]
rs11075090	0.83[EUR][1000 genomes]
rs11640491	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11642326	0.84[EUR][1000 genomes]
rs11643978	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645403	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645654	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645856	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11645899	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11647147	0.92[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1540279	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1614433	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1615250	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1616112	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618096	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1641873	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1641877	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1641879	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1641881	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1641889	1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1641890	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1641893	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17240735	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819472	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1794306	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794307	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794308	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794309	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794310	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794312	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1794313	0.93[EUR][1000 genomes]
rs1794315	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1794316	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1970769	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006159	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2213293	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301218	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856784	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2865230	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902959	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2902961	0.92[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764301	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3975365	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4390575	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513084	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026884	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026887	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62026957	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187812	0.85[EUR][1000 genomes]
rs728583	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728584	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9788839	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS 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	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv571465	chr16:12625395-12639800	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1054084	chr16:12625727-12650247	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv431433	chr16:12628409-12654408	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1842867	chr16:12632286-12678721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1039338	chr16:12632918-12642955	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1040887	chr16:12632918-12650247	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv2751546	chr16:12635498-12674704	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1040358	chr16:12636982-12650247	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12625800-12643400	Weak transcription	Gastric	stomach
3	chr16:12627000-12642200	Weak transcription	Right Ventricle	heart
4	chr16:12632800-12640200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr16:12632800-12641000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:12632800-12646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
8	chr16:12633000-12646600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:12633200-12640600	Weak transcription	Stomach Mucosa	stomach
10	chr16:12633200-12640800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr16:12633400-12654400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr16:12633600-12640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:12633800-12640000	Weak transcription	NHEK	skin
14	chr16:12634200-12640600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:12635000-12644200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:12635400-12640600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:12635600-12641000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr16:12636000-12642600	Flanking Active TSS	GM12878-XiMat	blood
19	chr16:12636400-12640600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:12637200-12642200	Enhancers	Spleen	Spleen
21	chr16:12637600-12641800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr16:12637600-12642400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr16:12637600-12642800	Enhancers	Primary B cells from cord blood	blood
24	chr16:12638000-12639400	Enhancers	HSMMtube	muscle
25	chr16:12638200-12641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:12638400-12639400	Enhancers	Brain Angular Gyrus	brain
27	chr16:12638400-12639800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:12638400-12639800	Enhancers	Brain Hippocampus Middle	brain
29	chr16:12638400-12641200	Enhancers	Brain Substantia Nigra	brain
30	chr16:12638600-12639600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr16:12638600-12639800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr16:12638600-12641600	Weak transcription	Fetal Muscle Leg	muscle
33	chr16:12638600-12643000	Enhancers	Primary B cells from peripheral blood	blood
34	chr16:12638600-12644000	Weak transcription	Primary T cells from cord blood	blood
35	chr16:12638800-12641000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr16:12638800-12645400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:12639000-12639400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:12639000-12639400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr16:12639000-12639600	Weak transcription	Fetal Thymus	thymus
40	chr16:12639200-12639400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:12639200-12639400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr16:12639200-12639400	Enhancers	Lung	lung
43	chr16:12639200-12639600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr16:12639200-12639600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr16:12639200-12640000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr16:12639200-12640000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr16:12639200-12641000	Weak transcription	HSMM	muscle
48	chr16:12639200-12641000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr16:12639200-12641200	Enhancers	HepG2	liver
50	chr16:12639200-12643000	Enhancers	Esophagus	oesophagus

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