Variant report

Variant	rs7314241
Chromosome Location	chr12:9516609-9516610
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	chr12:9516546-9517515	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBL1XR1	chr12:9515537-9518036	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:9515357-9518289	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:9516492-9517475	H1-hESC	embryonic stem cell:	n/a	n/a
5	MTA3	chr12:9513806-9518741	GM12878	blood:	n/a	n/a
6	NFIC	chr12:9516412-9518439	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:9515210-9518678	GM12892	blood:	n/a	n/a
8	POLR2A	chr12:9515459-9518442	GM12891	blood:	n/a	n/a
9	STAT5A	chr12:9516488-9518089	GM12878	blood:	n/a	chr12:9516641-9516655 chr12:9516596-9516607
10	ATF2	chr12:9514144-9518351	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:9515268-9518663	GM12892	blood:	n/a	n/a
12	EP300	chr12:9516474-9517863	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:9516444-9517946	GM12891	blood:	n/a	n/a
14	POLR2A	chr12:9516220-9517950	GM12891	blood:	n/a	n/a
15	RUNX3	chr12:9516224-9518329	GM12878	blood:	n/a	n/a
16	BCLAF1	chr12:9516321-9518443	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:9515855-9518400	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:9515686-9518336	GM12892	blood:	n/a	n/a
19	PML	chr12:9515398-9518380	GM12878	blood:	n/a	n/a
20	POU2F2	chr12:9516583-9517819	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:9515669-9518302	GM12878	blood:	n/a	n/a
22	PML	chr12:9516497-9517960	GM12878	blood:	n/a	n/a
23	BCLAF1	chr12:9516391-9518359	GM12878	blood:	n/a	n/a
24	ATF2	chr12:9516298-9518464	GM12878	blood:	n/a	n/a
25	MTA3	chr12:9515491-9518616	GM12878	blood:	n/a	n/a
26	FOXM1	chr12:9516445-9518417	GM12878	blood:	n/a	n/a
27	CEBPB	chr12:9516410-9518549	GM12878	blood:	n/a	chr12:9518109-9518122 chr12:9518111-9518122
28	TAF7	chr12:9516557-9517355	H1-hESC	embryonic stem cell:	n/a	n/a
29	NFATC1	chr12:9516436-9518423	GM12878	blood:	n/a	n/a
30	NFIC	chr12:9516346-9518467	GM12878	blood:	n/a	n/a
31	RUNX3	chr12:9516335-9518524	GM12878	blood:	n/a	n/a
32	FOXM1	chr12:9516408-9518387	GM12878	blood:	n/a	n/a
33	NFATC1	chr12:9516473-9518421	GM12878	blood:	n/a	n/a
34	PAX5	chr12:9516594-9518015	GM12878	blood:	n/a	n/a
35	IKZF1	chr12:9516587-9518210	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:9515282-9518433	GM12878	blood:	n/a	n/a
37	STAT5A	chr12:9515551-9518334	GM12878	blood:	n/a	chr12:9516641-9516655 chr12:9516596-9516607
38	POLR2A	chr12:9515243-9518471	GM12892	blood:	n/a	n/a
39	POLR2A	chr12:9516417-9517890	GM12891	blood:	n/a	n/a
40	POLR2A	chr12:9515223-9518659	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9514472..9517285-chr12:9517571..9520331,3	K562	blood:
2	chr12:9514676..9517481-chr12:9908794..9910668,2	K562	blood:

Variant related genes	Relation type
ENSG00000260423	TF binding region
ENSG00000260423	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10771596	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs10843520	0.86[AFR][1000 genomes]
rs4883246	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs4883247	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs4883250	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs7135599	0.98[AFR][1000 genomes]
rs7294729	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs7298303	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7313591	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
8	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv976736	chr12:9431362-9524845	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv898740	chr12:9436446-9546962	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv898741	chr12:9458525-9546962	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1035958	chr12:9472365-9579109	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv898742	chr12:9473157-9518222	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv898743	chr12:9473157-9522350	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv975403	chr12:9481646-9541991	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	esv3436788	chr12:9499151-9519686	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv3332298	chr12:9500121-9519487	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv2760260	chr12:9504060-9519172	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9507000-9516800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:9507000-9517200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:9514800-9517200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr12:9515000-9517000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:9515000-9517800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:9515400-9516800	Enhancers	HepG2	liver
7	chr12:9515400-9517000	Enhancers	HMEC	breast
8	chr12:9515400-9517200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:9515400-9519200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:9515600-9516800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:9515600-9517000	Flanking Active TSS	GM12878-XiMat	blood
12	chr12:9515600-9518600	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:9515800-9516800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:9515800-9517000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:9515800-9517200	Enhancers	K562	blood
16	chr12:9515800-9518200	Enhancers	HSMMtube	muscle
17	chr12:9515800-9518600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:9515800-9520000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:9515800-9520000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:9516000-9516800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:9516000-9516800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:9516000-9517000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:9516000-9517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:9516000-9517200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:9516000-9517200	Enhancers	HSMM	muscle
26	chr12:9516000-9518400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr12:9516000-9518400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:9516000-9519800	Weak transcription	Right Atrium	heart
29	chr12:9516000-9521200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:9516200-9516800	Weak transcription	Fetal Lung	lung
31	chr12:9516200-9518000	Enhancers	Brain Germinal Matrix	brain
32	chr12:9516400-9517000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:9516400-9517200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:9516400-9518400	Enhancers	Brain Angular Gyrus	brain
35	chr12:9516400-9520000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:9516600-9516800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:9516600-9516800	Enhancers	NH-A	brain
38	chr12:9516600-9517000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr12:9516600-9517000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:9516600-9517000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:9516600-9517000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:9516600-9517200	Enhancers	NHEK	skin
43	chr12:9516600-9517400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:9516600-9518000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:9516600-9518000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:9516600-9518400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:9516600-9520000	Enhancers	Fetal Stomach	stomach

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