Variant report

Variant	rs12320166
Chromosome Location	chr12:31903545-31903546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr12:31903036-31904165	GM12878	blood:	n/a	n/a
2	SIN3A	chr12:31903435-31903668	GM12878	blood:	n/a	n/a
3	ZNF384	chr12:31902973-31903622	K562	blood:	n/a	n/a
4	EP300	chr12:31903500-31903988	K562	blood:	n/a	n/a
5	POLR2A	chr12:31902921-31903845	GM12892	blood:	n/a	n/a
6	POLR2A	chr12:31903356-31903613	GM12891	blood:	n/a	n/a
7	RUNX3	chr12:31903048-31903962	GM12878	blood:	n/a	n/a
8	RAD21	chr12:31903394-31903638	GM12878	blood:	n/a	n/a
9	BCLAF1	chr12:31903328-31904118	GM12878	blood:	n/a	n/a
10	POLR2A	chr12:31902030-31904345	GM12892	blood:	n/a	n/a
11	CHD2	chr12:31903196-31903779	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr12:31903276-31903755	GM12878	blood:	n/a	n/a
13	POLR2A	chr12:31903016-31905710	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:31903076-31903720	GM12892	blood:	n/a	n/a
15	CTCF	chr12:31903398-31903680	GM12878	blood:	n/a	n/a
16	WRNIP1	chr12:31903430-31904269	GM12878	blood:	n/a	n/a
17	MXI1	chr12:31903121-31903826	GM12878	blood:	n/a	n/a
18	STAT3	chr12:31903287-31904276	GM12878	blood:	n/a	n/a
19	ZNF384	chr12:31902981-31903687	GM12878	blood:	n/a	n/a
20	ELK1	chr12:31903498-31903763	GM12878	blood:	n/a	n/a
21	CEBPB	chr12:31902961-31903578	K562	blood:	n/a	n/a
22	POLR2A	chr12:31903349-31903850	GM12891	blood:	n/a	n/a
23	POLR2A	chr12:31903443-31903812	GM12878	blood:	n/a	n/a
24	JUND	chr12:31903406-31903906	K562	blood:	n/a	n/a
25	ESRRA	chr12:31902945-31906220	GM12878	blood:	n/a	chr12:31905114-31905124 chr12:31905112-31905124 chr12:31905112-31905125 chr12:31905114-31905124
26	POLR2A	chr12:31901893-31904364	GM12878	blood:	n/a	n/a
27	RCOR1	chr12:31903185-31903751	GM12878	blood:	n/a	n/a
28	POLR2A	chr12:31901697-31904366	GM12878	blood:	n/a	n/a
29	CUX1	chr12:31903237-31903557	GM12878	blood:	n/a	n/a
30	CTCF	chr12:31903460-31903610	A549	lung:	n/a	n/a
31	BHLHE40	chr12:31903115-31903770	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:31902962-31905703	GM12878	blood:	n/a	n/a
33	TAL1	chr12:31903307-31903901	K562	blood:	n/a	n/a
34	EBF1	chr12:31903492-31903904	GM12878	blood:	n/a	n/a
35	MAZ	chr12:31903143-31904348	GM12878	blood:	n/a	n/a
36	EP300	chr12:31903340-31903768	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:31903456-31903669	GM12878	blood:	n/a	n/a
38	CTCF	chr12:31903520-31903670	GM12873	blood:	n/a	n/a
39	CBX3	chr12:31903227-31903855	K562	blood:	n/a	n/a
40	IKZF1	chr12:31903370-31904005	GM12878	blood:	n/a	n/a
41	TBP	chr12:31903118-31904424	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:31903308-31904180	GM12892	blood:	n/a	n/a
43	CHD1	chr12:31903052-31904416	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:31903427-31903934	GM12878	blood:	n/a	n/a
45	SMC3	chr12:31903221-31903860	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:31903341-31903698	GM12891	blood:	n/a	n/a
47	RFX5	chr12:31903472-31903802	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:31897495..31899611-chr12:31901750..31904156,2	MCF-7	breast:
2	chr12:31866804..31870237-chr12:31900678..31903673,4	K562	blood:
3	chr12:31884351..31886609-chr12:31902358..31904418,2	MCF-7	breast:
4	chr12:31883178..31885919-chr12:31902028..31904052,3	K562	blood:
5	chr12:31902284..31904041-chr12:31909797..31911614,2	K562	blood:
6	chr12:31901665..31904041-chr12:31908599..31911297,2	K562	blood:
7	chr12:31902147..31904881-chr12:32110992..32113730,2	MCF-7	breast:
8	chr12:31880350..31888706-chr12:31898122..31903847,15	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-1	chr12:31903114-31904287	XLOC_010043

No data

Variant related genes	Relation type
ENSG00000256843	TF binding region
ENSG00000223722	TF binding region
ENSG00000174718	Chromatin interaction
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11051556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051558	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051560	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051561	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051562	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051564	1.00[CEU][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051565	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11611575	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs11613702	0.83[EUR][1000 genomes]
rs34841509	0.87[EUR][1000 genomes]
rs36117515	0.89[EUR][1000 genomes]
rs4931552	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4931555	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307184	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73090346	0.85[EUR][1000 genomes]
rs73090395	0.97[EUR][1000 genomes]
rs7312417	0.97[EUR][1000 genomes]
rs7954012	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954275	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7964078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964389	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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 target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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 target site	24 gene(s)	inside rSNPs	diseases
6	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
13	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv558102	chr12:31889824-31907409	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv975473	chr12:31895430-31908180	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv8940	chr12:31899904-31987363	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv442261	chr12:31900550-31909906	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	esv2421936	chr12:31900550-31909908	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	esv2760910	chr12:31900550-31909908	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv558103	chr12:31900550-31909908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv558104	chr12:31900550-31910908	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv558105	chr12:31900550-31912588	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv558106	chr12:31900550-31914143	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv558107	chr12:31900550-31919188	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31889400-31905800	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:31893600-31905800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:31896200-31903600	Weak transcription	Fetal Kidney	kidney
4	chr12:31896200-31903600	Weak transcription	Small Intestine	intestine
5	chr12:31899400-31903600	Weak transcription	Lung	lung
6	chr12:31899600-31905200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:31900000-31903600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:31900000-31905200	Weak transcription	Primary T cells from cord blood	blood
9	chr12:31900000-31905800	Enhancers	Primary B cells from cord blood	blood
10	chr12:31900000-31906400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:31901000-31903600	Weak transcription	Colonic Mucosa	Colon
12	chr12:31901000-31909800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:31901400-31904400	Enhancers	HepG2	liver
14	chr12:31901600-31903600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:31901800-31905600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:31901800-31905800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:31902000-31904600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:31902400-31903600	Weak transcription	Thymus	Thymus
19	chr12:31902400-31903600	Weak transcription	NHLF	lung
20	chr12:31902400-31904000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:31902400-31904200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:31902400-31905400	Weak transcription	Adipose Nuclei	Adipose
23	chr12:31902600-31903600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:31902600-31903600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:31902600-31903600	Weak transcription	Placenta	Placenta
26	chr12:31902600-31903800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:31902600-31904000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:31902600-31904000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:31902600-31904400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:31902600-31904400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:31902600-31904400	Enhancers	K562	blood
32	chr12:31902600-31904800	Enhancers	HUVEC	blood vessel
33	chr12:31902600-31905200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr12:31902600-31905200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:31902600-31905200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:31902600-31905200	Weak transcription	HSMMtube	muscle
37	chr12:31902600-31905400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:31902600-31906400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:31902600-31908600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:31902600-31908600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:31902600-31912800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:31902800-31904200	Enhancers	Hela-S3	cervix
43	chr12:31902800-31904400	Enhancers	A549	lung
44	chr12:31903000-31903800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr12:31903000-31904400	Flanking Active TSS	GM12878-XiMat	blood
46	chr12:31903000-31904800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr12:31903000-31904800	Enhancers	Dnd41	blood
48	chr12:31903200-31903600	Enhancers	NH-A	brain
49	chr12:31903200-31903800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr12:31903200-31903800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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