Variant report

Variant	rs73350831
Chromosome Location	chr12:74686519-74686520
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	ARID3A	chr12:74686394-74686740	K562	blood:	n/a	n/a
2	CBX3	chr12:74686218-74687007	K562	blood:	n/a	n/a
3	GTF2F1	chr12:74686271-74686914	K562	blood:	n/a	n/a
4	YY1	chr12:74686222-74687030	K562	blood:	n/a	n/a
5	ZMIZ1	chr12:74686183-74687117	K562	blood:	n/a	n/a
6	MAX	chr12:74686273-74688035	K562	blood:	n/a	n/a
7	TEAD4	chr12:74686035-74687029	K562	blood:	n/a	n/a
8	MAFF	chr12:74686499-74686599	K562	blood:	n/a	n/a
9	POLR2A	chr12:74686028-74688121	K562	blood:	n/a	n/a
10	RCOR1	chr12:74686080-74687004	K562	blood:	n/a	n/a
11	EP300	chr12:74686338-74686626	GM12878	blood:	n/a	n/a
12	E2F6	chr12:74686316-74686577	K562	blood:	n/a	n/a
13	SP1	chr12:74686322-74686747	K562	blood:	n/a	n/a
14	ELF1	chr12:74685989-74686952	K562	blood:	n/a	n/a
15	ZNF384	chr12:74686210-74687040	K562	blood:	n/a	n/a
16	SP1	chr12:74686345-74686758	H1-hESC	embryonic stem cell:	n/a	n/a
17	RFX5	chr12:74686456-74686941	K562	blood:	n/a	n/a
18	MAX	chr12:74685970-74687132	K562	blood:	n/a	n/a
19	CCNT2	chr12:74686228-74686909	K562	blood:	n/a	chr12:74686489-74686509
20	ZNF143	chr12:74686278-74686900	K562	blood:	n/a	n/a
21	POLR2A	chr12:74686102-74687130	K562	blood:	n/a	n/a
22	PML	chr12:74686140-74687062	K562	blood:	n/a	n/a
23	CTCF	chr12:74686287-74686725	K562	blood:	n/a	chr12:74686694-74686707
24	YY1	chr12:74686238-74686992	K562	blood:	n/a	n/a
25	REST	chr12:74686445-74686655	K562	blood:	n/a	n/a
26	JUN	chr12:74685969-74687943	K562	blood:	n/a	chr12:74687564-74687572 chr12:74686993-74687004 chr12:74686577-74686587 chr12:74686576-74686588 chr12:74686577-74686587 chr12:74687084-74687093 chr12:74687564-74687571 chr12:74686578-74686586 chr12:74686577-74686587
27	ZBTB7A	chr12:74686156-74686529	K562	blood:	n/a	n/a
28	MAX	chr12:74686048-74686654	K562	blood:	n/a	n/a
29	POLR2A	chr12:74686190-74686981	K562	blood:	n/a	n/a
30	POLR2A	chr12:74685969-74687088	K562	blood:	n/a	n/a
31	GABPA	chr12:74685988-74687089	K562	blood:	n/a	n/a
32	NR2F2	chr12:74686292-74686995	K562	blood:	n/a	n/a
33	E2F6	chr12:74686105-74688198	K562	blood:	n/a	chr12:74686687-74686697 chr12:74688111-74688118
34	POLR2A	chr12:74686119-74687050	K562	blood:	n/a	n/a
35	TEAD4	chr12:74686256-74687110	K562	blood:	n/a	n/a
36	HEY1	chr12:74686123-74687026	K562	blood:	n/a	n/a
37	CUX1	chr12:74686395-74686762	K562	blood:	n/a	n/a
38	CEBPD	chr12:74686172-74686749	K562	blood:	n/a	n/a
39	POLR2A	chr12:74686001-74688169	K562	blood:	n/a	n/a
40	HMGN3	chr12:74686025-74686840	K562	blood:	n/a	n/a
41	MYC	chr12:74686418-74686639	K562	blood:	n/a	n/a
42	MYC	chr12:74686021-74688231	K562	blood:	n/a	n/a
43	UBTF	chr12:74686014-74687038	K562	blood:	n/a	n/a
44	REST	chr12:74686485-74687008	K562	blood:	n/a	n/a
45	ZBTB7A	chr12:74686068-74686687	K562	blood:	n/a	n/a
46	POLR2A	chr12:74686048-74687069	K562	blood:	n/a	n/a
47	POLR2A	chr12:74686124-74687073	K562	blood:	n/a	n/a
48	RCOR1	chr12:74686183-74686755	K562	blood:	n/a	n/a
49	TRIM28	chr12:74686185-74686777	K562	blood:	n/a	n/a
50	TAF1	chr12:74686155-74687005	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:74685273..74687304-chrX:26574250..26577248,2	K562	blood:
2	chr12:74686465..74688529-chr12:74932040..74934610,2	K562	blood:
3	chr12:74683373..74686280-chr12:74686483..74688021,2	K562	blood:

Variant related genes	Relation type
ENSG00000251138	TF binding region
ENSG00000257386	Chromatin interaction
ENSG00000259849	Chromatin interaction
ENSG00000230265	Chromatin interaction
ENSG00000257364	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11179992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12297255	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12302817	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305113	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306390	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12578377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35750153	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4267148	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57440060	0.91[EUR][1000 genomes]
rs59396219	0.91[EUR][1000 genomes]
rs60261359	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60385205	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61521825	1.00[EUR][1000 genomes]
rs61565748	0.81[EUR][1000 genomes]
rs6582211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350843	0.93[ASN][1000 genomes]
rs74105228	0.81[EUR][1000 genomes]
rs74105240	1.00[EUR][1000 genomes]
rs74106707	0.81[EUR][1000 genomes]
rs74106715	0.81[EUR][1000 genomes]
rs7964864	0.93[ASN][1000 genomes]
rs7965997	0.93[ASN][1000 genomes]
rs7974667	0.81[EUR][1000 genomes]
rs7979150	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1047574	chr12:74599663-74687663	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv469472	chr12:74651797-74690292	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv559411	chr12:74651797-74690292	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv899290	chr12:74666737-74729489	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv469473	chr12:74676381-74712896	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv559412	chr12:74676381-74712896	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv523765	chr12:74680999-74749476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74681400-74690800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:74684800-74686800	Active TSS	K562	blood
3	chr12:74685600-74688000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:74686000-74687600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:74686200-74687000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:74686200-74688000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:74686400-74687800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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