Variant report

Variant	rs34460545
Chromosome Location	chr1:245955177-245955178
allele	C/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	STAT5A	chr1:245954919-245955372	K562	blood:	n/a	chr1:245955145-245955157
2	HCFC1	chr1:245955150-245955254	K562	blood:	n/a	n/a
3	ARID3A	chr1:245955072-245955365	K562	blood:	n/a	n/a
4	EP300	chr1:245954462-245955639	SK-N-SH	brain:	n/a	chr1:245954620-245954629
5	CEBPD	chr1:245955011-245955412	K562	blood:	n/a	n/a
6	RAD21	chr1:245954567-245955449	SK-N-SH_RA	brain:	n/a	n/a
7	HDAC2	chr1:245954986-245955277	K562	blood:	n/a	chr1:245955125-245955139
8	HMGN3	chr1:245954985-245955221	K562	blood:	n/a	n/a
9	MAFF	chr1:245955066-245955708	K562	blood:	n/a	n/a
10	SIN3AK20	chr1:245954725-245955371	SK-N-SH	brain:	n/a	n/a
11	EP300	chr1:245954464-245955608	SK-N-SH	brain:	n/a	chr1:245954620-245954629
12	GATA2	chr1:245954358-245956134	SH-SY5Y	brain:	n/a	chr1:245955697-245955709 chr1:245955096-245955107 chr1:245955699-245955707
13	MYC	chr1:245954995-245955335	K562	blood:	n/a	n/a
14	MEF2A	chr1:245954986-245955467	K562	blood:	n/a	chr1:245955238-245955253 chr1:245955239-245955254
15	EP300	chr1:245954542-245955465	SK-N-SH_RA	brain:	n/a	chr1:245954620-245954629
16	JUND	chr1:245955006-245955372	K562	blood:	n/a	n/a
17	RAD21	chr1:245954585-245955465	SK-N-SH_RA	brain:	n/a	n/a
18	CCNT2	chr1:245954882-245955315	K562	blood:	n/a	n/a
19	MEF2A	chr1:245955080-245955368	K562	blood:	n/a	chr1:245955238-245955253 chr1:245955239-245955254
20	POLR2A	chr1:245952940-245955476	K562	blood:	n/a	n/a
21	TCF12	chr1:245953600-245956043	SK-N-SH	brain:	n/a	n/a
22	MEF2A	chr1:245954824-245955635	SK-N-SH	brain:	n/a	chr1:245955238-245955253 chr1:245955239-245955254
23	USF1	chr1:245954848-245955360	K562	blood:	n/a	n/a
24	USF1	chr1:245954712-245955307	SK-N-SH_RA	brain:	n/a	n/a
25	MAZ	chr1:245954975-245955315	K562	blood:	n/a	n/a
26	PBX3	chr1:245954507-245955965	SK-N-SH	brain:	n/a	n/a
27	TAL1	chr1:245954964-245955361	K562	blood:	n/a	chr1:245955211-245955226 chr1:245955211-245955226
28	EP300	chr1:245954561-245955489	SK-N-SH_RA	brain:	n/a	chr1:245954620-245954629
29	CUX1	chr1:245955037-245955406	K562	blood:	n/a	n/a
30	IRF1	chr1:245955051-245955426	K562	blood:	n/a	n/a
31	TEAD4	chr1:245954915-245955429	K562	blood:	n/a	n/a
32	USF1	chr1:245954707-245955283	SK-N-SH_RA	brain:	n/a	n/a
33	RCOR1	chr1:245955042-245955366	K562	blood:	n/a	n/a
34	MAFK	chr1:245955067-245955243	K562	blood:	n/a	n/a
35	TRIM28	chr1:245954979-245955248	K562	blood:	n/a	chr1:245955092-245955100
36	PBX3	chr1:245954614-245955585	SK-N-SH	brain:	n/a	n/a
37	TEAD4	chr1:245954643-245955446	SK-N-SH	brain:	n/a	n/a
38	BHLHE40	chr1:245955032-245955320	K562	blood:	n/a	n/a
39	TBL1XR1	chr1:245955008-245955371	K562	blood:	n/a	n/a
40	FOXM1	chr1:245954531-245955558	SK-N-SH	brain:	n/a	n/a
41	MAX	chr1:245954658-245955428	SK-N-SH	brain:	n/a	n/a
42	USF1	chr1:245954767-245955365	SK-N-SH	brain:	n/a	n/a
43	TCF12	chr1:245954381-245955588	SK-N-SH	brain:	n/a	n/a
44	GATA2	chr1:245954988-245955379	K562	blood:	n/a	chr1:245955096-245955107
45	NR2F2	chr1:245954957-245955235	K562	blood:	n/a	chr1:245955044-245955059
46	PML	chr1:245954993-245955384	K562	blood:	n/a	chr1:245955092-245955100
47	FOXM1	chr1:245954508-245955738	SK-N-SH	brain:	n/a	n/a
48	MEF2A	chr1:245954834-245955544	SK-N-SH	brain:	n/a	chr1:245955238-245955253 chr1:245955239-245955254
49	IRF1	chr1:245954823-245955487	K562	blood:	n/a	n/a
50	POLR2A	chr1:245954336-245955899	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:245955103..245956955-chr1:245958700..245960515,2	K562	blood:
2	chr1:245945508..245948096-chr1:245953816..245955948,2	K562	blood:
3	chr1:245946341..245948096-chr1:245954094..245955948,2	K562	blood:

Variant related genes	Relation type
SMYD3	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35674918	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007728	chr1:245235174-246156455	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv497871	chr1:245706209-246655353	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv534412	chr1:245747724-246655416	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1003594	chr1:245801793-246649329	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1004412	chr1:245830921-246169054	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535385	chr1:245830921-246169054	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer 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
7	nsv873404	chr1:245850095-245964511	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1006103	chr1:245881486-245968405	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv998007	chr1:245884759-245989362	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv949722	chr1:245898622-245997919	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv1011255	chr1:245913512-246065050	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv468794	chr1:245914284-245999838	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv549520	chr1:245914284-245999838	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv998801	chr1:245924108-246131115	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv535386	chr1:245924108-246131115	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1014841	chr1:245936464-246143222	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv535387	chr1:245936464-246143222	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1004993	chr1:245940334-245960376	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv1008786	chr1:245948622-246514454	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv535388	chr1:245948622-246514454	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv468805	chr1:245950642-246229245	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv549521	chr1:245950642-246229245	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:245932000-245966200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:245949200-245961400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:245949200-245999600	Weak transcription	Gastric	stomach
4	chr1:245951400-245955200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:245951600-245955600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:245952000-245970400	Weak transcription	Aorta	Aorta
7	chr1:245953000-245955200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:245954400-245956600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:245954600-245955200	Enhancers	K562	blood
10	chr1:245954600-245955400	Enhancers	Fetal Heart	heart
11	chr1:245954800-245955400	Enhancers	Fetal Lung	lung
12	chr1:245955000-245964000	Weak transcription	Osteobl	bone

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