Variant report

Variant	rs12887254
Chromosome Location	chr14:38673264-38673265
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	CHD2	chr14:38670042-38674960	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:38673226-38673340	MCF10A-Er-Src	breast:	n/a	n/a
3	CREB1	chr14:38673059-38673611	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr14:38673200-38674685	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr14:38672845-38674729	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr14:38669513-38675066	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr14:38672998-38673743	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr14:38665325-38679673	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr14:38672959-38673486	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr14:38672835-38673806	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP4	chr14:38672790-38674587	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:38664557-38679159	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr14:38672948-38674300	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr14:38672917-38674321	H1-hESC	embryonic stem cell:	n/a	chr14:38673760-38673768 chr14:38673619-38673628 chr14:38673514-38673523 chr14:38673760-38673769 chr14:38673759-38673769 chr14:38673758-38673769 chr14:38673758-38673770 chr14:38673761-38673768
15	NRF1	chr14:38672811-38674761	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAFK	chr14:38673158-38674360	H1-hESC	embryonic stem cell:	n/a	chr14:38673761-38673770 chr14:38673323-38673334 chr14:38673323-38673334 chr14:38673324-38673335
17	JUND	chr14:38673029-38673552	H1-hESC	embryonic stem cell:	n/a	chr14:38673514-38673523
18	TAF7	chr14:38672930-38673735	H1-hESC	embryonic stem cell:	n/a	n/a
19	FOSL1	chr14:38672998-38673336	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr14:38670023-38675096	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr14:38672921-38675037	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SSTR1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12887630	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889769	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896889	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35023414	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916985	chr14:38052347-38838551	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
2	nsv533235	chr14:38558180-39117391	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832773	chr14:38612778-38785003	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38669000-38674200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:38669400-38675600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:38670000-38674200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:38670600-38673800	Strong transcription	Right Atrium	heart
5	chr14:38670800-38674200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:38670800-38676400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:38671000-38675200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:38672000-38673400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:38672000-38674400	Weak transcription	Stomach Mucosa	stomach
10	chr14:38672800-38676000	Enhancers	Hela-S3	cervix
11	chr14:38673000-38673400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:38673200-38673400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr14:38673200-38673400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:38673200-38673400	Enhancers	Aorta	Aorta
15	chr14:38673200-38673800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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