Variant report

Variant	rs12131915
Chromosome Location	chr1:180878163-180878164
allele	A/C
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	RELA	chr1:180877751-180879323	GM19099	blood:	n/a	n/a
2	TBP	chr1:180878141-180879124	GM12878	blood:	n/a	n/a
3	MTA3	chr1:180878064-180878564	GM12878	blood:	n/a	n/a
4	EP300	chr1:180877970-180879024	GM12878	blood:	n/a	chr1:180877980-180877990
5	CHD2	chr1:180878046-180879133	GM12878	blood:	n/a	n/a
6	RELA	chr1:180878072-180879213	GM19193	blood:	n/a	n/a
7	RCOR1	chr1:180877775-180879188	GM12878	blood:	n/a	n/a
8	EP300	chr1:180877974-180879150	GM12878	blood:	n/a	chr1:180877980-180877990
9	BHLHE40	chr1:180878088-180879065	GM12878	blood:	n/a	n/a
10	CTCF	chr1:180878107-180878172	GM19239	blood:	n/a	n/a
11	EBF1	chr1:180878042-180878369	GM12878	blood:	n/a	n/a
12	SPI1	chr1:180878122-180878959	GM12878	blood:	n/a	chr1:180878925-180878934 chr1:180878926-180878933 chr1:180878922-180878935
13	ZEB1	chr1:180878110-180878491	GM12878	blood:	n/a	chr1:180878276-180878285
14	IKZF1	chr1:180878023-180879079	GM12878	blood:	n/a	n/a
15	RELA	chr1:180877615-180879264	GM18951	blood:	n/a	n/a
16	RUNX3	chr1:180878031-180878631	GM12878	blood:	n/a	n/a
17	WRNIP1	chr1:180877682-180879385	GM12878	blood:	n/a	n/a
18	MAZ	chr1:180878018-180879152	GM12878	blood:	n/a	n/a
19	BATF	chr1:180878077-180878449	GM12878	blood:	n/a	n/a
20	RELA	chr1:180878121-180879004	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180855821..180859018-chr1:180875717..180879005,3	MCF-7	breast:
2	chr1:180873512..180876781-chr1:180876890..180880881,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA1614-1	chr1:180878009-180878302	ENSG00000225857
2	lnc-KIAA1614-1	chr1:180878158-180879637	NONHSAT008270

Variant related genes	Relation type
KIAA1614	TF binding region
ENSG00000143324	Chromatin interaction
ENSG00000225857	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10914128	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12118635	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122997	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12123254	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6702006	0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
2	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
3	chr1:180861200-180880800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:180868000-180878600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:180868400-180878400	Weak transcription	Fetal Lung	lung
6	chr1:180868800-180879400	Weak transcription	Fetal Stomach	stomach
7	chr1:180868800-180880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:180868800-180881000	Weak transcription	Right Atrium	heart
9	chr1:180869600-180881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:180869800-180880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:180870800-180880600	Weak transcription	Brain Germinal Matrix	brain
12	chr1:180875000-180879800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:180877400-180878200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr1:180877600-180881200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:180877800-180878400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:180877800-180878600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:180877800-180878800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:180877800-180879200	Enhancers	Fetal Kidney	kidney
19	chr1:180878000-180878200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:180878000-180879200	Flanking Active TSS	GM12878-XiMat	blood

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