Variant report

Variant	rs6731044
Chromosome Location	chr2:9982464-9982465
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:9982216-9985161	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:9981740..9985209-chr2:10182518..10185707,4	K562	blood:
2	chr2:9981933..9984802-chr2:10182812..10185710,3	K562	blood:
3	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
4	chr2:9901947..9904351-chr2:9980319..9983166,2	K562	blood:
5	chr2:9945778..9947307-chr2:9981778..9983371,2	K562	blood:
6	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
7	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
8	chr2:9981748..9983787-chr2:10179341..10181254,2	K562	blood:

No data

Variant related genes	Relation type
TAF1B	TF binding region
ENSG00000172059	Chromatin interaction
ENSG00000260077	Chromatin interaction
ENSG00000134317	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs11692193	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13008782	0.84[ASN][1000 genomes]
rs287972	1.00[ASN][1000 genomes]
rs287974	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs287986	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287987	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs287988	1.00[ASN][1000 genomes]
rs287992	1.00[ASN][1000 genomes]
rs287993	1.00[ASN][1000 genomes]
rs287994	1.00[ASN][1000 genomes]
rs287995	1.00[ASN][1000 genomes]
rs287996	1.00[ASN][1000 genomes]
rs287997	1.00[ASN][1000 genomes]
rs287999	1.00[ASN][1000 genomes]
rs382747	0.93[ASN][1000 genomes]
rs388570	1.00[ASN][1000 genomes]
rs447465	0.90[ASN][1000 genomes]
rs451412	0.93[ASN][1000 genomes]
rs514805	1.00[ASN][1000 genomes]
rs572907	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599798	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873627	chr2:9949464-9982608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv873628	chr2:9949464-9985670	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
8	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6731044	TAF1B	cis	Esophagus Muscularis	GTEx
rs6731044	TAF1B	cis	lung	GTEx
rs6731044	RP11-95D17.1	cis	lung	GTEx
rs6731044	TAF1B	cis	Nerve Tibial	GTEx
rs6731044	TAF1B	Cis_1M	lymphoblastoid	RTeQTL
rs6731044	TAF1B	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9955200-9983000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:9972600-9983000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:9977000-9983000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:9977200-9982600	Weak transcription	K562	blood
5	chr2:9977200-9983000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:9977200-9983000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:9977600-9983000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:9977600-9983000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:9977600-9983000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:9977800-9982600	Weak transcription	Hela-S3	cervix
11	chr2:9977800-9982800	Weak transcription	NHDF-Ad	bronchial
12	chr2:9977800-9983000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:9977800-9983000	Weak transcription	NHLF	lung
14	chr2:9978000-9982800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:9978000-9983000	Weak transcription	NHEK	skin
16	chr2:9979400-9982800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:9979800-9983000	Weak transcription	Placenta	Placenta
18	chr2:9981200-9983000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:9981600-9983000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:9982400-9982600	Enhancers	A549	lung
21	chr2:9982400-9982800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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