Variant report

Variant	rs6937531
Chromosome Location	chr6:144334195-144334196
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:144334132-144335189	SK-N-SH	brain:	n/a	n/a
2	SMC3	chr6:144333829-144335298	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr6:144334104-144335126	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:144262965..144264005-chr6:144332999..144335668,24	MCF-7	breast:
2	chr6:144261338..144263476-chr6:144332649..144334229,2	K562	blood:
3	chr6:144328273..144330730-chr6:144332408..144334974,3	MCF-7	breast:
4	chr6:144326477..144330280-chr6:144332409..144334631,4	K562	blood:
5	chr6:144020099..144020600-chr6:144334156..144334754,2	K562	blood:

No data

Variant related genes	Relation type
PLAGL1	TF binding region
ENSG00000118495	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11155339	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11754802	0.90[CHB][hapmap]
rs11759634	0.96[ASN][1000 genomes]
rs12524155	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12528481	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281476	0.84[ASW][hapmap];1.00[CEU][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28364590	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55769736	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56360488	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59090158	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6937128	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73006291	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773278	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9766199	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5516	chr6:144300321-144345812	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6937531	STX11	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144330000-144334600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:144330000-144334800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr6:144330000-144338200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:144330000-144340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:144330200-144334200	Weak transcription	Fetal Kidney	kidney
6	chr6:144330200-144334600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:144330200-144338000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:144333000-144334200	Enhancers	Fetal Muscle Leg	muscle
9	chr6:144333000-144335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:144333600-144334400	Enhancers	Osteobl	bone
11	chr6:144333600-144335000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:144333800-144334600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:144333800-144334600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:144333800-144335000	Enhancers	Adipose Nuclei	Adipose
15	chr6:144334000-144334800	Enhancers	NHDF-Ad	bronchial

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