Variant report

Variant	rs10807172
Chromosome Location	chr6:36667883-36667884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36561573..36563528-chr6:36666285..36668118,2	K562	blood:
2	chr6:36560848..36563528-chr6:36666618..36669519,2	K562	blood:
3	chr6:36650062..36652279-chr6:36667260..36670117,2	MCF-7	breast:
4	chr6:36576769..36579207-chr6:36667077..36668814,2	K562	blood:
5	chr6:36658841..36660500-chr6:36665313..36667930,3	MCF-7	breast:
6	chr6:36665939..36668161-chr6:36669239..36671316,2	MCF-7	breast:
7	chr6:36650715..36656032-chr6:36664945..36667924,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112081	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10947624	0.86[AMR][1000 genomes]
rs12526877	0.86[AMR][1000 genomes]
rs12526889	0.86[AMR][1000 genomes]
rs12528085	0.84[CEU][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes]
rs1894559	0.91[MEX][hapmap];0.86[AMR][1000 genomes]
rs2395659	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6457941	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6457942	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6905861	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6906101	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];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928344	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9394372	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9394375	0.84[CEU][hapmap];0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885808	chr6:36659932-36684518	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3343209	chr6:36663774-36668072	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10807172	SRSF3	cis	parietal	SCAN
rs10807172	FLJ43093	cis	multi-tissue	Pritchard
rs10807172	RNF8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36655000-36672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:36655200-36669400	Weak transcription	Gastric	stomach
3	chr6:36661200-36668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:36661400-36696400	Weak transcription	Right Atrium	heart
5	chr6:36664800-36668600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:36665400-36669400	Weak transcription	Spleen	Spleen
7	chr6:36666000-36669000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:36666600-36670800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:36666600-36671000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr6:36666800-36668000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:36666800-36670000	Enhancers	Primary B cells from cord blood	blood
12	chr6:36667000-36668600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:36667000-36669000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:36667000-36671400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:36667400-36668400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:36667400-36668400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:36667600-36668600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:36667600-36669800	Enhancers	Stomach Mucosa	stomach
19	chr6:36667800-36668400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:36667800-36670200	Weak transcription	Fetal Intestine Large	intestine

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