Variant report

Variant	rs757110
Chromosome Location	chr11:17418477-17418478
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17418305..17421610-chr11:17424187..17428054,3	K562	blood:

Variant related genes	Relation type
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1002226	0.81[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10734252	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10766392	0.81[CHB][hapmap]
rs10832778	0.82[CHB][hapmap]
rs1557765	0.88[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2051772	0.88[ASW][hapmap];0.81[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.84[GIH][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap]
rs2074310	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2074311	0.85[CHB][hapmap];0.87[CHD][hapmap];0.82[AMR][1000 genomes]
rs2074314	0.88[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214091	1.00[LWK][hapmap]
rs214105	1.00[LWK][hapmap]
rs4148646	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5213	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5215	0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5219	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7124355	1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs757081	1.00[LWK][hapmap]
rs7928810	0.88[ASW][hapmap];0.81[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap]

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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv540952	chr11:17407913-17422755	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs757110	SPTY2D1	cis	parietal	SCAN
rs757110	SAA4	cis	parietal	SCAN
rs757110	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs757110	GTF2H1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17411400-17422600	Weak transcription	Right Atrium	heart
2	chr11:17411800-17419000	Weak transcription	Brain Germinal Matrix	brain
3	chr11:17411800-17426000	Weak transcription	Lung	lung
4	chr11:17411800-17426000	Weak transcription	Pancreas	Pancrea
5	chr11:17411800-17426800	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:17411800-17426800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:17411800-17435000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:17413200-17432400	Weak transcription	Dnd41	blood
9	chr11:17413600-17419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:17413800-17420000	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr11:17414000-17421000	Strong transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:17415200-17418600	Strong transcription	Fetal Brain Female	brain
13	chr11:17416200-17423800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:17416400-17418600	Strong transcription	Brain Angular Gyrus	brain
15	chr11:17417400-17422800	Weak transcription	Brain Anterior Caudate	brain
16	chr11:17417800-17422600	Strong transcription	Brain Cingulate Gyrus	brain
17	chr11:17417800-17428200	Weak transcription	Gastric	stomach
18	chr11:17418200-17420600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:17418400-17418600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:17418400-17418600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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