Variant report

Variant	rs597626
Chromosome Location	chr11:66316557-66316558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66315938..66318857-chr11:66333245..66335389,2	K562	blood:
2	chr11:66315799..66318401-chr11:66320037..66321608,2	K562	blood:
3	chr11:66313928..66316895-chr11:66444565..66446585,2	K562	blood:
4	chr11:66311878..66315000-chr11:66316510..66320252,4	MCF-7	breast:
5	chr11:66315668..66317574-chr11:66383006..66385461,2	MCF-7	breast:
6	chr11:66276681..66279418-chr11:66315413..66317207,2	MCF-7	breast:
7	chr11:66315618..66318263-chr11:66344654..66346591,2	K562	blood:
8	chr11:66311617..66317579-chr11:66325496..66333927,8	MCF-7	breast:
9	chr11:66275895..66278516-chr11:66316145..66318842,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174080	Chromatin interaction
ENSG00000239306	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000250105	Chromatin interaction
ENSG00000256349	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000174483	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1791679	0.83[AFR][1000 genomes]
rs1791690	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1945302	0.83[AFR][1000 genomes]
rs2511217	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511224	0.88[ASW][hapmap];0.84[MKK][hapmap];0.92[YRI][hapmap]
rs484262	0.82[LWK][hapmap]
rs490998	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610293	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs679228	0.86[ASN][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	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
4	nsv897787	chr11:66300348-66347850	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs597626	C11orf80	cis	cerebellum	SCAN
rs597626	ESRRA	cis	cerebellum	SCAN
rs597626	ACTN3	cis	Muscle Skeletal	GTEx
rs597626	GAL	cis	parietal	SCAN
rs597626	GNG3	cis	cerebellum	SCAN
rs597626	SNORD22	cis	parietal	SCAN
rs597626	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs597626	EEF1G	cis	cerebellum	SCAN
rs597626	BAD	cis	parietal	SCAN
rs597626	LRFN4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66314200-66316600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66314200-66321400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:66314400-66320400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:66314400-66327000	Weak transcription	Right Atrium	heart
5	chr11:66314600-66317000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr11:66314800-66316800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:66314800-66326600	Weak transcription	Psoas Muscle	Psoas
8	chr11:66315000-66316800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:66315200-66317000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:66315400-66316800	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr11:66315400-66323600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:66315600-66316600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:66315600-66316600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:66315600-66316800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr11:66315600-66316800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:66315600-66316800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:66315800-66316600	Enhancers	HSMMtube	muscle
18	chr11:66316200-66316600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:66316200-66316800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:66316200-66316800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:66316200-66316800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:66316200-66317000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:66316200-66323000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:66316400-66316600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:66316400-66316600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:66316400-66316600	Enhancers	Fetal Muscle Leg	muscle
27	chr11:66316400-66316600	Enhancers	Lung	lung
28	chr11:66316400-66316600	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr11:66316400-66316800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr11:66316400-66325200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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