Variant report

Variant	rs1060574
Chromosome Location	chr11:5528633-5528634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:5528540-5528690	HepG2	liver:	n/a	n/a
2	CTCF	chr11:5528520-5528670	GM12874	blood:	n/a	n/a
3	CTCF	chr11:5528371-5528767	K562	blood:	n/a	n/a
4	CTCF	chr11:5528500-5528650	HCT-116	colon:	n/a	n/a
5	CTCF	chr11:5528570-5528636	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr11:5528500-5528650	HEK293	kidney:	n/a	n/a
7	CTCF	chr11:5528500-5528650	GM12868	blood:	n/a	n/a
8	CTCF	chr11:5528432-5528732	K562	blood:	n/a	n/a
9	CTCF	chr11:5528520-5528670	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr11:5528540-5528690	GM12865	blood:	n/a	n/a
11	CTCF	chr11:5528540-5528690	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr11:5528507-5528706	K562	blood:	n/a	n/a
13	CTCF	chr11:5528540-5528690	GM06990	blood:	n/a	n/a
14	RAD21	chr11:5528496-5528678	K562	blood:	n/a	n/a
15	CTCF	chr11:5528419-5528798	K562	blood:	n/a	n/a
16	CTCF	chr11:5528579-5528676	ProgFib	skin:	n/a	n/a
17	CTCF	chr11:5528578-5528636	GM19238	blood:	n/a	n/a
18	CTCF	chr11:5528588-5528634	GM19239	blood:	n/a	n/a
19	CTCF	chr11:5528568-5528651	GM12878	blood:	n/a	n/a
20	CTCF	chr11:5528500-5528650	GM12878	blood:	n/a	n/a
21	CTCF	chr11:5528500-5528650	GM12864	blood:	n/a	n/a
22	CTCF	chr11:5528565-5528668	HepG2	liver:	n/a	n/a
23	CTCF	chr11:5528600-5528750	K562	blood:	n/a	n/a
24	CTCF	chr11:5528404-5528755	K562	blood:	n/a	n/a
25	CTCF	chr11:5528560-5528710	GM12873	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:5527266..5528874-chr11:5615782..5617363,2	K562	blood:
2	11:5033143-5038367..11:5527719-5533869	Hela-S3	cervix:
3	11:4988858-5002113..11:5527719-5533869	Hela-S3	cervix:
4	chr11:5526007..5528692-chr11:5548871..5550699,2	K562	blood:
5	chr11:5526297..5528707-chr11:5655729..5658397,2	K562	blood:
6	chr11:5523708..5530495-chr11:5543485..5554743,19	K562	blood:
7	chr11:5527022..5529491-chr11:5577103..5579456,2	K562	blood:
8	chr11:5495902..5498056-chr11:5528624..5530826,2	K562	blood:

No data

Variant related genes	Relation type
HBG2	TF binding region
ENSG00000167355	TF binding region
HBE1	TF binding region
ENSG00000225003	Chromatin interaction
ENSG00000249633	Chromatin interaction
ENSG00000258659	Chromatin interaction
ENSG00000121236	Chromatin interaction
ENSG00000224295	Chromatin interaction
ENSG00000224300	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11037866	0.83[CEU][hapmap];0.85[GIH][hapmap];0.83[EUR][1000 genomes]
rs317787	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv832057	chr11:5375585-5576200	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
4	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv467670	chr11:5506034-5550630	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv553240	chr11:5506034-5550630	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1060574	INS-IGF2	cis	parietal	SCAN
rs1060574	C11orf42	cis	cerebellum	SCAN
rs1060574	OR52K1	cis	parietal	SCAN
rs1060574	C11orf42	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5527400-5529200	Enhancers	K562	blood
2	chr11:5528200-5529800	Enhancers	Fetal Muscle Leg	muscle

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