Variant report

Variant	rs12794131
Chromosome Location	chr11:76456739-76456740
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:76445009..76450493-chr11:76452594..76458852,7	K562	blood:
2	chr11:76454654..76458636-chr11:76475295..76479345,4	MCF-7	breast:
3	chr11:76454033..76456801-chr11:76571027..76573144,2	K562	blood:
4	chr11:76455249..76457100-chr11:76493512..76497788,3	K562	blood:
5	chr11:76456730..76465168-chr11:76492668..76497012,7	K562	blood:
6	chr11:76455720..76457823-chr11:76458498..76460199,2	MCF-7	breast:
7	chr11:76451295..76455303-chr11:76456358..76459104,3	K562	blood:
8	chr11:76446403..76452318-chr11:76452779..76457589,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000078124	Chromatin interaction
ENSG00000254632	Chromatin interaction
ENSG00000182704	Chromatin interaction
ENSG00000255100	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11822653	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826943	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12362105	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12792283	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12798095	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12801851	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12802806	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17812296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28428842	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34885552	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35714835	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55698208	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55920167	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55933713	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56203693	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56224101	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56274763	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56335423	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57042533	0.94[ASN][1000 genomes]
rs57847352	0.94[ASN][1000 genomes]
rs60543719	0.94[ASN][1000 genomes]
rs61621849	0.94[ASN][1000 genomes]
rs7103917	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7108890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7122848	0.88[CHB][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7123238	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7943760	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7944011	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	esv1810781	chr11:76311021-76464814	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv1850014	chr11:76384895-76464814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv976471	chr11:76435262-76459660	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv430404	chr11:76436952-76462852	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76446400-76463200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:76447400-76458600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:76449200-76458000	Weak transcription	Fetal Brain Male	brain
4	chr11:76449400-76458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:76450400-76463400	Weak transcription	Right Ventricle	heart
6	chr11:76454000-76457000	Enhancers	Fetal Muscle Leg	muscle
7	chr11:76454400-76457200	Enhancers	Stomach Mucosa	stomach
8	chr11:76454400-76457600	Enhancers	Fetal Intestine Large	intestine
9	chr11:76454600-76457400	Enhancers	Fetal Intestine Small	intestine
10	chr11:76454800-76458600	Weak transcription	Spleen	Spleen
11	chr11:76454800-76459000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:76454800-76461000	Weak transcription	Hela-S3	cervix
13	chr11:76455200-76457200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:76455400-76456800	Enhancers	Adipose Nuclei	Adipose
15	chr11:76455400-76457000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:76455400-76457600	Enhancers	Fetal Heart	heart
17	chr11:76455600-76457000	Enhancers	Placenta	Placenta
18	chr11:76455600-76457200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:76455600-76457200	Enhancers	A549	lung
20	chr11:76455800-76456800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:76456000-76457000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:76456000-76457200	Bivalent Enhancer	HepG2	liver
23	chr11:76456200-76457000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:76456200-76458600	Weak transcription	Fetal Brain Female	brain
25	chr11:76456200-76463200	Weak transcription	NHDF-Ad	bronchial
26	chr11:76456400-76457000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:76456400-76457000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr11:76456400-76457000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:76456400-76457200	Enhancers	Right Atrium	heart
30	chr11:76456400-76457400	Enhancers	Colonic Mucosa	Colon
31	chr11:76456400-76457400	Flanking Active TSS	K562	blood
32	chr11:76456400-76457600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr11:76456400-76463400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:76456600-76456800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:76456600-76456800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:76456600-76457000	Enhancers	Gastric	stomach
37	chr11:76456600-76457200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:76456600-76457200	Enhancers	Left Ventricle	heart
39	chr11:76456600-76457200	Enhancers	Lung	lung
40	chr11:76456600-76462800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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