Variant report

Variant	rs7112925
Chromosome Location	chr11:66826160-66826161
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: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	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
2	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
3	chr11:66821404..66826403-chr11:66884710..66889541,16	MCF-7	breast:
4	chr11:66821897..66826528-chr11:67139094..67144065,11	MCF-7	breast:
5	chr11:66761490..66778711-chr11:66821814..66832221,36	MCF-7	breast:
6	chr11:66742629..66745347-chr11:66824215..66826383,2	MCF-7	breast:
7	chr11:66822610..66825104-chr11:66825846..66828264,2	K562	blood:
8	chr11:66825035..66827853-chr11:67026247..67029023,2	MCF-7	breast:
9	chr11:66822610..66825613-chr11:66825846..66829132,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252709	Chromatin interaction
ENSG00000173237	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000173227	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11227673	0.89[GIH][hapmap]
rs11602157	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287978	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282502	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3923203	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
3	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Height	20881960	GWAS catalog

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7112925	KLC2	cis	parietal	SCAN
rs7112925	BRMS1	cis	parietal	SCAN
rs7112925	RAB1B	cis	parietal	SCAN
rs7112925	CTSF	cis	parietal	SCAN
rs7112925	TRMT112	cis	parietal	SCAN
rs7112925	FGF3	cis	parietal	SCAN
rs7112925	CCS	cis	lymphoblastoid	seeQTL
rs7112925	PC	cis	parietal	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66823800-66826200	Weak transcription	K562	blood
2	chr11:66824800-66827800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:66825000-66828400	Enhancers	Left Ventricle	heart
4	chr11:66825000-66829600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:66825200-66826400	Weak transcription	A549	lung
6	chr11:66825200-66827200	Weak transcription	NH-A	brain
7	chr11:66825200-66827400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:66825200-66827400	Genic enhancers	Fetal Intestine Small	intestine
9	chr11:66825200-66832000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:66825200-66838800	Weak transcription	Spleen	Spleen
11	chr11:66825200-66841400	Weak transcription	Aorta	Aorta
12	chr11:66825200-66849200	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:66825400-66826200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:66825400-66826200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:66825400-66826200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:66825400-66826400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:66825400-66826800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:66825400-66827200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:66825400-66827200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:66825400-66827200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:66825400-66827400	Weak transcription	Osteobl	bone
22	chr11:66825400-66828600	Enhancers	Liver	Liver
23	chr11:66825400-66828800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:66825400-66833200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:66825400-66833800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:66825400-66838800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:66825400-66839000	Weak transcription	Lung	lung
28	chr11:66825400-66839000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr11:66825400-66839200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:66825400-66849400	Weak transcription	Ovary	ovary
31	chr11:66825600-66826200	Weak transcription	Pancreas	Pancrea
32	chr11:66825600-66827200	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:66825600-66828400	Enhancers	Placenta	Placenta
34	chr11:66825800-66826600	Active TSS	Esophagus	oesophagus
35	chr11:66825800-66831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:66826000-66826200	Enhancers	Stomach Mucosa	stomach
37	chr11:66826000-66826200	Flanking Active TSS	HMEC	breast
38	chr11:66826000-66826400	Flanking Active TSS	Hela-S3	cervix
39	chr11:66826000-66826600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:66826000-66826600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:66826000-66826600	Enhancers	Fetal Intestine Large	intestine
42	chr11:66826000-66826600	Enhancers	Gastric	stomach
43	chr11:66826000-66826600	Flanking Active TSS	NHEK	skin
44	chr11:66826000-66826800	Enhancers	Fetal Heart	heart
45	chr11:66826000-66827800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:66826000-66828200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:66826000-66828400	Enhancers	Right Atrium	heart
48	chr11:66826000-66828400	Enhancers	Right Ventricle	heart
49	chr11:66826000-66828600	Strong transcription	Fetal Stomach	stomach

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