Variant report

Variant	rs7120067
Chromosome Location	chr11:102064834-102064835
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10750634	0.84[GIH][hapmap]
rs10895272	0.83[ASW][hapmap];0.86[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10895273	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10895274	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10895275	0.85[EUR][1000 genomes]
rs10895276	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs10895277	0.86[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10895278	0.86[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11225156	0.91[CEU][hapmap];0.94[YRI][hapmap];0.86[EUR][1000 genomes]
rs11225160	0.95[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11225163	0.95[CEU][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11225165	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11225167	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11225169	0.85[MEX][hapmap]
rs11225170	0.82[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11225174	0.86[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11225177	0.80[ASN][1000 genomes]
rs11602707	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11605954	0.95[CEU][hapmap];0.92[GIH][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs11608234	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12223991	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12226331	0.95[CEU][hapmap];0.84[GIH][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs12420287	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12421242	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12786272	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12787996	0.91[CEU][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]
rs12790399	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12793501	0.83[EUR][1000 genomes]
rs12795624	0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12807220	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17097475	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs17097547	0.86[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17097560	0.86[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1820455	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1893498	0.91[ASW][hapmap];0.95[CEU][hapmap];0.92[GIH][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes]
rs2187525	0.95[CEU][hapmap];0.92[GIH][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs2282652	0.86[CEU][hapmap];0.90[CHB][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3858420	0.86[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs4447144	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs4475891	0.86[CEU][hapmap];0.81[GIH][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs4561174	0.81[ASW][hapmap]
rs4754041	0.88[EUR][1000 genomes]
rs4754833	0.94[GIH][hapmap]
rs57027482	0.83[ASN][1000 genomes]
rs58751289	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7106107	0.86[MEX][hapmap]
rs7107909	0.80[MEX][hapmap]
rs7110355	0.80[MEX][hapmap]
rs7110557	0.95[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7122907	0.86[CEU][hapmap];0.90[CHB][hapmap];0.83[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7124247	0.81[EUR][1000 genomes]
rs7931576	0.86[CEU][hapmap];0.87[JPT][hapmap];0.83[EUR][1000 genomes]
rs7942061	0.84[EUR][1000 genomes]
rs8504	0.86[CEU][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs948737	0.94[GIH][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	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7120067	C11orf70	cis	parietal	SCAN
rs7120067	CASP1	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102029200-102067600	Weak transcription	HSMMtube	muscle
2	chr11:102034600-102076800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:102036000-102069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:102043800-102077000	Weak transcription	Esophagus	oesophagus
5	chr11:102043800-102100400	Weak transcription	Pancreas	Pancrea
6	chr11:102046800-102076600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:102048400-102065200	Weak transcription	Aorta	Aorta
8	chr11:102048400-102073600	Weak transcription	Psoas Muscle	Psoas
9	chr11:102048400-102077200	Weak transcription	Lung	lung
10	chr11:102050400-102076600	Weak transcription	Placenta	Placenta
11	chr11:102051400-102076600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:102052000-102076600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:102056000-102078400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:102056200-102074800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:102057200-102066800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:102057800-102065600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:102058000-102066000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:102058200-102065600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:102058200-102066000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:102058200-102066000	Weak transcription	Hela-S3	cervix
21	chr11:102058200-102067000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:102058200-102076800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:102058600-102065000	Weak transcription	NH-A	brain
24	chr11:102058600-102068200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:102058800-102065600	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:102058800-102067200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:102059200-102067600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:102059600-102065000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:102059600-102065000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:102059600-102065000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:102059600-102065200	Enhancers	Fetal Lung	lung
32	chr11:102059600-102068800	Weak transcription	Fetal Kidney	kidney
33	chr11:102059600-102100400	Weak transcription	Gastric	stomach
34	chr11:102060000-102065000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:102061200-102065000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:102061400-102073400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:102062400-102065000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:102062800-102065200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:102062800-102065600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:102062800-102076600	Weak transcription	Fetal Stomach	stomach
41	chr11:102062800-102076600	Weak transcription	Left Ventricle	heart
42	chr11:102062800-102096400	Weak transcription	Small Intestine	intestine
43	chr11:102063000-102065400	Enhancers	HepG2	liver
44	chr11:102063000-102067600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:102063000-102076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:102063200-102065600	Weak transcription	Fetal Intestine Small	intestine
47	chr11:102063200-102066400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr11:102063200-102066800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:102063200-102067200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:102063200-102069800	Strong transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links