Variant report

Variant	rs687672
Chromosome Location	chr11:65649984-65649985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65274736..65277553-chr11:65649720..65652648,2	K562	blood:
2	chr11:65482077..65483919-chr11:65649020..65651069,2	MCF-7	breast:
3	chr11:65478671..65480330-chr11:65648521..65651673,3	MCF-7	breast:
4	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172977	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175602	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 30 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10791830	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1151519	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1204650	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12225345	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2231884	1.00[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.85[EUR][1000 genomes]
rs2303385	0.94[ASW][hapmap];0.88[LWK][hapmap];0.87[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs507062	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs568617	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs583887	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs585557	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58568715	0.83[EUR][1000 genomes]
rs588114	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs596002	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs601863	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs608616	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs622614	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs625652	0.86[AFR][1000 genomes]
rs641018	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs645900	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656980	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs658524	1.00[ASW][hapmap];0.94[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs658938	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677931	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs693824	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs694994	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7940691	0.84[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv530622	chr11:65649068-65661361	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:30)

SNP	Gene	Cis/trans	Tissue	Source
rs687672	FIBP	Cis_1M	lymphoblastoid	RTeQTL
rs687672	CTSW	cis	Stomach	GTEx
rs687672	FIBP	cis	Artery Tibial	GTEx
rs687672	CTSW	cis	Skin Sun Exposed Lower leg	GTEx
rs687672	RBM4	cis	cerebellum	SCAN
rs687672	SNX32	cis	Esophagus Muscularis	GTEx
rs687672	FIBP	cis	parietal	SCAN
rs687672	CTSW	cis	Artery Tibial	GTEx
rs687672	RAB3IL1	cis	cerebellum	SCAN
rs687672	SNX32	cis	Artery Aorta	GTEx
rs687672	FIBP	cis	multi-tissue	Pritchard
rs687672	SNX32	cis	Nerve Tibial	GTEx
rs687672	FIBP	cis	lymphoblastoid	seeQTL
rs687672	RBM14	cis	parietal	SCAN
rs687672	SNX32	cis	cerebellum	SCAN
rs687672	CTSW	cis	Artery Aorta	GTEx
rs687672	CTSW	cis	Esophagus Mucosa	GTEx
rs687672	SNX32	cis	Esophagus Mucosa	GTEx
rs687672	FIBP	cis	Heart Left Ventricle	GTEx
rs687672	SNX32	cis	parietal	SCAN
rs687672	CTSW	cis	Thyroid	GTEx
rs687672	CTSW	Cis_1M	lymphoblastoid	RTeQTL
rs687672	SNX32	cis	Thyroid	GTEx
rs687672	CTSW	cis	Esophagus Muscularis	GTEx
rs687672	CTSW	cis	lung	GTEx
rs687672	SNX32	cis	Artery Tibial	GTEx
rs687672	CTSW	cis	Whole Blood	GTEx
rs687672	CTSW	cis	lymphoblastoid	seeQTL
rs687672	CTSW	cis	Nerve Tibial	GTEx
rs687672	SNX32	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65641000-65654400	Weak transcription	Fetal Heart	heart
2	chr11:65641400-65650000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:65641400-65650000	Weak transcription	Aorta	Aorta
4	chr11:65641400-65650000	Weak transcription	A549	lung
5	chr11:65641400-65650400	Weak transcription	Fetal Kidney	kidney
6	chr11:65641400-65650400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:65641400-65650600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:65641400-65651000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:65641400-65654000	Weak transcription	Small Intestine	intestine
10	chr11:65641600-65650000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:65641600-65650000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:65641600-65650000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:65641600-65650000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:65641600-65650000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:65641600-65650000	Weak transcription	Colonic Mucosa	Colon
16	chr11:65641600-65650000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:65641600-65650000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:65641600-65650000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:65641600-65650000	Weak transcription	NHDF-Ad	bronchial
20	chr11:65641600-65650200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:65641600-65650200	Weak transcription	Liver	Liver
22	chr11:65641600-65650400	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:65641600-65651000	Weak transcription	Left Ventricle	heart
24	chr11:65641600-65651000	Weak transcription	Hela-S3	cervix
25	chr11:65641600-65651200	Weak transcription	Psoas Muscle	Psoas
26	chr11:65641600-65655000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr11:65641600-65655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:65641600-65655000	Weak transcription	Right Atrium	heart
29	chr11:65641800-65651000	Weak transcription	Stomach Mucosa	stomach
30	chr11:65646000-65651000	Weak transcription	K562	blood
31	chr11:65646400-65650200	Weak transcription	HepG2	liver
32	chr11:65647200-65652000	Strong transcription	Fetal Stomach	stomach
33	chr11:65647400-65650000	Weak transcription	Fetal Lung	lung
34	chr11:65647400-65650000	Weak transcription	Dnd41	blood
35	chr11:65647400-65652000	Strong transcription	Fetal Intestine Small	intestine
36	chr11:65647800-65650000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:65648200-65651200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:65648200-65651800	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr11:65648600-65651600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr11:65648600-65651800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:65648600-65652200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:65648800-65650200	Weak transcription	Primary B cells from cord blood	blood
43	chr11:65648800-65651200	Strong transcription	Brain Germinal Matrix	brain
44	chr11:65648800-65651200	Weak transcription	HUVEC	blood vessel
45	chr11:65648800-65651800	Strong transcription	Fetal Brain Female	brain
46	chr11:65648800-65651800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:65648800-65651800	Strong transcription	NHEK	skin
48	chr11:65648800-65651800	Strong transcription	NHLF	lung
49	chr11:65648800-65652000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:65648800-65652200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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