Variant report

Variant	rs538268
Chromosome Location	chr11:65662788-65662789
allele	C/G/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	chr11:65661660..65664635-chr11:65790065..65792086,2	K562	blood:
2	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
3	chr11:65541575..65543140-chr11:65661807..65663676,2	K562	blood:
4	chr11:65564975..65566477-chr11:65661433..65663002,2	K562	blood:
5	chr11:65537505..65539315-chr11:65661843..65663867,2	MCF-7	breast:
6	chr11:65472457..65475716-chr11:65659486..65662901,4	K562	blood:
7	chr11:64509223..64512126-chr11:65661954..65663646,2	K562	blood:
8	chr11:65661368..65662904-chr11:65817968..65820375,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068831	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000175550	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10791830	0.82[ASN][1000 genomes]
rs11227335	0.82[EUR][1000 genomes]
rs507062	0.89[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs588114	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs622614	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs538268	FIBP	Cis_1M	lymphoblastoid	RTeQTL
rs538268	FIBP	cis	multi-tissue	Pritchard
rs538268	CTSW	cis	lung	GTEx
rs538268	CTSW	Cis_1M	lymphoblastoid	RTeQTL
rs538268	CTSW	cis	Whole Blood	GTEx
rs538268	CTSW	cis	Thyroid	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65659800-65665800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:65659800-65665800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:65660200-65662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:65660200-65665800	Genic enhancers	K562	blood
5	chr11:65660600-65666600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:65660600-65666600	Weak transcription	Pancreas	Pancrea
7	chr11:65660800-65663000	Genic enhancers	Osteobl	bone
8	chr11:65661200-65663200	Weak transcription	Psoas Muscle	Psoas
9	chr11:65661200-65666600	Weak transcription	Small Intestine	intestine
10	chr11:65661400-65666400	Weak transcription	Stomach Mucosa	stomach
11	chr11:65661600-65663000	Genic enhancers	NHEK	skin
12	chr11:65661600-65663800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:65661800-65662800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:65661800-65663000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:65661800-65663000	Weak transcription	HepG2	liver
16	chr11:65661800-65663200	Genic enhancers	HMEC	breast
17	chr11:65661800-65663600	Weak transcription	Lung	lung
18	chr11:65661800-65664800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:65661800-65666600	Weak transcription	Right Atrium	heart
20	chr11:65662000-65662800	Weak transcription	HSMM	muscle
21	chr11:65662000-65662800	Weak transcription	HSMMtube	muscle
22	chr11:65662000-65662800	Weak transcription	NHDF-Ad	bronchial
23	chr11:65662000-65663000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:65662000-65663000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:65662000-65663000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:65662000-65663000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:65662000-65663000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:65662000-65663000	Weak transcription	Right Ventricle	heart
29	chr11:65662000-65663000	Weak transcription	A549	lung
30	chr11:65662000-65663000	Weak transcription	Hela-S3	cervix
31	chr11:65662000-65663000	Strong transcription	NH-A	brain
32	chr11:65662000-65663200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:65662000-65663200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:65662000-65664600	Genic enhancers	HUVEC	blood vessel
35	chr11:65662000-65665200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:65662000-65665800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:65662000-65666000	Weak transcription	Adipose Nuclei	Adipose
38	chr11:65662000-65666000	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:65662000-65666000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:65662000-65666400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:65662000-65666400	Weak transcription	Brain Anterior Caudate	brain
42	chr11:65662000-65666400	Weak transcription	Esophagus	oesophagus
43	chr11:65662000-65666400	Weak transcription	Placenta	Placenta
44	chr11:65662000-65666400	Weak transcription	Spleen	Spleen
45	chr11:65662000-65666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:65662200-65662800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr11:65662200-65662800	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr11:65662200-65662800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:65662200-65662800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:65662200-65663000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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