Variant report

Variant	rs7103915
Chromosome Location	chr11:63944370-63944371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63943658..63945912-chr11:63947047..63949667,3	K562	blood:
2	chr11:63932221..63937015-chr11:63943035..63946757,7	K562	blood:
3	chr11:63935207..63938760-chr11:63941308..63944711,4	K562	blood:

Variant related genes	Relation type
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1011219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11231710	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11231713	0.82[CHD][hapmap];0.91[GIH][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs11231726	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11600628	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11600667	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11604083	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11605193	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11605856	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11607903	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12417635	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12419038	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17773078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2005272	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2096706	0.81[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2186572	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs3862371	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55942618	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55970968	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56207008	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56311067	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57021319	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60394481	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61083753	0.85[ASN][1000 genomes]
rs632603	0.83[CEU][hapmap]
rs641811	0.84[CEU][hapmap]
rs646384	0.83[GIH][hapmap]
rs683996	0.84[CEU][hapmap]
rs7109921	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7122408	0.80[EUR][1000 genomes]
rs7123026	0.88[EUR][1000 genomes]
rs734762	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7941773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs947939	0.83[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv832185	chr11:63819946-63963532	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
6	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
7	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
8	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
9	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv897663	chr11:63910153-63962152	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	n/a
11	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
12	nsv468592	chr11:63924446-64042997	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	166 gene(s)	inside rSNPs	diseases
13	nsv555184	chr11:63924446-64042997	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription 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	166 gene(s)	inside rSNPs	diseases
14	nsv897665	chr11:63927695-64026144	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
15	nsv897666	chr11:63929493-64026144	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	155 gene(s)	inside rSNPs	diseases
16	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
17	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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	212 gene(s)	inside rSNPs	diseases
18	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs7103915	RCE1	cis	cerebellum	SCAN
rs7103915	CCDC88B	cis	lymphoblastoid	seeQTL
rs7103915	FKBP2	cis	cerebellum	SCAN
rs7103915	CCDC88B	cis	cerebellum	SCAN
rs7103915	CCS	cis	cerebellum	SCAN
rs7103915	FKBP2	cis	parietal	SCAN
rs7103915	ANKRD13D	cis	cerebellum	SCAN
rs7103915	RBM14	cis	cerebellum	SCAN
rs7103915	MALAT1	cis	cerebellum	SCAN
rs7103915	ESRRA	cis	cerebellum	SCAN
rs7103915	RAB1B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63934200-63948000	Weak transcription	Right Ventricle	heart
2	chr11:63934200-63948200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:63934200-63948200	Weak transcription	Esophagus	oesophagus
4	chr11:63934200-63948200	Weak transcription	Stomach Mucosa	stomach
5	chr11:63934200-63948800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:63934200-63950800	Weak transcription	Gastric	stomach
7	chr11:63934400-63948000	Weak transcription	Right Atrium	heart
8	chr11:63934600-63944400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:63935000-63948200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:63935600-63946400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:63935800-63947400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:63935800-63948000	Weak transcription	Pancreas	Pancrea
13	chr11:63937600-63946800	Weak transcription	A549	lung
14	chr11:63941400-63948200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:63941600-63945400	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:63941600-63946800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:63941600-63949000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:63941800-63944800	Weak transcription	GM12878-XiMat	blood
19	chr11:63941800-63946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:63941800-63946200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:63941800-63946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:63941800-63948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:63941800-63948200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:63942000-63946600	Weak transcription	Fetal Intestine Small	intestine
25	chr11:63942000-63948000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:63942400-63948200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:63942800-63946000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:63943200-63949000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:63943400-63948200	Weak transcription	Aorta	Aorta
30	chr11:63943600-63946600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:63943600-63948200	Weak transcription	NHLF	lung
32	chr11:63943600-63951000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:63943800-63946200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:63943800-63946800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:63944000-63948000	Weak transcription	HSMMtube	muscle
36	chr11:63944200-63945000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr11:63944200-63945000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:63944200-63945000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:63944200-63945000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:63944200-63945400	Enhancers	Fetal Thymus	thymus

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