Variant report

Variant	rs11030008
Chromosome Location	chr11:3858616-3858617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3857735..3860667-chr11:4115366..4118226,4	K562	blood:
2	chr11:3856690..3859651-chr11:3923487..3926429,2	K562	blood:
3	chr11:3857497..3860664-chr11:3860718..3863734,5	MCF-7	breast:
4	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
5	chr11:3856690..3859651-chr11:3923487..3926429,3	K562	blood:
6	chr11:3849679..3852427-chr11:3857785..3859951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110713	Chromatin interaction
ENSG00000167325	Chromatin interaction
ENSG00000148985	Chromatin interaction
ENSG00000177105	Chromatin interaction
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1055639	0.81[JPT][hapmap]
rs10742177	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10767641	0.80[ASN][1000 genomes]
rs10835174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10835175	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10835177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10835178	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11030002	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12363789	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1451720	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1451721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1451722	0.81[CEU][hapmap];0.88[GIH][hapmap];0.80[MEX][hapmap]
rs4597058	0.81[JPT][hapmap]
rs962199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv1044882	chr11:3828986-3860024	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS 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	9 gene(s)	inside rSNPs	diseases
10	nsv1044360	chr11:3832288-3860024	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1046325	chr11:3856201-3895148	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1039059	chr11:3856201-3909415	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv540910	chr11:3856201-3909415	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
2	chr11:3848400-3861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:3849400-3859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:3849600-3861000	Weak transcription	HSMMtube	muscle
5	chr11:3852200-3859800	Enhancers	Right Ventricle	heart
6	chr11:3852200-3860800	Enhancers	Small Intestine	intestine
7	chr11:3852400-3859800	Weak transcription	Fetal Brain Female	brain
8	chr11:3852600-3860400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
9	chr11:3853600-3859000	Genic enhancers	Fetal Intestine Small	intestine
10	chr11:3853600-3860800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:3854200-3860000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:3854600-3858800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr11:3854600-3860200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:3854600-3860800	Enhancers	Placenta	Placenta
15	chr11:3855000-3860600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr11:3855200-3859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:3855200-3860600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:3855200-3860800	Enhancers	Brain Angular Gyrus	brain
19	chr11:3855200-3862000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:3855400-3860600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr11:3855400-3861000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:3855600-3860200	Enhancers	Left Ventricle	heart
23	chr11:3855600-3860600	Genic enhancers	Fetal Muscle Leg	muscle
24	chr11:3855800-3859200	Enhancers	Liver	Liver
25	chr11:3855800-3859400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:3856000-3860800	Enhancers	HUVEC	blood vessel
27	chr11:3856200-3860400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:3856200-3860800	Genic enhancers	Fetal Stomach	stomach
29	chr11:3856200-3861400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr11:3856200-3861400	Weak transcription	Aorta	Aorta
31	chr11:3856600-3859400	Enhancers	Esophagus	oesophagus
32	chr11:3856600-3859400	Enhancers	Pancreas	Pancrea
33	chr11:3856600-3860200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:3856800-3858800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:3856800-3859600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:3856800-3860400	Weak transcription	Brain Germinal Matrix	brain
37	chr11:3856800-3860800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:3856800-3861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:3857000-3859800	Enhancers	Lung	lung
40	chr11:3857000-3859800	Enhancers	Spleen	Spleen
41	chr11:3857000-3860400	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr11:3857000-3860800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr11:3857200-3858800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:3857200-3858800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:3857200-3859000	Enhancers	Fetal Thymus	thymus
46	chr11:3857200-3859200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:3857200-3859200	Strong transcription	NHEK	skin
48	chr11:3857200-3860200	Weak transcription	NH-A	brain
49	chr11:3857200-3860600	Weak transcription	HSMM	muscle
50	chr11:3857200-3860800	Enhancers	Brain Inferior Temporal Lobe	brain

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