Variant report

Variant	rs1049388
Chromosome Location	chr11:3848373-3848374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3846755..3850440-chr11:4090727..4095329,4	K562	blood:
2	chr11:3844575..3846833-chr11:3846927..3849386,4	MCF-7	breast:
3	chr11:3816391..3818213-chr11:3846207..3848807,2	K562	blood:

Variant related genes	Relation type
ENSG00000148985	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11029983	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030043	1.00[ASN][1000 genomes]
rs11030044	1.00[ASN][1000 genomes]
rs11030055	1.00[ASN][1000 genomes]
rs11030173	1.00[ASN][1000 genomes]
rs11600857	1.00[ASN][1000 genomes]
rs11606318	1.00[ASN][1000 genomes]
rs11606483	1.00[ASN][1000 genomes]
rs17173882	1.00[ASN][1000 genomes]
rs17191448	1.00[ASN][1000 genomes]
rs17276405	1.00[ASN][1000 genomes]
rs17276453	1.00[ASN][1000 genomes]
rs4910577	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910846	1.00[ASN][1000 genomes]
rs4910852	0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910856	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910857	1.00[ASN][1000 genomes]
rs61896929	1.00[ASN][1000 genomes]
rs61896930	1.00[ASN][1000 genomes]
rs61896931	1.00[ASN][1000 genomes]
rs61896953	1.00[ASN][1000 genomes]
rs61896954	1.00[ASN][1000 genomes]
rs61896956	1.00[ASN][1000 genomes]
rs61896957	1.00[ASN][1000 genomes]
rs61896958	1.00[ASN][1000 genomes]
rs61896959	1.00[ASN][1000 genomes]
rs61899361	1.00[ASN][1000 genomes]
rs61899362	1.00[ASN][1000 genomes]
rs61899363	1.00[ASN][1000 genomes]
rs61899392	1.00[ASN][1000 genomes]
rs61899393	1.00[ASN][1000 genomes]
rs6578414	1.00[ASN][1000 genomes]
rs7101788	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844340	1.00[ASN][1000 genomes]
rs72844341	1.00[ASN][1000 genomes]
rs73430467	1.00[ASN][1000 genomes]
rs74050940	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830200-3852400	Weak transcription	Fetal Brain Male	brain
2	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
3	chr11:3832600-3853000	Weak transcription	Psoas Muscle	Psoas
4	chr11:3842000-3853600	Strong transcription	Fetal Intestine Small	intestine
5	chr11:3844000-3848600	Enhancers	Brain Angular Gyrus	brain
6	chr11:3844000-3857000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:3844400-3856200	Strong transcription	Fetal Stomach	stomach
8	chr11:3844600-3849400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:3844600-3849400	Strong transcription	Brain Germinal Matrix	brain
10	chr11:3844600-3852800	Strong transcription	Fetal Intestine Large	intestine
11	chr11:3844600-3853400	Strong transcription	Thymus	Thymus
12	chr11:3844800-3854800	Strong transcription	Dnd41	blood
13	chr11:3844800-3857000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:3845000-3848800	Weak transcription	HSMMtube	muscle
15	chr11:3845000-3849400	Strong transcription	Fetal Brain Female	brain
16	chr11:3845000-3856000	Weak transcription	HUVEC	blood vessel
17	chr11:3845200-3849600	Strong transcription	Pancreas	Pancrea
18	chr11:3845200-3849600	Strong transcription	NHLF	lung
19	chr11:3845200-3852200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:3845200-3855800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:3845400-3854200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:3845400-3855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:3845400-3855800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:3845600-3849400	Genic enhancers	Spleen	Spleen
25	chr11:3845600-3851800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:3845600-3855800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:3845800-3848600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:3845800-3849800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:3846000-3851800	Strong transcription	Fetal Lung	lung
30	chr11:3846000-3853800	Strong transcription	A549	lung
31	chr11:3846200-3848400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr11:3846200-3848400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:3846200-3848400	Strong transcription	Gastric	stomach
34	chr11:3846200-3848600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:3846200-3849000	Genic enhancers	H9 Cell Line	embryonic stem cell
36	chr11:3846200-3849200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
37	chr11:3846200-3849600	Strong transcription	Esophagus	oesophagus
38	chr11:3846200-3849800	Strong transcription	Hela-S3	cervix
39	chr11:3846200-3851800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:3846200-3852000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:3846200-3852000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr11:3846200-3852000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:3846200-3852800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:3846400-3848400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:3846400-3849600	Strong transcription	Osteobl	bone
46	chr11:3846400-3849800	Strong transcription	HSMM	muscle
47	chr11:3846400-3851600	Strong transcription	Liver	Liver
48	chr11:3846400-3851800	Genic enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:3846400-3852000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:3846400-3852000	Strong transcription	Duodenum Mucosa	Duodenum

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