Variant report

Variant	rs2229163
Chromosome Location	chr11:46406857-46406858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46391433..46393341-chr11:46403120..46407243,3	MCF-7	breast:
2	chr11:46405206..46407245-chr11:46550618..46552285,2	K562	blood:

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction
ENSG00000110497	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11038876	0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038880	1.00[ASW][hapmap];0.88[LWK][hapmap];0.92[MKK][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038901	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11038916	1.00[YRI][hapmap]
rs11821531	0.86[ASW][hapmap];0.96[LWK][hapmap];1.00[AMR][1000 genomes]
rs11827702	1.00[AMR][1000 genomes]
rs11827909	1.00[ASW][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285596	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290327	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7129348	1.00[AMR][1000 genomes]
rs7942614	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][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	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
6	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46404200-46407800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:46404200-46408600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:46404400-46410800	Weak transcription	Gastric	stomach
4	chr11:46404400-46410800	Weak transcription	Right Atrium	heart
5	chr11:46404600-46408000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:46404600-46408000	Weak transcription	NHLF	lung
7	chr11:46404800-46407400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:46404800-46407600	Weak transcription	Fetal Kidney	kidney
9	chr11:46404800-46408800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:46404800-46409000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:46405000-46407200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:46405000-46409000	Weak transcription	Ovary	ovary
13	chr11:46405000-46409200	Weak transcription	HSMM	muscle
14	chr11:46405200-46407000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:46405200-46407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:46405200-46407800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:46405200-46407800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:46405200-46408000	Weak transcription	NH-A	brain
19	chr11:46405200-46408200	Weak transcription	HepG2	liver
20	chr11:46405200-46409200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:46405400-46407400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:46405400-46407600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:46405400-46408200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:46405400-46409200	Weak transcription	Fetal Heart	heart
25	chr11:46405600-46408000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:46405600-46408000	ZNF genes & repeats	Spleen	Spleen
27	chr11:46405800-46407800	Weak transcription	Fetal Lung	lung
28	chr11:46405800-46408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:46405800-46408400	Weak transcription	HMEC	breast
30	chr11:46405800-46408800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:46405800-46409200	Weak transcription	K562	blood
32	chr11:46406000-46408000	Weak transcription	Hela-S3	cervix
33	chr11:46406000-46408400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:46406200-46408000	Weak transcription	Brain Germinal Matrix	brain
35	chr11:46406400-46407800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:46406600-46407000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
37	chr11:46406600-46407000	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:46406600-46408000	Weak transcription	Fetal Intestine Small	intestine
39	chr11:46406600-46409200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:46406800-46407000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:46406800-46407000	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr11:46406800-46407000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr11:46406800-46407800	Weak transcription	Fetal Brain Female	brain
44	chr11:46406800-46408800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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