Variant report

Variant	rs12290327
Chromosome Location	chr11:46512027-46512028
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46507863..46510166-chr11:46511411..46513736,3	MCF-7	breast:
2	chr11:46511239..46512489-chr11:46550596..46551493,3	K562	blood:
3	chr11:46511216..46512491-chr11:46550513..46551576,8	MCF-7	breast:
4	chr11:46511340..46512164-chr11:46559088..46559940,7	MCF-7	breast:
5	chr11:46511440..46513599-chr11:46521171..46522703,2	MCF-7	breast:
6	chr11:46511827..46514698-chr11:46548924..46550458,2	K562	blood:
7	chr11:46510289..46512312-chr11:46557976..46559510,2	MCF-7	breast:
8	chr11:46511673..46512237-chr11:46550555..46551620,3	MCF-7	breast:
9	chr11:46402070..46406146-chr11:46510121..46513301,3	K562	blood:
10	chr11:46497976..46500290-chr11:46511742..46513861,2	K562	blood:
11	chr11:46412420..46414324-chr11:46511342..46513973,2	K562	blood:
12	chr11:46510452..46512681-chr11:46522046..46523825,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11038876	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs11038880	1.00[ASW][hapmap];0.88[LWK][hapmap];0.92[MKK][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs11038901	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038916	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11038934	0.86[ASW][hapmap];0.96[LWK][hapmap];0.80[MKK][hapmap]
rs11038967	0.83[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs11819818	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11821531	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];1.00[AMR][1000 genomes]
rs12276664	0.92[YRI][hapmap]
rs12278517	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs12285596	1.00[AMR][1000 genomes]
rs2229163	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7113194	0.92[YRI][hapmap]
rs7129348	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942614	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7952678	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46456800-46515000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr11:46464200-46513000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:46465000-46513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:46479000-46513400	Weak transcription	Spleen	Spleen
5	chr11:46479000-46525600	Weak transcription	Lung	lung
6	chr11:46486200-46513200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:46486200-46525800	Weak transcription	Fetal Brain Female	brain
8	chr11:46486400-46513600	Weak transcription	Esophagus	oesophagus
9	chr11:46486600-46518800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:46487400-46514200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:46487600-46513600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:46487600-46514200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:46487600-46515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:46488200-46513400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:46488200-46515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:46490000-46512400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:46490200-46525800	Weak transcription	Aorta	Aorta
18	chr11:46492800-46513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:46494400-46513600	Weak transcription	Brain Angular Gyrus	brain
20	chr11:46494400-46515000	Weak transcription	NH-A	brain
21	chr11:46494800-46515000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:46494800-46519800	Weak transcription	Psoas Muscle	Psoas
23	chr11:46495000-46512200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:46495200-46512200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:46495200-46514800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:46497600-46537600	Weak transcription	A549	lung
27	chr11:46498000-46512200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:46498000-46513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:46498400-46513400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:46499000-46512800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:46499800-46513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:46500200-46514800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:46502800-46512400	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:46502800-46513600	Weak transcription	Right Atrium	heart
35	chr11:46503000-46513400	Weak transcription	Pancreas	Pancrea
36	chr11:46503000-46515200	Weak transcription	Ovary	ovary
37	chr11:46503400-46563000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:46504200-46512200	Weak transcription	Fetal Lung	lung
39	chr11:46505000-46526800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:46505200-46514600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:46505400-46513200	Weak transcription	Fetal Stomach	stomach
42	chr11:46506600-46526400	Weak transcription	NHLF	lung
43	chr11:46507600-46513400	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:46507600-46513600	Weak transcription	Small Intestine	intestine
45	chr11:46507600-46519000	Weak transcription	Right Ventricle	heart
46	chr11:46507800-46513200	Weak transcription	Fetal Intestine Large	intestine
47	chr11:46507800-46529600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:46507800-46529600	Weak transcription	Stomach Mucosa	stomach
49	chr11:46508000-46512200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr11:46508000-46513200	Weak transcription	Brain Germinal Matrix	brain

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