Variant report

Variant	rs12283400
Chromosome Location	chr11:85675009-85675010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85659572..85662083-chr11:85672337..85675238,2	MCF-7	breast:
2	chr11:85664784..85666650-chr11:85673268..85675684,2	K562	blood:
3	chr11:85674041..85677352-chr11:85678170..85681418,4	K562	blood:
4	chr11:85670169..85672346-chr11:85673679..85676111,2	K562	blood:
5	chr11:85658393..85662131-chr11:85674389..85678033,3	K562	blood:
6	chr11:85667385..85669664-chr11:85671741..85675439,4	K562	blood:
7	chr11:85658393..85660866-chr11:85673008..85675889,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10501606	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10898429	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234482	1.00[AMR][1000 genomes]
rs11234484	1.00[AMR][1000 genomes]
rs11234490	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234506	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234516	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234521	1.00[AMR][1000 genomes]
rs11234522	1.00[AMR][1000 genomes]
rs11234525	1.00[YRI][hapmap]
rs11234526	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234528	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234529	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234530	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11234553	1.00[AMR][1000 genomes]
rs11234557	1.00[AMR][1000 genomes]
rs12270430	1.00[AMR][1000 genomes]
rs12270938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272711	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276323	1.00[AMR][1000 genomes]
rs12278254	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279581	0.87[AFR][1000 genomes]
rs12280026	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12283011	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283160	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283835	1.00[AMR][1000 genomes]
rs12286862	1.00[AMR][1000 genomes]
rs12288262	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12290708	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292101	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292953	0.84[AFR][1000 genomes]
rs12293426	1.00[AMR][1000 genomes]
rs12295435	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377593	1.00[AMR][1000 genomes]
rs9804530	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1053599	chr11:85641619-85684353	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1040567	chr11:85641619-85684935	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85656000-85679800	Weak transcription	Fetal Brain Male	brain
2	chr11:85659400-85745800	Weak transcription	Stomach Mucosa	stomach
3	chr11:85663400-85692000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:85663800-85740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:85664400-85678600	Strong transcription	Adipose Nuclei	Adipose
6	chr11:85664400-85687200	Strong transcription	Primary T cells from cord blood	blood
7	chr11:85664400-85693600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:85664400-85699800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:85664400-85726800	Strong transcription	Liver	Liver
10	chr11:85664400-85729000	Strong transcription	Placenta	Placenta
11	chr11:85664600-85693200	Strong transcription	Fetal Thymus	thymus
12	chr11:85664600-85730800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:85664800-85678600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:85664800-85689400	Strong transcription	Primary B cells from cord blood	blood
15	chr11:85664800-85733000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:85665000-85679200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:85665200-85742600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr11:85665200-85743000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:85665400-85678800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:85665400-85699800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr11:85665600-85679600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:85665600-85687800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:85665800-85679600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:85665800-85699600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr11:85665800-85701200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:85665800-85711400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:85666000-85677200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:85666000-85679200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:85666000-85735800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr11:85666400-85679000	Strong transcription	Hela-S3	cervix
31	chr11:85666400-85679200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr11:85666400-85680400	Strong transcription	Dnd41	blood
33	chr11:85666400-85693600	Strong transcription	Primary hematopoietic stem cells	blood
34	chr11:85666600-85680200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:85666800-85675600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr11:85666800-85679400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:85667600-85675600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:85667800-85675600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:85667800-85678800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:85667800-85679200	Strong transcription	NHLF	lung
41	chr11:85667800-85701800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:85667800-85712000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr11:85668000-85676200	Strong transcription	NH-A	brain
44	chr11:85668000-85677200	Weak transcription	Ovary	ovary
45	chr11:85668000-85681600	Weak transcription	Fetal Brain Female	brain
46	chr11:85668000-85691400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:85668200-85676200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:85668600-85675400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:85669400-85675600	Weak transcription	Brain Germinal Matrix	brain
50	chr11:85669400-85686200	Strong transcription	Fetal Intestine Large	intestine

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