Variant report

Variant	rs2011092
Chromosome Location	chr3:141124607-141124608
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141115976..141119088-chr3:141122527..141125160,3	MCF-7	breast:
2	chr3:141122791..141124629-chr3:141128045..141130082,2	K562	blood:
3	chr3:141085122..141087932-chr3:141123780..141125883,2	MCF-7	breast:
4	chr3:141114089..141115848-chr3:141123999..141126481,2	K562	blood:
5	chr3:141104620..141107838-chr3:141124068..141126667,3	MCF-7	breast:
6	chr3:141106458..141109365-chr3:141123758..141125561,2	K562	blood:
7	chr3:141100985..141103697-chr3:141123683..141126510,2	K562	blood:
8	chr3:141123064..141125479-chr3:141137603..141140380,2	MCF-7	breast:
9	chr3:141089140..141091952-chr3:141123573..141125140,2	K562	blood:
10	chr3:141120608..141122904-chr3:141123337..141125352,2	K562	blood:
11	chr3:141088820..141091085-chr3:141123640..141126177,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249417	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13066993	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13067032	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13068065	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13069734	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13091182	1.00[CEU][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13095453	0.92[CEU][hapmap]
rs13099193	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35225290	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6767786	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6767899	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6785073	1.00[CEU][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6789653	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6807935	0.90[EUR][1000 genomes]
rs726838	0.93[CEU][hapmap]
rs9821337	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9822195	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9822327	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9857275	0.92[CEU][hapmap]
rs9858603	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141122000-141127600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:141122000-141128600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:141122000-141129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:141122000-141130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:141122000-141131800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:141122200-141126200	Genic enhancers	HSMM	muscle
7	chr3:141122200-141128800	Weak transcription	Fetal Thymus	thymus
8	chr3:141122200-141129400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:141122400-141124800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:141122400-141126000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:141122400-141126800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:141122400-141127000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
13	chr3:141122400-141127800	Genic enhancers	Placenta	Placenta
14	chr3:141122600-141125000	Strong transcription	K562	blood
15	chr3:141122600-141125400	Genic enhancers	HMEC	breast
16	chr3:141122600-141125800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:141122600-141128200	Strong transcription	Fetal Intestine Large	intestine
18	chr3:141122600-141130400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:141122600-141130400	Genic enhancers	NH-A	brain
20	chr3:141122800-141124800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:141122800-141125000	Genic enhancers	Brain Anterior Caudate	brain
22	chr3:141122800-141125200	Strong transcription	Liver	Liver
23	chr3:141122800-141125600	Genic enhancers	Hela-S3	cervix
24	chr3:141122800-141126200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr3:141122800-141126600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:141122800-141127000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:141122800-141127600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:141122800-141129400	Enhancers	Fetal Heart	heart
29	chr3:141123000-141125000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:141123000-141125200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:141123000-141125200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:141123000-141125600	Strong transcription	Stomach Mucosa	stomach
33	chr3:141123000-141125600	Genic enhancers	HSMMtube	muscle
34	chr3:141123000-141126200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr3:141123000-141127000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:141123000-141127000	Strong transcription	Fetal Brain Male	brain
37	chr3:141123000-141127200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:141123000-141127800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr3:141123000-141128000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:141123000-141128200	Genic enhancers	A549	lung
41	chr3:141123200-141125000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:141123200-141125200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:141123200-141125400	Strong transcription	Brain Germinal Matrix	brain
44	chr3:141123200-141126000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:141123200-141129200	Genic enhancers	Primary T cells fromperipheralblood	blood
46	chr3:141123200-141130400	Genic enhancers	Osteobl	bone
47	chr3:141123200-141130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr3:141123200-141130600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:141123400-141125200	Strong transcription	Adipose Nuclei	Adipose
50	chr3:141123400-141125400	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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