Variant report

Variant	rs73460994
Chromosome Location	chr11:47942820-47942821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47936350..47939236-chr11:47942544..47946300,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1807195	1.00[AMR][1000 genomes]
rs57639610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57715874	1.00[AFR][1000 genomes]
rs58321258	1.00[AMR][1000 genomes]
rs58448918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60139548	1.00[AMR][1000 genomes]
rs60354180	1.00[AFR][1000 genomes]
rs60637944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60974919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61268975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61280057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61380628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61638533	1.00[AFR][1000 genomes]
rs73453051	1.00[AMR][1000 genomes]
rs73458850	1.00[AFR][1000 genomes]
rs73458857	0.84[AFR][1000 genomes]
rs73460984	1.00[AMR][1000 genomes]
rs73461000	1.00[AMR][1000 genomes]
rs73462805	1.00[AMR][1000 genomes]
rs73462855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73462867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73462901	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	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/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47925600-47943200	Enhancers	Placenta	Placenta
2	chr11:47934000-47946600	Enhancers	Primary B cells from cord blood	blood
3	chr11:47934400-47947200	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:47935400-47944600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:47937400-47949800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:47938400-47945600	Weak transcription	Left Ventricle	heart
7	chr11:47938800-47943200	Enhancers	Dnd41	blood
8	chr11:47939000-47943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:47939000-47943600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:47939200-47943000	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:47939200-47943000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:47939200-47944600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:47939400-47943200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr11:47939400-47943800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:47939600-47943200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:47939600-47943200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:47939600-47944600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr11:47939600-47946600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:47939800-47945200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:47940000-47945200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:47940000-47945200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:47940200-47943200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:47940200-47945200	Weak transcription	Adipose Nuclei	Adipose
24	chr11:47940200-47945200	Weak transcription	Fetal Heart	heart
25	chr11:47940200-47945200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:47940200-47950000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:47940400-47945400	Weak transcription	Stomach Mucosa	stomach
28	chr11:47940600-47945200	Weak transcription	Fetal Lung	lung
29	chr11:47940600-47945200	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:47940800-47945000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:47940800-47945200	Weak transcription	Fetal Stomach	stomach
32	chr11:47940800-47945200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:47941000-47944000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:47941000-47945200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:47941000-47945200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:47941200-47943200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr11:47941200-47944000	Weak transcription	Pancreas	Pancrea
38	chr11:47941200-47944200	Weak transcription	Lung	lung
39	chr11:47941200-47944800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:47941200-47945000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:47941200-47945000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:47941200-47945000	Weak transcription	NHLF	lung
43	chr11:47941200-47945200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:47941200-47945200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:47941200-47945200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:47941200-47945200	Weak transcription	HSMM	muscle
47	chr11:47941200-47945200	Weak transcription	HUVEC	blood vessel
48	chr11:47941200-47945400	Weak transcription	NH-A	brain
49	chr11:47941200-47945600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:47941200-47945800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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