Variant report

Variant	rs73454054
Chromosome Location	chr11:46729706-46729707
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46727818..46730123-chrX:69570212..69571712,2	MCF-7	breast:
2	chr11:46698595..46700569-chr11:46727861..46730594,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs36017347	0.93[AFR][1000 genomes]
rs73454018	1.00[AMR][1000 genomes]
rs73454041	0.93[AFR][1000 genomes]
rs73454046	0.93[AFR][1000 genomes]
rs73454052	0.93[AFR][1000 genomes]
rs73454062	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46723600-46730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:46723600-46730200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:46723600-46732000	Weak transcription	Fetal Heart	heart
4	chr11:46723600-46739800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:46723800-46729800	Strong transcription	Fetal Lung	lung
6	chr11:46723800-46733000	Strong transcription	Fetal Stomach	stomach
7	chr11:46724000-46730000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:46724000-46730200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:46724000-46730200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:46724000-46731000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:46724200-46730000	Strong transcription	Adipose Nuclei	Adipose
12	chr11:46724400-46729800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:46724400-46730000	Strong transcription	Fetal Brain Female	brain
14	chr11:46724400-46730200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:46724400-46730200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr11:46724400-46730200	Strong transcription	Osteobl	bone
17	chr11:46724400-46732200	Weak transcription	Right Atrium	heart
18	chr11:46724400-46733200	Strong transcription	Fetal Intestine Small	intestine
19	chr11:46724600-46730000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:46724600-46730400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:46724800-46730000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:46724800-46730000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:46724800-46730000	Strong transcription	Fetal Thymus	thymus
24	chr11:46724800-46730000	Strong transcription	Gastric	stomach
25	chr11:46724800-46730200	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:46724800-46730200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:46724800-46730200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:46724800-46730400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:46724800-46730400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:46724800-46730400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:46724800-46731600	Strong transcription	Brain Germinal Matrix	brain
32	chr11:46724800-46731800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:46725000-46729800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:46725000-46729800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:46725000-46729800	Weak transcription	Fetal Kidney	kidney
36	chr11:46725000-46730000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:46725000-46730200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:46725000-46730400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:46725000-46730400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr11:46725200-46730800	Weak transcription	Fetal Brain Male	brain
41	chr11:46725200-46739600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:46725200-46739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:46726600-46732800	Weak transcription	Psoas Muscle	Psoas
44	chr11:46727600-46738000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:46727600-46739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:46727800-46732800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:46727800-46735600	Weak transcription	HUVEC	blood vessel
48	chr11:46727800-46736800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr11:46727800-46739400	Weak transcription	Stomach Mucosa	stomach
50	chr11:46728400-46730000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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