Variant report

Variant	rs4752929
Chromosome Location	chr11:46730329-46730330
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	chr11:46698595..46700569-chr11:46727861..46730594,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10769205	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11606709	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12274785	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12361673	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13448	0.84[EUR][1000 genomes]
rs2070852	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2282686	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3136505	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4606447	0.83[EUR][1000 genomes]
rs57804402	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7932354	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9704782	0.85[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46723600-46732000	Weak transcription	Fetal Heart	heart
2	chr11:46723600-46739800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:46723800-46733000	Strong transcription	Fetal Stomach	stomach
4	chr11:46724000-46731000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:46724400-46732200	Weak transcription	Right Atrium	heart
6	chr11:46724400-46733200	Strong transcription	Fetal Intestine Small	intestine
7	chr11:46724600-46730400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:46724800-46730400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:46724800-46730400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:46724800-46730400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr11:46724800-46731600	Strong transcription	Brain Germinal Matrix	brain
12	chr11:46724800-46731800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:46725000-46730400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:46725000-46730400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr11:46725200-46730800	Weak transcription	Fetal Brain Male	brain
16	chr11:46725200-46739600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:46725200-46739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:46726600-46732800	Weak transcription	Psoas Muscle	Psoas
19	chr11:46727600-46738000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:46727600-46739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:46727800-46732800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:46727800-46735600	Weak transcription	HUVEC	blood vessel
23	chr11:46727800-46736800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:46727800-46739400	Weak transcription	Stomach Mucosa	stomach
25	chr11:46728400-46730600	Weak transcription	Small Intestine	intestine
26	chr11:46728400-46732000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:46728400-46732000	Weak transcription	Ovary	ovary
28	chr11:46728400-46735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:46728400-46735600	Weak transcription	HMEC	breast
30	chr11:46728400-46739800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:46728600-46732000	Weak transcription	NHDF-Ad	bronchial
32	chr11:46728600-46732800	Weak transcription	Brain Anterior Caudate	brain
33	chr11:46728800-46730600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:46728800-46730800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:46728800-46732000	Weak transcription	Left Ventricle	heart
36	chr11:46728800-46732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:46728800-46732400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:46728800-46732800	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:46728800-46745600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:46728800-46745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:46729000-46730800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:46729000-46730800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:46729000-46731400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:46729000-46731400	Weak transcription	GM12878-XiMat	blood
45	chr11:46729000-46732000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:46729000-46732400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:46729000-46732400	Weak transcription	Brain Substantia Nigra	brain
48	chr11:46729000-46732400	Weak transcription	HSMMtube	muscle
49	chr11:46729000-46732400	Weak transcription	NH-A	brain
50	chr11:46729000-46733600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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