Variant report

Variant	rs4476528
Chromosome Location	chr3:48086885-48086886
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	chr3:48086229..48089138-chr3:48089588..48092474,3	K562	blood:
2	chr3:48086308..48089138-chr3:48089588..48092481,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1486916	1.00[AMR][1000 genomes]
rs2351249	1.00[AMR][1000 genomes]
rs2593817	1.00[AMR][1000 genomes]
rs319683	1.00[AMR][1000 genomes]
rs34675858	1.00[AMR][1000 genomes]
rs3731495	1.00[AMR][1000 genomes]
rs3731539	1.00[AMR][1000 genomes]
rs3731547	1.00[AMR][1000 genomes]
rs55808934	1.00[AMR][1000 genomes]
rs6442092	1.00[AMR][1000 genomes]
rs6442104	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6773945	1.00[AMR][1000 genomes]
rs7372108	1.00[AMR][1000 genomes]
rs73831540	1.00[AMR][1000 genomes]
rs73831544	1.00[AMR][1000 genomes]
rs73831562	1.00[AMR][1000 genomes]
rs73831565	1.00[AMR][1000 genomes]
rs9863220	1.00[AMR][1000 genomes]
rs9917799	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
7	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
11	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48051200-48128000	Weak transcription	Primary B cells from cord blood	blood
2	chr3:48059600-48128800	Weak transcription	Primary T cells from cord blood	blood
3	chr3:48059800-48090800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:48059800-48093600	Weak transcription	Gastric	stomach
5	chr3:48060800-48088800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:48060800-48089400	Weak transcription	Dnd41	blood
7	chr3:48064400-48128800	Weak transcription	Esophagus	oesophagus
8	chr3:48074800-48105400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:48075800-48102600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:48076200-48094200	Weak transcription	Aorta	Aorta
11	chr3:48076400-48100400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:48080600-48090800	Weak transcription	Lung	lung
13	chr3:48081000-48089400	Weak transcription	K562	blood
14	chr3:48081000-48090400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:48081000-48090800	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:48081000-48090800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:48081000-48093800	Weak transcription	Pancreas	Pancrea
18	chr3:48081200-48093600	Weak transcription	Psoas Muscle	Psoas
19	chr3:48081400-48089000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:48081400-48089600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:48081400-48098800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:48081400-48110600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:48081400-48128400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:48081600-48089600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:48081600-48090200	Weak transcription	Fetal Lung	lung
26	chr3:48081600-48090400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:48081600-48092000	Weak transcription	Stomach Mucosa	stomach
28	chr3:48081600-48092400	Weak transcription	Brain Germinal Matrix	brain
29	chr3:48081600-48093200	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:48081600-48096400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:48081600-48096400	Weak transcription	Fetal Brain Female	brain
32	chr3:48081600-48099200	Weak transcription	Ovary	ovary
33	chr3:48081600-48099600	Weak transcription	Brain Anterior Caudate	brain
34	chr3:48081600-48099600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:48081600-48099800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:48081600-48100400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:48081600-48100600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:48081600-48105800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:48081800-48087600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:48081800-48089200	Weak transcription	HSMMtube	muscle
41	chr3:48081800-48089400	Weak transcription	HUVEC	blood vessel
42	chr3:48081800-48089600	Weak transcription	Adipose Nuclei	Adipose
43	chr3:48081800-48090400	Weak transcription	Liver	Liver
44	chr3:48081800-48090600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:48081800-48090600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr3:48081800-48092000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:48081800-48093400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:48081800-48094000	Weak transcription	Fetal Kidney	kidney
49	chr3:48081800-48096400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:48081800-48098800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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