Variant report

Variant	rs3775209
Chromosome Location	chr4:88046946-88046947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88042372..88045349-chr4:88046693..88048270,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10023056	0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10029915	0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10032710	0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151450	0.88[ASN][1000 genomes]
rs151451	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17012334	0.82[EUR][1000 genomes]
rs17012512	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17605615	0.88[ASN][1000 genomes]
rs1842685	0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2035403	0.90[ASN][1000 genomes]
rs2061498	0.83[EUR][1000 genomes]
rs236676	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3733377	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736668	0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3755980	0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755983	0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755985	0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3775211	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775226	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55982755	0.83[EUR][1000 genomes]
rs60695258	0.90[ASN][1000 genomes]
rs66477840	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
6	nsv1007020	chr4:88046263-88235018	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv537169	chr4:88046263-88235018	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88019000-88072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:88026400-88063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:88026600-88055600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:88030000-88048800	Weak transcription	A549	lung
5	chr4:88030600-88057600	Weak transcription	Brain Germinal Matrix	brain
6	chr4:88032800-88059000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr4:88033600-88047600	Weak transcription	HSMM	muscle
8	chr4:88035600-88056800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:88035600-88063800	Strong transcription	Primary T cells from cord blood	blood
10	chr4:88036400-88063600	Weak transcription	Fetal Brain Male	brain
11	chr4:88036800-88059200	Weak transcription	Fetal Brain Female	brain
12	chr4:88038800-88047000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:88040000-88047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:88040000-88052000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:88041200-88048800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:88042400-88049000	Strong transcription	HepG2	liver
17	chr4:88042800-88069400	Strong transcription	Placenta	Placenta
18	chr4:88043000-88061400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr4:88043200-88047800	Weak transcription	NH-A	brain
20	chr4:88043400-88048600	Weak transcription	Stomach Mucosa	stomach
21	chr4:88043400-88064800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:88043600-88047200	Weak transcription	Osteobl	bone
23	chr4:88043600-88049000	Weak transcription	Right Atrium	heart
24	chr4:88043600-88064600	Strong transcription	GM12878-XiMat	blood
25	chr4:88043800-88048600	Weak transcription	Brain Angular Gyrus	brain
26	chr4:88043800-88048800	Weak transcription	Hela-S3	cervix
27	chr4:88043800-88049000	Weak transcription	Psoas Muscle	Psoas
28	chr4:88044000-88049400	Weak transcription	Fetal Heart	heart
29	chr4:88044400-88047200	Genic enhancers	Liver	Liver
30	chr4:88044400-88060800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:88044600-88059200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr4:88044600-88060200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:88044600-88061400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:88044600-88061600	Strong transcription	Fetal Intestine Large	intestine
35	chr4:88044600-88062200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr4:88044600-88067600	Strong transcription	Primary B cells from cord blood	blood
37	chr4:88044800-88059400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr4:88044800-88061400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr4:88044800-88061600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr4:88045000-88060400	Strong transcription	Primary hematopoietic stem cells	blood
41	chr4:88045200-88057800	Strong transcription	HUVEC	blood vessel
42	chr4:88045400-88050000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:88045600-88047400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:88045600-88057600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:88045600-88058800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:88045600-88059200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:88045600-88059600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:88045600-88060400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:88045600-88063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:88045600-88063800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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