Variant report

Variant	rs1841265
Chromosome Location	chr4:87993946-87993947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87991257..87994898-chr4:87995752..87998471,3	MCF-7	breast:
2	chr4:87929393..87932319-chr4:87992706..87994245,2	K562	blood:
3	chr4:87927884..87929390-chr4:87993723..87995329,2	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10018897	0.83[AMR][1000 genomes]
rs10516789	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs168204	0.83[EUR][1000 genomes]
rs236674	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs236675	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs236678	0.83[AMR][1000 genomes]
rs236685	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs236686	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs236687	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2869642	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3116679	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs342457	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3775225	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3822042	0.83[AMR][1000 genomes]
rs384059	0.82[AMR][1000 genomes]
rs390604	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs393991	0.82[AMR][1000 genomes]
rs9992235	0.84[AMR][1000 genomes];0.82[EUR][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	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	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
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87964600-87995000	Weak transcription	Hela-S3	cervix
2	chr4:87968800-87995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:87969000-87994600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:87980000-87994000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:87981000-87994600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:87981200-87994000	Weak transcription	HUVEC	blood vessel
7	chr4:87981200-87994200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:87982600-87994000	Weak transcription	Primary T cells from cord blood	blood
9	chr4:87982600-87999600	Weak transcription	K562	blood
10	chr4:87982800-87994600	Weak transcription	Thymus	Thymus
11	chr4:87982800-87995000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:87983000-87994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:87983000-87994000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr4:87983000-87994000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:87983000-87994000	Weak transcription	HepG2	liver
16	chr4:87983000-87994400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:87983600-87994400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:87984000-87994800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:87988800-87994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:87988800-87994200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:87989000-87994000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:87989200-87994000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:87989400-87994000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:87990000-87994000	Weak transcription	NHLF	lung
25	chr4:87990000-87994400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:87990200-87994000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:87990200-87994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:87990200-87994000	Weak transcription	Stomach Mucosa	stomach
29	chr4:87990200-87994000	Weak transcription	NHDF-Ad	bronchial
30	chr4:87990200-87994000	Weak transcription	NHEK	skin
31	chr4:87990200-87994400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:87990200-87994400	Weak transcription	Fetal Stomach	stomach
33	chr4:87990200-87994600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:87990200-87994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:87990200-87994600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:87990200-87994600	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:87990200-87994600	Weak transcription	Fetal Thymus	thymus
38	chr4:87990200-87995000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:87990200-87995000	Weak transcription	Lung	lung
40	chr4:87990200-87995000	Weak transcription	Ovary	ovary
41	chr4:87990200-87999400	Weak transcription	Gastric	stomach
42	chr4:87990200-87999600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:87990200-88008000	Weak transcription	Spleen	Spleen
44	chr4:87990400-87994000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:87990400-87994200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:87990400-87994200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:87990400-87994400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr4:87990400-87994400	Enhancers	Colon Smooth Muscle	Colon
49	chr4:87990400-87994600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr4:87990400-87995000	Weak transcription	H9 Cell Line	embryonic stem cell

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