Variant report

Variant	rs2594279
Chromosome Location	chr4:87865387-87865388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87863295..87865719-chr4:87926718..87928690,2	MCF-7	breast:
2	chr4:87864895..87867766-chr4:87868101..87870668,2	MCF-7	breast:
3	chr4:87864190..87869754-chr4:87925812..87929793,8	K562	blood:
4	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10022539	0.94[ASN][1000 genomes]
rs12651081	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13102958	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13116978	0.91[ASN][1000 genomes]
rs1584346	0.92[ASN][1000 genomes]
rs2053775	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2594277	0.91[ASN][1000 genomes]
rs2594278	0.99[ASN][1000 genomes]
rs2705616	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2705618	0.91[ASN][1000 genomes]
rs2785	0.94[ASN][1000 genomes]
rs3109038	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3113493	0.91[ASN][1000 genomes]
rs3113494	0.91[ASN][1000 genomes]
rs3113495	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274814	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4536898	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs991852	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87857600-87882000	Weak transcription	Spleen	Spleen
2	chr4:87857800-87867800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:87857800-87880200	Weak transcription	HSMM	muscle
4	chr4:87858000-87867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:87858200-87866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:87858200-87869400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:87858600-87881000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr4:87859200-87865600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:87861000-87878000	Weak transcription	HMEC	breast
10	chr4:87861400-87865400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:87861400-87865800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:87861400-87866200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:87861400-87866200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:87861400-87867800	Weak transcription	Right Ventricle	heart
15	chr4:87861400-87868000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr4:87861400-87877200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:87861400-87880800	Weak transcription	Aorta	Aorta
18	chr4:87861600-87865600	Weak transcription	Left Ventricle	heart
19	chr4:87861600-87865800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:87861600-87868000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:87861600-87868000	Weak transcription	Fetal Lung	lung
22	chr4:87861600-87868000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:87861600-87868400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:87861600-87868400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:87861600-87869200	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:87861600-87870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:87861800-87866000	Weak transcription	Fetal Heart	heart
28	chr4:87861800-87866000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:87861800-87867800	Weak transcription	Esophagus	oesophagus
30	chr4:87861800-87868000	Weak transcription	Colonic Mucosa	Colon
31	chr4:87861800-87868200	Weak transcription	Adipose Nuclei	Adipose
32	chr4:87861800-87871600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:87861800-87871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:87861800-87878000	Weak transcription	Osteobl	bone
35	chr4:87861800-87880000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:87861800-87880600	Weak transcription	Fetal Kidney	kidney
37	chr4:87862000-87865800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:87862400-87865400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:87862400-87867800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:87862400-87871200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:87862600-87866200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:87863200-87868200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:87863400-87869200	Enhancers	Dnd41	blood
44	chr4:87863400-87871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:87863600-87866000	Enhancers	Pancreas	Pancrea
46	chr4:87863600-87866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:87863600-87867200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:87863600-87871800	Weak transcription	NHDF-Ad	bronchial
49	chr4:87863800-87866000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:87863800-87868200	Weak transcription	Primary T cells from cord blood	blood

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