Variant report

Variant	rs58250358
Chromosome Location	chr4:8462199-8462200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8448752..8450520-chr4:8461645..8464586,2	MCF-7	breast:
2	chr4:8458147..8460116-chr4:8460485..8462982,2	MCF-7	breast:
3	chr4:8455487..8458009-chr4:8461888..8464804,2	MCF-7	breast:
4	chr4:8457452..8459896-chr4:8461830..8464579,3	K562	blood:
5	chr4:8461947..8464709-chr4:8593943..8596548,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251186	Chromatin interaction
ENSG00000109625	Chromatin interaction
ENSG00000155275	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10002453	1.00[ASN][1000 genomes]
rs1357482	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568694	1.00[ASN][1000 genomes]
rs16842165	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222461	0.83[EUR][1000 genomes]
rs28551127	1.00[ASN][1000 genomes]
rs28627156	1.00[ASN][1000 genomes]
rs28647682	1.00[ASN][1000 genomes]
rs58141973	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59065368	1.00[ASN][1000 genomes]
rs61738667	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62287391	1.00[ASN][1000 genomes]
rs6810854	0.90[EUR][1000 genomes]
rs6814163	1.00[ASN][1000 genomes]
rs6815431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826283	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826302	1.00[ASN][1000 genomes]
rs6843048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853292	1.00[ASN][1000 genomes]
rs6853810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854153	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6855488	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7672913	0.90[EUR][1000 genomes]
rs954272	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884410	0.90[EUR][1000 genomes]
rs9995201	1.00[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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8446400-8463200	Strong transcription	Stomach Smooth Muscle	stomach
2	chr4:8446400-8473800	Strong transcription	Fetal Stomach	stomach
3	chr4:8446600-8463600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:8446600-8463600	Strong transcription	Thymus	Thymus
5	chr4:8446600-8464600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:8446600-8473400	Strong transcription	Dnd41	blood
7	chr4:8446600-8474000	Strong transcription	Fetal Muscle Leg	muscle
8	chr4:8446800-8463800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:8447000-8464000	Strong transcription	Primary B cells from cord blood	blood
10	chr4:8447000-8474400	Strong transcription	Fetal Brain Female	brain
11	chr4:8447000-8475200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:8447000-8480200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:8447200-8464200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:8447200-8473000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:8447200-8480200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:8447400-8463600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:8447400-8474000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
19	chr4:8447600-8464000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:8447600-8472200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:8447600-8473400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr4:8447800-8463400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:8447800-8463400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:8447800-8463600	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:8447800-8463800	Strong transcription	Brain Cingulate Gyrus	brain
26	chr4:8447800-8472800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:8448000-8463200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr4:8448000-8463600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:8448200-8463800	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr4:8448200-8467400	Strong transcription	Adipose Nuclei	Adipose
31	chr4:8449600-8463600	Strong transcription	Spleen	Spleen
32	chr4:8450800-8463600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:8451000-8463600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:8451200-8473600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:8452000-8463600	Strong transcription	Brain Anterior Caudate	brain
36	chr4:8452400-8463600	Strong transcription	Brain Germinal Matrix	brain
37	chr4:8452600-8463600	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:8452600-8464200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:8452800-8463200	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr4:8452800-8463600	Strong transcription	Brain Hippocampus Middle	brain
41	chr4:8452800-8463800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:8453000-8463200	Strong transcription	Brain Angular Gyrus	brain
43	chr4:8453000-8463800	Strong transcription	NHEK	skin
44	chr4:8453800-8463600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:8454200-8463600	Strong transcription	Lung	lung
46	chr4:8454200-8464200	Strong transcription	Left Ventricle	heart
47	chr4:8456000-8469800	Weak transcription	Stomach Mucosa	stomach
48	chr4:8456200-8467200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:8456400-8462800	Weak transcription	Fetal Kidney	kidney
50	chr4:8456400-8467000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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