Variant report

Variant	rs58675622
Chromosome Location	chr5:90392269-90392270
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90389673..90399904-chr5:90673387..90683638,16	K562	blood:
2	chr5:90390679..90392403-chr5:90678424..90680651,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56072107	1.00[AMR][1000 genomes]
rs56380505	1.00[AMR][1000 genomes]
rs57330847	1.00[AMR][1000 genomes]
rs57931656	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58577202	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59760061	1.00[AMR][1000 genomes]
rs61195095	1.00[AMR][1000 genomes]
rs73771169	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771171	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771174	1.00[AMR][1000 genomes]
rs73771177	1.00[AMR][1000 genomes]
rs73771178	1.00[AMR][1000 genomes]
rs73771179	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	84 gene(s)	inside rSNPs	diseases
3	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90370600-90397600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:90385800-90397400	Weak transcription	Fetal Lung	lung
3	chr5:90386800-90400800	Weak transcription	K562	blood
4	chr5:90387000-90392400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:90387200-90392400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:90387200-90392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:90387800-90397600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:90390800-90394400	Weak transcription	HSMM	muscle
9	chr5:90391000-90394400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:90391000-90397000	Weak transcription	A549	lung
11	chr5:90391200-90392800	Enhancers	Brain Anterior Caudate	brain
12	chr5:90391200-90393200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:90391200-90395000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:90391400-90393600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:90391600-90392600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:90391600-90392800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:90391600-90392800	Enhancers	Brain Germinal Matrix	brain
18	chr5:90391800-90392400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:90391800-90392400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:90391800-90392600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:90391800-90392600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:90391800-90392800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:90391800-90392800	Enhancers	Rectal Smooth Muscle	rectum
24	chr5:90391800-90393000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:90391800-90397600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:90392000-90392400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr5:90392000-90392400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:90392000-90392600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:90392000-90393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:90392000-90393000	Enhancers	Colon Smooth Muscle	Colon
31	chr5:90392000-90393000	Enhancers	Fetal Kidney	kidney
32	chr5:90392000-90397400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:90392000-90397400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:90392000-90400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:90392200-90392400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr5:90392200-90392400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:90392200-90392400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr5:90392200-90392600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:90392200-90392800	Enhancers	Fetal Heart	heart
40	chr5:90392200-90393000	Enhancers	Fetal Brain Male	brain
41	chr5:90392200-90400800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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