Variant report

Variant	rs7722301
Chromosome Location	chr5:90473206-90473207
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	chr5:90471497..90473890-chr5:90676230..90677792,2	MCF-7	breast:
2	chr5:90470576..90474856-chr5:90676109..90680019,6	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10065773	1.00[EUR][1000 genomes]
rs16869400	1.00[EUR][1000 genomes]
rs16869402	1.00[EUR][1000 genomes]
rs16869424	1.00[EUR][1000 genomes]
rs16869431	1.00[EUR][1000 genomes]
rs16869437	1.00[EUR][1000 genomes]
rs16869489	1.00[EUR][1000 genomes]
rs59753442	1.00[EUR][1000 genomes]
rs6452943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6879069	1.00[EUR][1000 genomes]
rs6897191	1.00[EUR][1000 genomes]
rs7702079	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7702715	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7712139	1.00[EUR][1000 genomes]
rs7712353	1.00[EUR][1000 genomes]
rs7723655	1.00[EUR][1000 genomes]
rs7726939	1.00[EUR][1000 genomes]
rs7731268	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90462600-90473800	Weak transcription	Osteobl	bone
2	chr5:90465600-90473400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:90467600-90485600	Weak transcription	Fetal Intestine Small	intestine
4	chr5:90468000-90478400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:90471800-90473400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:90471800-90473400	Weak transcription	NHLF	lung
7	chr5:90472200-90474000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:90472400-90478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:90472600-90473400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:90472600-90474200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:90472800-90474000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:90472800-90478200	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:90472800-90478400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:90473000-90473400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:90473000-90473400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:90473000-90473600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:90473000-90473800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:90473000-90478000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:90473200-90473400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:90473200-90478000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:90473200-90478200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:90473200-90478200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:90473200-90478400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:90473200-90479400	Weak transcription	Colon Smooth Muscle	Colon

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