Variant report

Variant	rs6695724
Chromosome Location	chr1:192762920-192762921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr1:192762902-192762938	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192762496..192765465-chr1:192982382..192985012,2	K562	blood:

Variant related genes	Relation type
ENSG00000228687	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4657836	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658068	1.00[AMR][1000 genomes]
rs4658072	1.00[AMR][1000 genomes]
rs7547089	1.00[AMR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192757800-192765200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:192758200-192763000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:192758400-192763200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:192758600-192763400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:192761600-192764000	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:192762000-192770000	Weak transcription	Fetal Lung	lung
7	chr1:192762600-192763000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:192762600-192763800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:192762600-192764000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:192762600-192764800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:192762600-192765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:192762600-192766200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:192762800-192763000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:192762800-192763600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:192762800-192763600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:192762800-192763600	Enhancers	Colon Smooth Muscle	Colon
17	chr1:192762800-192763800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:192762800-192764000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:192762800-192764800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:192762800-192765000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:192762800-192765400	Enhancers	HUES6 Cell Line	embryonic stem cell

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