Variant report

Variant	rs72819638
Chromosome Location	chr17:38623231-38623232
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	chr17:38617896..38620878-chr17:38621784..38624449,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10153265	0.97[EUR][1000 genomes]
rs11078946	1.00[EUR][1000 genomes]
rs11078947	1.00[EUR][1000 genomes]
rs11871535	0.94[EUR][1000 genomes]
rs17472276	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56291600	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72819635	1.00[EUR][1000 genomes]
rs72819636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819640	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72819643	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72819648	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8078319	0.97[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38614000-38623400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr17:38614200-38629200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:38615400-38624600	Weak transcription	HSMM	muscle
4	chr17:38619000-38627200	Weak transcription	Spleen	Spleen
5	chr17:38619200-38627200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:38619200-38632000	Weak transcription	Right Atrium	heart
7	chr17:38619600-38627200	Weak transcription	NH-A	brain
8	chr17:38619600-38627400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:38619800-38627200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr17:38620600-38627200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:38620600-38627200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:38620600-38627200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:38620600-38632200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:38621000-38624800	Weak transcription	Fetal Kidney	kidney
15	chr17:38621000-38626200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:38621200-38625800	Weak transcription	A549	lung
17	chr17:38621200-38626600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr17:38621200-38627400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:38621200-38627400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:38621600-38627400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:38623000-38627200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr17:38623000-38627400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:38623200-38627200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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