Variant report

Variant	rs17566172
Chromosome Location	chr1:220473570-220473571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220471708..220473237-chr1:220473384..220475197,2	K562	blood:
2	chr1:220445466..220447229-chr1:220473362..220475083,2	K562	blood:
3	chr1:220463505..220465025-chr1:220472451..220474318,2	K562	blood:
4	chr1:220472146..220476352-chr1:220476366..220479931,4	K562	blood:
5	chr1:220444172..220447229-chr1:220471859..220475083,5	K562	blood:
6	chr1:220466641..220469132-chr1:220471949..220474218,2	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17565738	0.86[AMR][1000 genomes]
rs17565935	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17567252	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17641091	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17641428	0.85[ASN][1000 genomes]
rs55673394	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55807644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914754	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55991348	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56040283	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56103229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56129807	0.81[AMR][1000 genomes]
rs72730664	0.81[AMR][1000 genomes]
rs72730666	0.81[AMR][1000 genomes]
rs72730668	0.81[AMR][1000 genomes]
rs72749215	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72749218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72749219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72749221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72749222	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72749226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72749236	0.88[ASN][1000 genomes]
rs7519416	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7520639	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7521141	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17566172	RP11-392O17.1	cis	Artery Tibial	GTEx
rs17566172	DUSP10	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220464200-220473600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:220464600-220473800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:220468400-220473600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:220468600-220473600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:220468600-220473600	Weak transcription	Fetal Stomach	stomach
6	chr1:220470800-220473600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:220471200-220473800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:220471400-220473600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:220471600-220473800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:220471600-220474000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:220472000-220473600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:220472400-220473800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:220472600-220473600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:220472600-220473600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:220472600-220473600	Weak transcription	Adipose Nuclei	Adipose
16	chr1:220472600-220473600	Weak transcription	Brain Germinal Matrix	brain
17	chr1:220472600-220473800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:220472600-220473800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:220472600-220473800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:220472600-220473800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:220472600-220473800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:220472600-220474000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:220472600-220474400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:220472800-220473800	Weak transcription	Fetal Brain Male	brain
25	chr1:220472800-220473800	Weak transcription	Fetal Brain Female	brain
26	chr1:220473200-220473600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:220473200-220473800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:220473200-220473800	Enhancers	K562	blood
29	chr1:220473200-220474000	Enhancers	Placenta	Placenta
30	chr1:220473200-220474800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:220473400-220473600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:220473400-220473600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:220473400-220473800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:220473400-220473800	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:220473400-220474000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:220473400-220474000	Enhancers	Osteobl	bone
37	chr1:220473400-220474400	Enhancers	Fetal Muscle Leg	muscle
38	chr1:220473400-220474600	Enhancers	Fetal Muscle Trunk	muscle
39	chr1:220473400-220474800	Enhancers	HUVEC	blood vessel
40	chr1:220473400-220475200	Enhancers	NH-A	brain
41	chr1:220473400-220475400	Enhancers	NHDF-Ad	bronchial

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