Variant report

Variant	rs17262815
Chromosome Location	chr8:130491165-130491166
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	chr8:130486576..130489479-chr8:130489655..130491776,3	K562	blood:
2	chr8:130476943..130484127-chr8:130486022..130491772,8	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10087235	1.00[JPT][hapmap]
rs10094748	1.00[JPT][hapmap]
rs10104020	1.00[JPT][hapmap]
rs10505541	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10505542	1.00[CHB][hapmap]
rs10956474	1.00[JPT][hapmap]
rs10956476	1.00[JPT][hapmap]
rs1108353	0.81[EUR][1000 genomes]
rs12164231	1.00[JPT][hapmap]
rs12234967	1.00[JPT][hapmap]
rs12335056	1.00[JPT][hapmap]
rs16904080	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16904084	0.82[EUR][1000 genomes]
rs1897449	0.84[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2017455	0.81[EUR][1000 genomes]
rs2196074	0.84[CEU][hapmap]
rs61684115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67674260	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72714249	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72714253	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72714255	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72714268	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73391885	0.83[EUR][1000 genomes]
rs736863	0.83[EUR][1000 genomes]
rs755958	0.81[EUR][1000 genomes]
rs919702	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9297787	1.00[JPT][hapmap]
rs9297788	1.00[JPT][hapmap]

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	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hypospadias	25108383	GWAS catalog

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130475800-130492000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:130485600-130491400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:130487800-130494800	Genic enhancers	K562	blood
4	chr8:130488000-130492600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:130488200-130491600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:130488400-130491400	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:130488400-130491800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:130488800-130491600	Weak transcription	Fetal Stomach	stomach
9	chr8:130489800-130492000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:130489800-130492200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:130489800-130492800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:130490000-130491600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:130490000-130492200	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:130490000-130492400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:130490200-130491400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:130490200-130491600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:130490200-130491800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:130490200-130492000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:130490200-130492000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:130490200-130492000	Weak transcription	HSMM	muscle
21	chr8:130490200-130492000	Weak transcription	HSMMtube	muscle
22	chr8:130490200-130492200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr8:130490200-130492200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:130490200-130492200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:130490200-130492200	Weak transcription	Brain Angular Gyrus	brain
26	chr8:130490200-130492600	Weak transcription	NHDF-Ad	bronchial
27	chr8:130490200-130503400	Weak transcription	Dnd41	blood
28	chr8:130490400-130491600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:130490400-130492000	Weak transcription	Osteobl	bone
30	chr8:130490400-130492400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:130490600-130492000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:130490600-130492000	Weak transcription	NH-A	brain
33	chr8:130491000-130492600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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