Variant report

Variant	rs3808154
Chromosome Location	chr7:126331987-126331988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:126331640..126334472-chr7:127032502..127035223,2	K562	blood:
2	chr7:126329105..126333653-chr7:126334255..126342288,12	K562	blood:
3	chr7:126326794..126328339-chr7:126330779..126333157,2	K562	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1008260	0.85[JPT][hapmap]
rs10227949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229765	0.82[JPT][hapmap]
rs10239010	0.82[JPT][hapmap]
rs10241618	0.85[JPT][hapmap]
rs10254233	0.97[TSI][hapmap]
rs10254445	0.85[JPT][hapmap]
rs10278284	0.88[GIH][hapmap]
rs11768413	1.00[JPT][hapmap]
rs11769307	1.00[JPT][hapmap]
rs11769459	0.85[JPT][hapmap]
rs11769491	0.85[JPT][hapmap]
rs12706742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12706746	0.82[JPT][hapmap]
rs12706747	0.85[JPT][hapmap]
rs13225829	1.00[JPT][hapmap]
rs13226065	0.85[JPT][hapmap]
rs13240076	0.85[JPT][hapmap]
rs13240418	0.85[JPT][hapmap]
rs13242233	0.85[JPT][hapmap]
rs1361983	0.89[GIH][hapmap];0.97[TSI][hapmap]
rs1361985	0.89[GIH][hapmap];0.97[TSI][hapmap]
rs1361986	0.83[TSI][hapmap]
rs1361988	0.85[JPT][hapmap]
rs1361998	0.85[JPT][hapmap]
rs1362005	0.85[JPT][hapmap]
rs1419492	0.85[JPT][hapmap]
rs1419496	0.97[TSI][hapmap]
rs1557646	0.85[JPT][hapmap]
rs1592370	0.82[JPT][hapmap]
rs17620525	0.85[JPT][hapmap]
rs17626816	0.84[JPT][hapmap]
rs17627206	0.85[JPT][hapmap]
rs17683174	0.84[JPT][hapmap]
rs17683391	0.85[JPT][hapmap]
rs17684592	0.82[JPT][hapmap]
rs17693362	0.82[JPT][hapmap]
rs1946109	0.85[JPT][hapmap]
rs1946113	0.92[GIH][hapmap];0.82[TSI][hapmap]
rs1989849	0.82[JPT][hapmap]
rs1989850	0.85[JPT][hapmap]
rs2023733	0.85[JPT][hapmap]
rs2023734	0.85[JPT][hapmap]
rs2023735	0.85[JPT][hapmap]
rs2106353	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs2157978	0.85[JPT][hapmap]
rs2237761	0.86[TSI][hapmap]
rs2283071	0.85[JPT][hapmap]
rs2283076	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs2283079	0.85[JPT][hapmap]
rs2299459	0.82[TSI][hapmap]
rs2299493	0.83[TSI][hapmap]
rs2299516	0.82[JPT][hapmap]
rs2299517	0.85[JPT][hapmap]
rs2299518	0.84[JPT][hapmap]
rs2299519	1.00[JPT][hapmap]
rs2402820	0.86[TSI][hapmap]
rs4728047	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4728053	0.85[JPT][hapmap]
rs4731323	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731330	0.85[JPT][hapmap]
rs4731331	0.85[JPT][hapmap]
rs55953926	0.86[EUR][1000 genomes]
rs6467099	0.85[JPT][hapmap]
rs67157588	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6951643	0.85[JPT][hapmap]
rs6951771	0.85[JPT][hapmap]
rs769198	1.00[CHB][hapmap]
rs7795337	0.97[TSI][hapmap]
rs7804631	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7809518	0.82[JPT][hapmap]
rs7810270	0.97[TSI][hapmap]
rs929175	1.00[JPT][hapmap]
rs929211	0.85[JPT][hapmap]
rs950789	1.00[JPT][hapmap]
rs954661	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032108	chr7:126278349-126362592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3808154	UBE2H	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126330800-126332000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr7:126331600-126332000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:126331600-126332200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:126331600-126332400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:126331600-126332600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr7:126331800-126332200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:126331800-126332800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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