Variant report

Variant	rs1933599
Chromosome Location	chr1:209331069-209331070
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	POLR2A	chr1:209330820-209331663	H1-neurons	neurons:	n/a	n/a
2	MAFK	chr1:209330828-209331177	H1-hESC	embryonic stem cell:	n/a	n/a
3	GTF2F1	chr1:209331043-209331087	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr1:209330917-209331212	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr1:209330844-209331168	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:209330810-209331626	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000232537	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10863762	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119216	1.00[EUR][1000 genomes]
rs11119241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093615	1.00[EUR][1000 genomes]
rs1320542	1.00[EUR][1000 genomes]
rs1933605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1933609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1933615	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1933617	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1933618	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1953754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2039177	1.00[AMR][1000 genomes]
rs2095766	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2105164	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2185096	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2211046	1.00[AMR][1000 genomes]
rs2250698	1.00[AMR][1000 genomes]
rs2788157	1.00[AMR][1000 genomes]
rs2788169	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788171	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2800917	1.00[AMR][1000 genomes]
rs2800918	1.00[AMR][1000 genomes]
rs2843177	1.00[AMR][1000 genomes]
rs4240830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844777	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844778	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4844788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665600	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6668118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681778	1.00[EUR][1000 genomes]
rs6681976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682089	1.00[EUR][1000 genomes]
rs7529040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv873137	chr1:209301571-209338673	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv522816	chr1:209325038-209342622	Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209327800-209332000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr1:209328200-209331600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:209328200-209334000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:209328400-209331200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr1:209328400-209332400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:209328400-209334000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:209329200-209333200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:209329600-209335800	Weak transcription	HSMM	muscle
9	chr1:209329800-209331600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:209329800-209332400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:209330000-209333200	Weak transcription	HSMMtube	muscle
12	chr1:209330200-209331200	Weak transcription	Fetal Brain Male	brain
13	chr1:209330200-209333000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:209330800-209331800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:209330800-209332000	Enhancers	Fetal Muscle Leg	muscle
16	chr1:209330800-209332400	Enhancers	Fetal Brain Female	brain
17	chr1:209331000-209331400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:209331000-209331800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:209331000-209334000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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