Variant report

Variant	rs1246911
Chromosome Location	chr4:166531983-166531984
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1246912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1246915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1246922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1320223	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1914841	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1914842	1.00[EUR][1000 genomes]
rs1914843	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1996568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2679905	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4091535	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4691207	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6855009	0.86[EUR][1000 genomes]
rs7692810	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[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	nsv830141	chr4:166502908-166689626	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr4:166525400-166533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:166525600-166532000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:166525600-166539200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:166528000-166532200	Weak transcription	Adipose Nuclei	Adipose
5	chr4:166530400-166536000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:166530600-166532600	Enhancers	Colon Smooth Muscle	Colon
7	chr4:166530600-166534200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:166530600-166535400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:166530800-166533000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:166530800-166535200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:166531200-166533600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:166531400-166533800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:166531400-166534200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:166531600-166532000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:166531600-166532000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:166531600-166532000	Enhancers	Rectal Smooth Muscle	rectum
17	chr4:166531600-166532600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:166531600-166533800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:166531600-166536000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:166531800-166532200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:166531800-166532200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:166531800-166532200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:166531800-166533600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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