Variant report

Variant	rs6946211
Chromosome Location	chr7:121554791-121554792
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12669706	0.89[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs1916885	0.89[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs2191783	0.89[CHB][hapmap];0.84[JPT][hapmap];0.80[MEX][hapmap]
rs3801377	0.89[MKK][hapmap]
rs56265902	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6971645	0.89[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.80[ASN][1000 genomes]
rs73229136	0.80[ASN][1000 genomes]
rs73229144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641678	0.89[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.80[ASN][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	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121531200-121558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:121545600-121571400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:121550000-121554800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:121550200-121555000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:121550600-121561400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:121551800-121555800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:121552200-121558000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:121552400-121555200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:121553000-121555200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:121553400-121554800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:121553400-121554800	Weak transcription	Brain Anterior Caudate	brain
12	chr7:121553400-121555000	Weak transcription	Fetal Brain Female	brain
13	chr7:121553600-121555000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:121553600-121555600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:121553800-121555400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:121554200-121555000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:121554200-121555400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:121554200-121556400	Weak transcription	Fetal Brain Male	brain
19	chr7:121554600-121554800	Enhancers	Brain Substantia Nigra	brain
20	chr7:121554600-121555000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:121554600-121555000	Enhancers	Brain Germinal Matrix	brain
22	chr7:121554600-121555200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:121554600-121555400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:121554600-121555600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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