Variant report

Variant	rs7948697
Chromosome Location	chr11:108503546-108503547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1017845	1.00[EUR][1000 genomes]
rs10400217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10400270	0.84[AFR][1000 genomes]
rs10400318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11212779	1.00[EUR][1000 genomes]
rs12099333	1.00[EUR][1000 genomes]
rs17108271	1.00[EUR][1000 genomes]
rs2640772	1.00[EUR][1000 genomes]
rs2852204	1.00[EUR][1000 genomes]
rs58222580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6589026	1.00[EUR][1000 genomes]
rs6589027	1.00[EUR][1000 genomes]
rs73554932	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948491	1.00[EUR][1000 genomes]
rs990252	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr11:108500600-108507000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:108502800-108503600	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr11:108502800-108503600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:108502800-108503600	Enhancers	Aorta	Aorta
5	chr11:108502800-108503800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:108502800-108503800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr11:108502800-108503800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:108502800-108503800	Enhancers	HSMMtube	muscle
9	chr11:108503000-108503600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:108503000-108503800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:108503000-108503800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:108503000-108503800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:108503000-108504000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:108503000-108504000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:108503200-108504800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:108503200-108507400	Enhancers	Placenta	Placenta
17	chr11:108503400-108503800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:108503400-108504000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:108503400-108505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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