Variant report

Variant	rs1229674
Chromosome Location	chr7:26455770-26455771
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1229672	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229675	1.00[ASN][1000 genomes]
rs1229676	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229680	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229682	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229683	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229685	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229686	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229687	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229688	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229690	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1236949	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1318640	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2698728	0.81[AMR][1000 genomes];1.00[ASN][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	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1229674	LOC441204	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26440800-26460200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:26446000-26471200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:26446800-26459800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:26452600-26458000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:26453400-26457800	Weak transcription	Fetal Lung	lung
6	chr7:26453400-26468400	Weak transcription	Pancreas	Pancrea
7	chr7:26453600-26462600	Weak transcription	Lung	lung
8	chr7:26453800-26456600	Weak transcription	K562	blood
9	chr7:26453800-26457000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:26455200-26456000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:26455200-26456000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:26455400-26455800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:26455400-26455800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:26455400-26456000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:26455400-26456000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:26455400-26456000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:26455600-26456000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:26455600-26456000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:26455600-26457200	Enhancers	HUVEC	blood vessel

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Input of quick search could be:

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

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