Variant report

Variant	rs11211007
Chromosome Location	chr1:44953240-44953241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11210998	1.00[ASN][1000 genomes]
rs11211009	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12086851	1.00[ASN][1000 genomes]
rs12091565	1.00[ASN][1000 genomes]
rs12136081	0.85[EUR][1000 genomes]
rs12754891	1.00[ASN][1000 genomes]
rs35599252	0.81[EUR][1000 genomes]
rs4660276	1.00[ASN][1000 genomes]
rs4660277	1.00[ASN][1000 genomes]
rs4660806	0.85[EUR][1000 genomes]
rs6700481	0.87[EUR][1000 genomes]
rs67875295	1.00[ASN][1000 genomes]
rs7354900	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs895094	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs950587	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1010785	chr1:44407804-44974324	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv534938	chr1:44407804-44974324	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
5	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
6	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
7	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 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	chr1:44952000-44955200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:44952000-44955200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:44952000-44955200	Weak transcription	NH-A	brain
4	chr1:44952000-44966200	Weak transcription	Right Atrium	heart
5	chr1:44952200-44954600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:44952400-44954800	Weak transcription	Osteobl	bone
7	chr1:44952400-44955000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:44952400-44960000	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:44952600-44953400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:44952600-44953800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:44952600-44954800	Weak transcription	HSMM	muscle
12	chr1:44952600-44955000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:44952600-44955200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:44952600-44955200	Weak transcription	HSMMtube	muscle
15	chr1:44952600-44961000	Weak transcription	Brain Substantia Nigra	brain
16	chr1:44952600-44961200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:44952800-44954200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:44952800-44955000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:44952800-44961600	Weak transcription	Brain Angular Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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