Variant report

Variant	rs11803094
Chromosome Location	chr1:45010396-45010397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:44999769..45001806-chr1:45008456..45010652,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11211015	1.00[CEU][hapmap]
rs12568345	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12569316	1.00[CEU][hapmap]
rs34090807	0.93[EUR][1000 genomes]
rs58875175	0.93[EUR][1000 genomes]
rs60853517	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61351118	0.93[EUR][1000 genomes]
rs74070513	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];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	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
3	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
4	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
5	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
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44998800-45017800	Weak transcription	Right Atrium	heart
2	chr1:44998800-45022000	Weak transcription	HepG2	liver
3	chr1:45004800-45015200	Enhancers	Brain Substantia Nigra	brain
4	chr1:45007200-45015800	Enhancers	Brain Angular Gyrus	brain
5	chr1:45007600-45010400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:45007600-45011600	Enhancers	Brain Anterior Caudate	brain
7	chr1:45007600-45016600	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:45007600-45016600	Enhancers	Brain Hippocampus Middle	brain
9	chr1:45008000-45016400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:45008200-45012800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:45008800-45012800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:45009200-45012800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:45009600-45011400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr1:45009600-45012000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr1:45009600-45012400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:45009600-45021200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:45009800-45010800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
18	chr1:45009800-45012000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:45009800-45012000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr1:45009800-45012800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr1:45010000-45012400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr1:45010000-45012600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:45010000-45015000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:45010000-45015000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:45010000-45017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:45010200-45010600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:45010200-45011000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr1:45010200-45012600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr1:45010200-45013200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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