Variant report

Variant	rs35254155
Chromosome Location	chr17:19923633-19923634
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:19920482..19924140-chr17:19925056..19928088,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12449662	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12450857	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12453720	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12936794	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12944084	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12946508	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1638527	0.81[AMR][1000 genomes]
rs169413	0.81[AMR][1000 genomes]
rs17604987	0.81[AMR][1000 genomes]
rs17605101	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17668529	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17759041	0.92[AFR][1000 genomes]
rs2108981	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34182788	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34726000	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35315252	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35925051	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35979784	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36097967	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3862151	0.92[AFR][1000 genomes]
rs4577147	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4925063	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4925064	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4925071	0.92[AFR][1000 genomes]
rs4925074	0.92[AFR][1000 genomes]
rs56005410	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62066345	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62066346	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62066347	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62066348	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62066349	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62066350	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62066351	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62066352	0.82[AMR][1000 genomes]
rs62067482	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62067483	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7209653	0.83[AMR][1000 genomes]
rs8079923	0.81[AMR][1000 genomes]
rs9901294	0.83[AMR][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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35254155	SPECC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19914200-19925000	Weak transcription	Adipose Nuclei	Adipose
2	chr17:19914600-19928000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:19914600-19938400	Weak transcription	Brain Hippocampus Middle	brain
4	chr17:19921600-19926000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:19921600-19928000	Weak transcription	Brain Anterior Caudate	brain
6	chr17:19921600-19931600	Weak transcription	Ovary	ovary
7	chr17:19922200-19935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:19922400-19928400	Weak transcription	Aorta	Aorta
9	chr17:19923400-19930800	Weak transcription	K562	blood
10	chr17:19923400-19956600	Weak transcription	A549	lung
11	chr17:19923600-19926000	Weak transcription	Brain Angular Gyrus	brain
12	chr17:19923600-19946400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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