Variant report

Variant	rs17006717
Chromosome Location	chr4:141875227-141875228
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	chr4:141857760..141859447-chr4:141874857..141876675,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11100696	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13136292	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3909595	0.91[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs7666146	0.90[EUR][1000 genomes]
rs7689080	1.00[ASW][hapmap];0.91[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.84[LWK][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830090	chr4:141770494-141947764	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830091	chr4:141796603-141980546	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv880168	chr4:141826780-141900370	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17006717	RAB33B	cis	parietal	SCAN
rs17006717	SMARCA5	cis	cerebellum	SCAN
rs17006717	XAGE3	trans	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141856000-141875600	Weak transcription	Fetal Kidney	kidney
2	chr4:141861400-141876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:141861400-141876600	Weak transcription	Aorta	Aorta
4	chr4:141862200-141891000	Weak transcription	Psoas Muscle	Psoas
5	chr4:141863800-141880600	Weak transcription	Left Ventricle	heart
6	chr4:141864200-141879200	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:141865800-141876600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:141866200-141875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:141866200-141876200	Weak transcription	Fetal Stomach	stomach
10	chr4:141867800-141879000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:141868800-141887400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:141869000-141877200	Weak transcription	Ovary	ovary
13	chr4:141869000-141879400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:141869000-141879600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:141869000-141889000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:141870200-141876000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:141873400-141875400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:141874000-141875400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:141874200-141875600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:141874200-141876600	Weak transcription	Osteobl	bone
21	chr4:141874400-141876400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:141874600-141875600	Weak transcription	Fetal Heart	heart
23	chr4:141874800-141875400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:141875000-141877200	Enhancers	Colon Smooth Muscle	Colon
25	chr4:141875200-141875400	Enhancers	Right Ventricle	heart
26	chr4:141875200-141877600	Enhancers	Fetal Lung	lung

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