Variant report

Variant	rs4845392
Chromosome Location	chr1:154742575-154742576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154741499..154743440-chr1:154745848..154747913,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1131820	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs12087736	1.00[JPT][hapmap]
rs1777930	1.00[JPT][hapmap]
rs4492614	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4845392	YY1AP1	cis	cerebellum	SCAN
rs4845392	TMEM79	cis	parietal	SCAN
rs4845392	CLEC12B	trans	cerebellum	SCAN
rs4845392	EFNA3	cis	cerebellum	SCAN
rs4845392	HIST2H2BE	cis	parietal	SCAN
rs4845392	LCE3C	cis	cerebellum	SCAN
rs4845392	S100A7L2	cis	parietal	SCAN
rs4845392	HRNR	cis	parietal	SCAN
rs4845392	C1orf66	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154733400-154743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:154733400-154744200	Weak transcription	Spleen	Spleen
3	chr1:154733400-154746400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:154740200-154744800	Weak transcription	Colonic Mucosa	Colon
5	chr1:154740400-154744000	Weak transcription	Fetal Brain Female	brain
6	chr1:154740400-154746000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:154740400-154747600	Weak transcription	Fetal Brain Male	brain
8	chr1:154740800-154746000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:154740800-154746200	Weak transcription	Brain Angular Gyrus	brain
10	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
11	chr1:154741000-154744200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:154741200-154743800	Weak transcription	HSMMtube	muscle
13	chr1:154741200-154745600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:154741400-154745200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:154741400-154745600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:154741400-154745600	Weak transcription	Thymus	Thymus
17	chr1:154741400-154746200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:154741400-154746600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:154741600-154742800	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:154741600-154743200	Genic enhancers	GM12878-XiMat	blood
21	chr1:154741600-154744000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:154741800-154742800	Strong transcription	Fetal Stomach	stomach
23	chr1:154741800-154745800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:154741800-154746000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr1:154742000-154744200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:154742000-154744800	Strong transcription	Fetal Muscle Leg	muscle
27	chr1:154742200-154743200	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:154742200-154744000	Strong transcription	Brain Anterior Caudate	brain
29	chr1:154742200-154751400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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