Variant report

Variant	rs4951687
Chromosome Location	chr1:210807047-210807048
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	chr1:210805593..210807295-chr1:210811775..210814227,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10779542	0.80[GIH][hapmap]
rs4951488	0.82[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4951687	CR2	cis	cerebellum	SCAN
rs4951687	AVPR1B	cis	parietal	SCAN
rs4951687	C1orf107	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210795400-210822600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:210801600-210823000	Weak transcription	Aorta	Aorta
3	chr1:210802000-210815000	Weak transcription	Pancreas	Pancrea
4	chr1:210804800-210808000	Enhancers	Left Ventricle	heart
5	chr1:210805600-210807400	Enhancers	HSMMtube	muscle
6	chr1:210805600-210808600	Enhancers	Brain Anterior Caudate	brain
7	chr1:210805800-210808400	Enhancers	Brain Substantia Nigra	brain
8	chr1:210806000-210808400	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:210806200-210807200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:210806200-210808200	Enhancers	Brain Hippocampus Middle	brain
11	chr1:210806200-210808600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr1:210806600-210807400	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:210806600-210807800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:210806600-210808000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:210806600-210808000	Enhancers	Right Atrium	heart
16	chr1:210806600-210808200	Enhancers	Fetal Heart	heart
17	chr1:210806600-210808400	Enhancers	Brain Angular Gyrus	brain
18	chr1:210806800-210808400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:210807000-210807400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:210807000-210807800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:210807000-210807800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:210807000-210807800	Enhancers	HSMM	muscle

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