Variant report

Variant	rs12566628
Chromosome Location	chr1:210731905-210731906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs2490215	0.82[CEU][hapmap]
rs2490216	0.96[ASN][1000 genomes]
rs2490217	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2501911	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv549106	chr1:210698719-210736508	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1011702	chr1:210706323-210739030	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1003105	chr1:210717288-210739030	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1014480	chr1:210717288-210743026	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12566628	C1orf74	cis	cerebellum	SCAN
rs12566628	DTL	cis	parietal	SCAN
rs12566628	PIGR	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210730000-210742400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:210730600-210732400	Enhancers	K562	blood
3	chr1:210730800-210732000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:210730800-210732000	Enhancers	HSMMtube	muscle
5	chr1:210731200-210732400	Enhancers	Gastric	stomach
6	chr1:210731400-210732200	Enhancers	Stomach Mucosa	stomach
7	chr1:210731400-210732400	Enhancers	Fetal Lung	lung
8	chr1:210731400-210733600	Enhancers	Fetal Heart	heart
9	chr1:210731600-210732000	Enhancers	Left Ventricle	heart
10	chr1:210731600-210732200	Enhancers	Right Atrium	heart
11	chr1:210731600-210732400	Enhancers	Fetal Muscle Leg	muscle
12	chr1:210731600-210732600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:210731800-210732200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:210731800-210732200	Enhancers	Right Ventricle	heart
15	chr1:210731800-210732400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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