Variant report

Variant	rs6582706
Chromosome Location	chr12:47779464-47779465
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	chr12:47777847..47780097-chr12:47782346..47783889,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10748469	0.80[AMR][1000 genomes]
rs10785676	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10881097	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10881099	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183919	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58058166	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6582705	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7956037	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7969338	0.83[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6582706	RPAP3	cis	parietal	SCAN
rs6582706	HDAC7	cis	parietal	SCAN
rs6582706	SLC38A4	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47771600-47786800	Weak transcription	Fetal Brain Male	brain
2	chr12:47773400-47781600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:47773400-47784400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:47777800-47784400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:47778000-47783000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:47778000-47790600	Weak transcription	Right Atrium	heart
7	chr12:47778200-47779800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:47778200-47784400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:47778400-47779600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:47778400-47779600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:47778800-47779800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:47778800-47779800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:47778800-47779800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:47778800-47779800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:47778800-47786400	Weak transcription	HUVEC	blood vessel
16	chr12:47779000-47782400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:47779000-47782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:47779200-47779800	Enhancers	Colon Smooth Muscle	Colon
19	chr12:47779200-47779800	Enhancers	Fetal Brain Female	brain
20	chr12:47779400-47779600	Enhancers	A549	lung
21	chr12:47779400-47781000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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