Variant report

Variant	rs11183927
Chromosome Location	chr12:47777972-47777973
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	chr12:47776547..47778340-chr12:47788704..47790510,2	K562	blood:
2	chr12:47777847..47780097-chr12:47782346..47783889,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11183910	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183911	0.86[AMR][1000 genomes]
rs11183912	0.86[AMR][1000 genomes]
rs11183915	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11183918	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183921	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183922	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183923	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11183924	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12371209	0.86[AMR][1000 genomes]
rs1642941	0.84[AMR][1000 genomes]
rs215343	0.82[ASW][hapmap];0.93[MEX][hapmap];0.82[ASN][1000 genomes]
rs215348	1.00[ASW][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap]
rs215352	0.92[ASN][1000 genomes]
rs215353	0.92[ASN][1000 genomes]
rs215360	0.84[ASW][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap]
rs215362	0.82[ASW][hapmap];0.86[MEX][hapmap]
rs215363	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs215366	0.92[ASN][1000 genomes]
rs215368	0.92[ASN][1000 genomes]
rs215370	1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs215371	1.00[YRI][hapmap]
rs215376	0.92[ASN][1000 genomes]
rs215382	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs215383	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs215385	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs215387	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs215390	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs215393	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs215394	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs215395	0.83[AMR][1000 genomes]
rs215396	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61927860	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61927894	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61927895	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61927896	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61929787	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11183927	HDAC7	cis	cerebellum	SCAN

Chromatin state (count:38 , 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	chr12:47775600-47778200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:47776200-47778600	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:47776200-47779400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:47777200-47779000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr12:47777400-47778800	Enhancers	HUVEC	blood vessel
9	chr12:47777600-47778000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:47777600-47778000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:47777600-47778000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:47777600-47778000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:47777600-47778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:47777600-47778000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:47777600-47778000	Enhancers	Colon Smooth Muscle	Colon
16	chr12:47777600-47778000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr12:47777600-47778000	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:47777600-47778000	Enhancers	Hela-S3	cervix
19	chr12:47777600-47778000	Enhancers	HMEC	breast
20	chr12:47777600-47778000	Enhancers	HSMMtube	muscle
21	chr12:47777600-47778000	Enhancers	NH-A	brain
22	chr12:47777600-47778200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:47777600-47778200	Enhancers	Primary T cells from cord blood	blood
24	chr12:47777600-47778400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:47777600-47778400	Enhancers	Fetal Heart	heart
26	chr12:47777600-47778400	Enhancers	Fetal Lung	lung
27	chr12:47777600-47778400	Flanking Active TSS	A549	lung
28	chr12:47777600-47778400	Enhancers	Osteobl	bone
29	chr12:47777600-47779400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr12:47777800-47778000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:47777800-47778000	Enhancers	Adipose Nuclei	Adipose
32	chr12:47777800-47778000	Enhancers	Fetal Brain Female	brain
33	chr12:47777800-47778000	Enhancers	Ovary	ovary
34	chr12:47777800-47778000	Enhancers	Right Atrium	heart
35	chr12:47777800-47778200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr12:47777800-47778200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:47777800-47778600	Enhancers	Fetal Kidney	kidney
38	chr12:47777800-47784400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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