Variant report

Variant	rs11760083
Chromosome Location	chr6:24932172-24932173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24930706..24933107-chr6:24936123..24938054,3	K562	blood:
2	chr6:24928799..24930650-chr6:24931112..24934002,2	K562	blood:

Variant related genes	Relation type
ENSG00000111913	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10946736	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190789	1.00[MKK][hapmap]
rs1410684	0.81[ASN][1000 genomes]
rs16889798	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813680	1.00[MKK][hapmap]
rs587009	0.89[CHB][hapmap];1.00[CHD][hapmap]
rs6929465	0.87[CHB][hapmap]
rs9461082	0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs9467355	0.81[ASN][1000 genomes]

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	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11760083	FKSG83	cis	cerebellum	SCAN
rs11760083	PGBD1	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24926800-24934400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
2	chr6:24927200-24933600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
3	chr6:24927400-24932200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr6:24927600-24932400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
5	chr6:24927800-24932800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:24927800-24933200	Enhancers	HSMM	muscle
7	chr6:24927800-24934400	Enhancers	HSMMtube	muscle
8	chr6:24928000-24933400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:24928000-24934200	Enhancers	Fetal Lung	lung
10	chr6:24928200-24933000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:24928400-24932600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:24928400-24933000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:24928400-24933400	Enhancers	Fetal Heart	heart
14	chr6:24928800-24933400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
15	chr6:24929000-24932600	Flanking Active TSS	GM12878-XiMat	blood
16	chr6:24929000-24935200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
17	chr6:24929200-24932400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
18	chr6:24929200-24932400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
19	chr6:24929400-24932200	Enhancers	Adipose Nuclei	Adipose
20	chr6:24929400-24932400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:24929400-24932400	Enhancers	Fetal Muscle Leg	muscle
22	chr6:24929400-24932400	Enhancers	Fetal Stomach	stomach
23	chr6:24929400-24932600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
24	chr6:24929400-24933000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:24929400-24934200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
26	chr6:24929600-24932200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
27	chr6:24929600-24932200	Enhancers	Psoas Muscle	Psoas
28	chr6:24929600-24932400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:24929600-24932800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:24929600-24936000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:24929800-24932400	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
32	chr6:24929800-24932800	Enhancers	NHDF-Ad	bronchial
33	chr6:24930000-24932200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:24930200-24932800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:24930200-24933000	Enhancers	Colon Smooth Muscle	Colon
36	chr6:24930200-24933200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:24930200-24934400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:24930200-24935600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr6:24930400-24932600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:24930400-24932600	Enhancers	NH-A	brain
41	chr6:24930400-24933000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:24930400-24934600	Enhancers	Hela-S3	cervix
43	chr6:24930600-24932200	Enhancers	Right Ventricle	heart
44	chr6:24930600-24932400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:24930600-24932800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:24930600-24932800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:24930600-24932800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr6:24930600-24933000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr6:24930600-24933800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr6:24930600-24935600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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