Variant report

Variant	rs9379711
Chromosome Location	chr6:25062275-25062276
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	chr6:25060649..25063407-chr6:25066068..25067636,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10946746	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12214056	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555431	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs303034	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs460400	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6916014	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356960	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9358829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9358831	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9379708	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9379712	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9379714	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9393611	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9461094	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	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
4	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv830611	chr6:25039374-25199112	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9379711	CMAH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25046000-25062400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:25055400-25064200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:25057600-25080400	Weak transcription	Thymus	Thymus
4	chr6:25057800-25062800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:25057800-25062800	Weak transcription	Placenta	Placenta
6	chr6:25059600-25062600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:25060400-25063000	Enhancers	Adipose Nuclei	Adipose
8	chr6:25061200-25063200	Enhancers	NHDF-Ad	bronchial
9	chr6:25061200-25065200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:25061400-25062400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:25061400-25062800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:25061400-25062800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:25061400-25062800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:25061400-25062800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:25061400-25063000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:25061400-25063000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:25061400-25063000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:25061400-25063000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:25061400-25063200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:25061400-25063200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:25061400-25063200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:25061400-25063200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:25061400-25063200	Enhancers	Fetal Muscle Leg	muscle
24	chr6:25061400-25063400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:25061400-25063600	Enhancers	Fetal Heart	heart
26	chr6:25061400-25065000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:25061600-25062800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:25061600-25063000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:25061600-25063000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:25061600-25063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:25061600-25063200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr6:25061600-25063200	Enhancers	Ovary	ovary
33	chr6:25061800-25062400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:25061800-25062800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:25061800-25062800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:25061800-25063000	Weak transcription	Left Ventricle	heart
37	chr6:25061800-25063200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:25061800-25063200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:25061800-25066000	Weak transcription	HSMMtube	muscle
40	chr6:25062000-25062600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr6:25062000-25062800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:25062000-25063000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:25062200-25062400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr6:25062200-25063000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:25062200-25063000	Enhancers	Osteobl	bone
46	chr6:25062200-25063800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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