Variant report

Variant	rs9365603
Chromosome Location	chr6:164166908-164166909
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	chr6:164164066..164167011-chr6:164170527..164172238,3	K562	blood:
2	chr6:164161305..164164067-chr6:164164278..164167269,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10945917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465134	0.90[ASN][1000 genomes]
rs1570409	0.81[AMR][1000 genomes]
rs1885957	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885958	1.00[ASN][1000 genomes]
rs2209028	0.95[ASN][1000 genomes]
rs4235948	0.95[ASN][1000 genomes]
rs4709006	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4709007	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4709008	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4709009	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709010	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709012	0.95[ASN][1000 genomes]
rs4709748	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4709754	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6455915	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6455916	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931768	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7741441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742234	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7765631	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7766259	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7766449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295229	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9347782	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9364700	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9458892	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1025171	chr6:164113981-164170027	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9365603	RNASET2	cis	cerebellum	SCAN
rs9365603	FGFR1OP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164160600-164168000	Enhancers	Fetal Muscle Leg	muscle
2	chr6:164163200-164178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:164164600-164167800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:164164800-164167200	Enhancers	Left Ventricle	heart
5	chr6:164164800-164167800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:164165000-164167000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:164165200-164167400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:164165400-164167200	Enhancers	Brain Germinal Matrix	brain
9	chr6:164165400-164167400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:164165400-164167600	Enhancers	Placenta	Placenta
11	chr6:164165600-164167600	Enhancers	Fetal Muscle Trunk	muscle
12	chr6:164165600-164167800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:164165800-164167000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr6:164165800-164167600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:164166000-164167400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:164166200-164167200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:164166200-164167200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:164166200-164167200	Bivalent Enhancer	Fetal Stomach	stomach
19	chr6:164166200-164167400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:164166200-164167400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:164166200-164167400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:164166200-164167400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:164166200-164167400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:164166200-164167400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:164166200-164167400	Enhancers	Psoas Muscle	Psoas
26	chr6:164166200-164167400	Enhancers	NHDF-Ad	bronchial
27	chr6:164166200-164167600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:164166200-164167600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:164166200-164167600	Enhancers	NH-A	brain
30	chr6:164166200-164168600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr6:164166400-164167400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:164166400-164167400	Enhancers	HSMMtube	muscle
33	chr6:164166400-164167800	Enhancers	HSMM	muscle
34	chr6:164166400-164169000	Weak transcription	Right Ventricle	heart
35	chr6:164166400-164170200	Weak transcription	Fetal Brain Male	brain
36	chr6:164166600-164167000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr6:164166600-164167000	Weak transcription	Right Atrium	heart
38	chr6:164166600-164167200	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:164166600-164167400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:164166600-164167400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:164166600-164167400	Enhancers	K562	blood
42	chr6:164166600-164167400	Enhancers	NHLF	lung
43	chr6:164166600-164167600	Enhancers	NHEK	skin
44	chr6:164166600-164167800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:164166600-164167800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:164166800-164167200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:164166800-164167200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr6:164166800-164167400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:164166800-164167400	Enhancers	Fetal Lung	lung
50	chr6:164166800-164173600	Enhancers	Fetal Heart	heart

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