Variant report

Variant	rs9365600
Chromosome Location	chr6:164129358-164129359
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:164128425..164130009-chr6:164133926..164136192,2	K562	blood:
2	chr6:164128182..164130278-chr6:164132166..164136192,3	K562	blood:
3	chr6:164129205..164131317-chr6:164138569..164140374,2	MCF-7	breast:
4	chr6:164123254..164126506-chr6:164128493..164130449,3	MCF-7	breast:
5	chr6:164127592..164129611-chr6:164130012..164131653,2	K562	blood:

Variant related genes	Relation type
ENSG00000235538	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1076035	0.89[EUR][1000 genomes]
rs10945915	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12196308	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17592898	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34737884	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766165	0.98[ASN][1000 genomes]
rs767380	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283864	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346970	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347776	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9347777	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347779	0.82[CHD][hapmap]
rs9356130	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9356134	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356135	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1019107	chr6:164056423-164144164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
rs9365600	UBE2W	trans	cerebellum	SCAN
rs9365600	PARK2	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164121200-164135200	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:164121800-164135400	Enhancers	Primary B cells from cord blood	blood
3	chr6:164123400-164130600	Weak transcription	Fetal Thymus	thymus
4	chr6:164127200-164134400	Enhancers	Fetal Muscle Leg	muscle
5	chr6:164127200-164135400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr6:164127200-164135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:164127400-164130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:164127600-164130800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:164127600-164132800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:164127800-164129600	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:164127800-164130800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:164127800-164133600	Enhancers	Left Ventricle	heart
13	chr6:164127800-164135600	Enhancers	Fetal Muscle Trunk	muscle
14	chr6:164128000-164129600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:164128000-164130400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:164128000-164132800	Enhancers	Fetal Heart	heart
17	chr6:164128000-164133400	Weak transcription	Esophagus	oesophagus
18	chr6:164128200-164129400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:164128400-164129400	Enhancers	Brain Hippocampus Middle	brain
20	chr6:164128400-164129600	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:164128400-164129800	Flanking Active TSS	GM12878-XiMat	blood
22	chr6:164128400-164132600	Enhancers	Psoas Muscle	Psoas
23	chr6:164128400-164133400	Enhancers	Adipose Nuclei	Adipose
24	chr6:164128400-164134000	Enhancers	Right Ventricle	heart
25	chr6:164128600-164129600	Enhancers	Duodenum Mucosa	Duodenum
26	chr6:164128600-164134400	Enhancers	Lung	lung
27	chr6:164128600-164134400	Enhancers	Right Atrium	heart
28	chr6:164128800-164129800	Enhancers	Pancreas	Pancrea
29	chr6:164128800-164132200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr6:164128800-164133600	Enhancers	Stomach Smooth Muscle	stomach
31	chr6:164129000-164129400	Weak transcription	Primary T cells from cord blood	blood
32	chr6:164129000-164129400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr6:164129000-164129400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr6:164129000-164129400	Weak transcription	K562	blood
35	chr6:164129000-164129600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:164129000-164129800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:164129000-164130000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:164129000-164130000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:164129000-164130200	Weak transcription	Brain Anterior Caudate	brain
40	chr6:164129000-164130400	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:164129000-164130400	Weak transcription	Fetal Stomach	stomach
42	chr6:164129000-164130400	Weak transcription	Spleen	Spleen
43	chr6:164129000-164130600	Weak transcription	Fetal Lung	lung
44	chr6:164129000-164131000	Weak transcription	Brain Germinal Matrix	brain
45	chr6:164129000-164131800	Weak transcription	Ovary	ovary
46	chr6:164129000-164132200	Weak transcription	HSMM	muscle
47	chr6:164129000-164132400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:164129000-164132600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr6:164129000-164132800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:164129000-164132800	Weak transcription	HSMMtube	muscle

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