Variant report

Variant	rs9600508
Chromosome Location	chr13:76198885-76198886
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	chr13:76198632..76200226-chr13:77564882..77566565,2	K562	blood:

Variant related genes	Relation type
ENSG00000102805	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10162224	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11617067	0.95[EUR][1000 genomes]
rs2274046	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274047	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274048	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4885329	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885335	0.96[ASN][1000 genomes]
rs8001729	0.90[ASN][1000 genomes]
rs8192757	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8192761	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318359	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318360	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318362	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530449	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530451	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530452	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543963	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9543964	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9543967	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9543983	0.96[EUR][1000 genomes]
rs9543986	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9543991	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543995	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544000	0.94[AMR][1000 genomes]
rs9544001	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544003	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544006	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544007	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573582	0.96[ASN][1000 genomes]
rs9573595	0.96[ASN][1000 genomes]
rs9593092	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9600494	0.94[EUR][1000 genomes]
rs9600498	1.00[ASN][1000 genomes]
rs9600504	0.96[EUR][1000 genomes];1.00[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	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv900577	chr13:76132484-76207565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9600508	UCHL3	cis	Artery Tibial	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
2	chr13:76148200-76203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:76148200-76209600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr13:76149800-76209600	Weak transcription	Lung	lung
5	chr13:76159000-76209600	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:76159400-76201800	Weak transcription	Fetal Lung	lung
7	chr13:76164600-76209400	Weak transcription	Esophagus	oesophagus
8	chr13:76165200-76209200	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:76166800-76202000	Weak transcription	Fetal Brain Female	brain
10	chr13:76170800-76209600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr13:76174600-76201400	Weak transcription	Psoas Muscle	Psoas
12	chr13:76176800-76199400	Weak transcription	Placenta	Placenta
13	chr13:76177600-76209400	Weak transcription	Left Ventricle	heart
14	chr13:76177600-76209600	Weak transcription	Fetal Stomach	stomach
15	chr13:76180000-76209600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr13:76180600-76204000	Weak transcription	GM12878-XiMat	blood
17	chr13:76180800-76204600	Weak transcription	Dnd41	blood
18	chr13:76180800-76209200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr13:76180800-76209200	Weak transcription	Adipose Nuclei	Adipose
20	chr13:76180800-76209600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:76181000-76209400	Weak transcription	Fetal Thymus	thymus
22	chr13:76181000-76209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr13:76181000-76209600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr13:76181200-76209400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr13:76181200-76209600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:76181400-76199600	Weak transcription	Primary B cells from cord blood	blood
27	chr13:76181400-76199600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr13:76181600-76207400	Weak transcription	HMEC	breast
29	chr13:76182800-76209400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:76189600-76209400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr13:76190600-76209600	Weak transcription	Brain Angular Gyrus	brain
32	chr13:76191000-76201200	Weak transcription	Brain Anterior Caudate	brain
33	chr13:76191600-76201400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:76192000-76209600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:76192200-76209400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:76192600-76209600	Weak transcription	Fetal Intestine Small	intestine
37	chr13:76193400-76209400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:76196000-76200000	Weak transcription	Aorta	Aorta
39	chr13:76196200-76207600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:76196800-76203600	Weak transcription	NH-A	brain
41	chr13:76197000-76203600	Weak transcription	HSMMtube	muscle
42	chr13:76197000-76209600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr13:76197600-76199400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:76197600-76201600	Weak transcription	NHLF	lung
45	chr13:76197800-76202200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:76197800-76209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:76198000-76200200	Strong transcription	Primary T cells from cord blood	blood
48	chr13:76198000-76200200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:76198200-76200200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:76198200-76201800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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