Variant report

Variant	rs10102600
Chromosome Location	chr8:11285384-11285385
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	chr8:11204194..11206548-chr8:11284736..11287319,2	K562	blood:

Variant related genes	Relation type
ENSG00000255020	Chromatin interaction
ENSG00000154316	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10481455	0.84[JPT][hapmap];0.90[MEX][hapmap];0.92[AMR][1000 genomes]
rs1057750	0.95[JPT][hapmap]
rs11250138	0.80[JPT][hapmap]
rs11779875	0.86[JPT][hapmap]
rs11782375	0.86[JPT][hapmap]
rs12114115	0.84[ASW][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs12674532	0.84[JPT][hapmap]
rs13259219	0.85[JPT][hapmap]
rs2280803	0.84[JPT][hapmap]
rs2409766	0.81[AMR][1000 genomes]
rs2898279	0.84[JPT][hapmap]
rs2898280	0.86[JPT][hapmap]
rs4240675	0.84[JPT][hapmap];0.87[AMR][1000 genomes]
rs4841529	0.84[JPT][hapmap]
rs4841540	0.82[ASW][hapmap]
rs6982606	0.80[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6984212	0.82[ASW][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7001675	0.90[JPT][hapmap]
rs7003814	0.84[JPT][hapmap];0.92[AMR][1000 genomes]
rs7007712	0.85[JPT][hapmap]
rs7018402	0.90[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes]
rs7846252	0.90[MEX][hapmap]
rs9644687	0.80[JPT][hapmap]
rs9792375	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv1792231	chr8:11278307-11289053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10102600	CTSB	cis	cerebellum	SCAN
rs10102600	TDH	cis	cerebellum	SCAN
rs10102600	DEFB134	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11269400-11287400	Weak transcription	Right Atrium	heart
2	chr8:11271600-11291000	Weak transcription	Pancreas	Pancrea
3	chr8:11273000-11286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:11273000-11287000	Weak transcription	NHEK	skin
5	chr8:11276600-11291200	Weak transcription	Gastric	stomach
6	chr8:11277600-11287000	Enhancers	Fetal Thymus	thymus
7	chr8:11279400-11288000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr8:11279800-11289600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:11280600-11286000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
11	chr8:11280800-11297600	Weak transcription	Spleen	Spleen
12	chr8:11281600-11285800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:11281600-11286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:11282200-11285400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:11282200-11286600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:11282200-11286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:11282200-11287600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:11282600-11286600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:11282800-11285400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:11283800-11286000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr8:11283800-11286400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:11283800-11287200	Enhancers	Thymus	Thymus
23	chr8:11283800-11288000	Enhancers	Brain Substantia Nigra	brain
24	chr8:11284000-11286400	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:11284000-11287400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:11284200-11288400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:11284400-11285400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr8:11284400-11286000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:11284400-11287400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:11284600-11286000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:11284600-11286400	Enhancers	Brain Anterior Caudate	brain
32	chr8:11284600-11287600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:11284600-11288000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:11284800-11286200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:11284800-11287600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr8:11284800-11287800	Enhancers	Brain Angular Gyrus	brain
37	chr8:11284800-11288200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:11284800-11288200	Enhancers	Brain Hippocampus Middle	brain
39	chr8:11284800-11288600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:11285000-11287200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr8:11285200-11286200	Weak transcription	Fetal Brain Male	brain
42	chr8:11285200-11286200	Weak transcription	Fetal Brain Female	brain
43	chr8:11285200-11286600	Enhancers	HUES48 Cell Line	embryonic stem cell

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