Variant report

Variant	rs8102046
Chromosome Location	chr19:18795578-18795579
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18630901..18633071-chr19:18792367..18795663,3	K562	blood:
2	chr19:18794491..18797092-chr19:18797337..18802619,5	K562	blood:
3	chr19:18794658..18796349-chr19:18952562..18954246,2	MCF-7	breast:
4	chr19:18704422..18706630-chr19:18794126..18797351,3	K562	blood:
5	chr19:18795506..18797071-chr19:18943433..18946389,2	K562	blood:
6	chr19:18792191..18795996-chr19:18942387..18945269,3	MCF-7	breast:
7	chr19:18704422..18706630-chr19:18794126..18796450,2	K562	blood:

Variant related genes	Relation type
ENSG00000006016	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10221489	0.86[CHB][hapmap]
rs10412053	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10412858	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10419226	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10420228	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10421503	0.94[ASN][1000 genomes]
rs10423674	0.90[CHB][hapmap]
rs10854003	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11085236	0.86[ASN][1000 genomes]
rs11883401	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12976113	0.91[ASN][1000 genomes]
rs1473116	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2214524	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2385178	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2891698	0.88[EUR][1000 genomes]
rs3829671	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4808145	0.85[ASN][1000 genomes]
rs4808147	0.90[ASN][1000 genomes]
rs6510995	0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6510996	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7246437	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7257812	0.97[ASN][1000 genomes]
rs757347	0.96[ASN][1000 genomes]
rs8100824	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs876982	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs886443	0.96[ASN][1000 genomes]
rs889364	0.86[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	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	60 gene(s)	inside rSNPs	diseases
5	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18793800-18795600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:18793800-18795600	Active TSS	Fetal Kidney	kidney
3	chr19:18793800-18795800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr19:18794000-18795600	Active TSS	HSMMtube	muscle
5	chr19:18794800-18795600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:18794800-18795600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr19:18794800-18795600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr19:18794800-18795600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:18794800-18795600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:18794800-18795600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr19:18794800-18795600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:18794800-18795600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:18794800-18795600	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr19:18794800-18795600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr19:18794800-18795600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr19:18794800-18795600	Flanking Active TSS	Lung	lung
17	chr19:18794800-18795600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr19:18794800-18795600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr19:18794800-18795600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr19:18794800-18795600	Flanking Active TSS	GM12878-XiMat	blood
21	chr19:18794800-18795600	Flanking Active TSS	Hela-S3	cervix
22	chr19:18794800-18795600	Flanking Active TSS	HSMM	muscle
23	chr19:18794800-18795800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:18794800-18795800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr19:18794800-18795800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:18794800-18795800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr19:18794800-18795800	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr19:18794800-18795800	Flanking Active TSS	Colonic Mucosa	Colon
29	chr19:18794800-18795800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr19:18794800-18795800	Flanking Active TSS	Dnd41	blood
31	chr19:18794800-18795800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:18794800-18795800	Flanking Active TSS	Osteobl	bone
33	chr19:18794800-18796000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:18795000-18795600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:18795000-18795600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:18795000-18795600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:18795000-18795600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:18795000-18795600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr19:18795000-18795600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr19:18795000-18795600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr19:18795000-18795600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr19:18795000-18795600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr19:18795000-18795600	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr19:18795000-18795600	Flanking Active TSS	Gastric	stomach
45	chr19:18795000-18795600	Flanking Active TSS	Pancreas	Pancrea
46	chr19:18795000-18795600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr19:18795000-18795600	Flanking Active TSS	HMEC	breast
48	chr19:18795000-18795800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:18795000-18795800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:18795000-18795800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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