Variant report

Variant	rs8107222
Chromosome Location	chr19:18595089-18595090
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18594286..18597312-chr19:18598721..18600664,3	K562	blood:
2	chr19:18594131..18599260-chr19:18628635..18634995,10	K562	blood:
3	chr19:18588633..18591403-chr19:18594095..18597353,4	MCF-7	breast:
4	chr19:18594279..18596420-chr19:18597513..18599845,2	MCF-7	breast:
5	chr19:18593399..18595831-chr19:18710963..18713438,2	K562	blood:
6	chr19:18594916..18600646-chr19:18631140..18634129,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs187957	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2303693	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303694	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314670	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3746176	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246328	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7251067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8101992	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8102195	0.87[ASN][1000 genomes]
rs8103520	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
2	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
6	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	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
8	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18575400-18607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:18581400-18595600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:18581600-18597000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:18585200-18597000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr19:18585800-18599800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:18588200-18598200	Enhancers	Spleen	Spleen
7	chr19:18590000-18596800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr19:18590800-18596000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:18591000-18605400	Weak transcription	Thymus	Thymus
10	chr19:18591200-18596000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr19:18591400-18595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:18591400-18595800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:18591400-18595800	Weak transcription	Ovary	ovary
14	chr19:18591400-18596200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:18591400-18596800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:18591400-18596800	Weak transcription	Brain Substantia Nigra	brain
17	chr19:18591400-18596800	Weak transcription	Fetal Heart	heart
18	chr19:18591400-18596800	Weak transcription	A549	lung
19	chr19:18591400-18597000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr19:18591400-18597400	Weak transcription	Aorta	Aorta
21	chr19:18591400-18605200	Weak transcription	Primary T cells from cord blood	blood
22	chr19:18591400-18605400	Weak transcription	GM12878-XiMat	blood
23	chr19:18591600-18596000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:18591600-18597000	Weak transcription	Brain Angular Gyrus	brain
25	chr19:18591600-18597000	Weak transcription	Fetal Lung	lung
26	chr19:18591800-18595200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr19:18591800-18597000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr19:18592000-18595200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr19:18592000-18595600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:18592000-18595600	Weak transcription	Colonic Mucosa	Colon
31	chr19:18592000-18595800	Weak transcription	Esophagus	oesophagus
32	chr19:18592000-18595800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr19:18592000-18596200	Weak transcription	Stomach Mucosa	stomach
34	chr19:18592000-18599000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:18592200-18595200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:18592200-18596600	Weak transcription	Fetal Intestine Large	intestine
37	chr19:18592200-18596800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:18592200-18597000	Weak transcription	HUVEC	blood vessel
39	chr19:18592400-18595400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr19:18592400-18596800	Weak transcription	NHLF	lung
41	chr19:18592600-18595200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:18592600-18595600	Weak transcription	Small Intestine	intestine
43	chr19:18592600-18596800	Weak transcription	Brain Hippocampus Middle	brain
44	chr19:18592600-18597600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:18592800-18595400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:18592800-18596800	Weak transcription	Fetal Stomach	stomach
47	chr19:18593000-18596000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:18593000-18596800	Weak transcription	NH-A	brain
49	chr19:18593000-18597000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:18593000-18597000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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