Variant report

Variant	rs8102720
Chromosome Location	chr19:40843938-40843939
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40842267..40845117-chr19:40949082..40951268,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268366	Chromatin interaction
ENSG00000167565	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10426842	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11673367	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2368574	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56655668	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60025005	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8104162	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106335	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40820800-40848400	Strong transcription	Dnd41	blood
2	chr19:40821400-40846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:40822000-40851000	Strong transcription	Fetal Stomach	stomach
4	chr19:40822200-40845400	Strong transcription	Fetal Muscle Leg	muscle
5	chr19:40822400-40846200	Strong transcription	Fetal Muscle Trunk	muscle
6	chr19:40823400-40845400	Strong transcription	Thymus	Thymus
7	chr19:40824200-40846400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:40824200-40848600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr19:40824200-40849600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr19:40825800-40845400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr19:40826400-40847400	Weak transcription	Right Atrium	heart
12	chr19:40826600-40853000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:40827600-40845000	Strong transcription	GM12878-XiMat	blood
14	chr19:40832200-40852800	Weak transcription	NHDF-Ad	bronchial
15	chr19:40833800-40846000	Weak transcription	Fetal Heart	heart
16	chr19:40834400-40853400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:40834800-40845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:40834800-40853600	Weak transcription	Small Intestine	intestine
19	chr19:40836000-40845600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr19:40836000-40853600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:40837200-40848400	Weak transcription	Psoas Muscle	Psoas
22	chr19:40837400-40847600	Weak transcription	Colonic Mucosa	Colon
23	chr19:40837400-40853400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:40837400-40853600	Weak transcription	Stomach Mucosa	stomach
25	chr19:40837600-40847400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:40837800-40846600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:40839800-40852800	Weak transcription	Hela-S3	cervix
28	chr19:40839800-40853400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:40840000-40845000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:40840000-40847400	Weak transcription	HMEC	breast
31	chr19:40840000-40852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:40840000-40852800	Weak transcription	HUVEC	blood vessel
33	chr19:40840000-40853400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr19:40840000-40853600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:40840200-40850400	Weak transcription	Osteobl	bone
36	chr19:40840200-40852800	Weak transcription	HepG2	liver
37	chr19:40840400-40850800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr19:40840400-40852800	Weak transcription	Fetal Kidney	kidney
39	chr19:40840400-40853000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:40840400-40853000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr19:40840400-40853000	Weak transcription	Fetal Brain Male	brain
42	chr19:40840400-40853400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:40841200-40844800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr19:40841400-40853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr19:40841600-40847000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:40841800-40845600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:40842000-40844000	Enhancers	Right Ventricle	heart
48	chr19:40842000-40844800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr19:40842000-40847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:40842200-40844600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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