Variant report

Variant	rs62493850
Chromosome Location	chr8:19243067-19243068
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19242205..19244006-chr8:19278018..19280967,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1915422	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2280443	0.83[ASN][1000 genomes]
rs60077049	0.91[ASN][1000 genomes]
rs61022263	0.92[ASN][1000 genomes]
rs62493848	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62493851	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7357583	0.83[ASN][1000 genomes]
rs7464348	0.87[ASN][1000 genomes]
rs7814466	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv890622	chr8:19224772-19275354	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
16	nsv610751	chr8:19226335-19284889	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
17	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
2	chr8:19214400-19266200	Weak transcription	Aorta	Aorta
3	chr8:19215400-19245800	Weak transcription	Left Ventricle	heart
4	chr8:19215400-19247800	Weak transcription	Fetal Kidney	kidney
5	chr8:19216600-19243800	Weak transcription	Pancreas	Pancrea
6	chr8:19221600-19243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:19227600-19246400	Weak transcription	Fetal Heart	heart
8	chr8:19230000-19248400	Weak transcription	Spleen	Spleen
9	chr8:19230000-19248600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:19230200-19243200	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:19231600-19243400	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:19232400-19244600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:19232600-19243600	Weak transcription	Placenta	Placenta
14	chr8:19233400-19266200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:19233800-19243800	Weak transcription	Esophagus	oesophagus
16	chr8:19234000-19243200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:19234000-19243600	Weak transcription	Fetal Intestine Large	intestine
18	chr8:19234000-19245000	Weak transcription	Gastric	stomach
19	chr8:19234000-19248800	Weak transcription	Lung	lung
20	chr8:19234000-19251600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:19236400-19243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:19237600-19243200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:19238400-19263200	Weak transcription	Right Ventricle	heart
24	chr8:19239400-19243200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:19239800-19251800	Weak transcription	Fetal Lung	lung
26	chr8:19240600-19243200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:19240600-19245000	Weak transcription	Ovary	ovary
28	chr8:19240800-19243200	Weak transcription	Primary T cells from cord blood	blood
29	chr8:19241200-19265800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:19241600-19244200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:19241600-19244200	Genic enhancers	NHDF-Ad	bronchial
32	chr8:19241600-19244400	Genic enhancers	Hela-S3	cervix
33	chr8:19241600-19251800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:19241800-19243800	Strong transcription	Adipose Nuclei	Adipose
35	chr8:19242000-19243200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:19242000-19244200	Enhancers	NHLF	lung
37	chr8:19242000-19247600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:19242200-19244200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:19242200-19244200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:19242200-19245000	Weak transcription	Primary B cells from cord blood	blood
41	chr8:19242200-19247200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:19242400-19247600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:19242600-19243600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:19242600-19244000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:19242600-19244400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:19242600-19244400	Enhancers	NHEK	skin
47	chr8:19242600-19245000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:19242600-19245600	Enhancers	HMEC	breast
49	chr8:19242600-19247200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr8:19242800-19244200	Enhancers	Primary monocytes fromperipheralblood	blood

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