Variant report

Variant	rs3808643
Chromosome Location	chr8:19188742-19188743
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	chr8:19126347..19128223-chr8:19186550..19188769,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13264045	0.91[EUR][1000 genomes]
rs17116609	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17128221	0.83[ASN][1000 genomes]
rs2410609	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35085433	0.91[EUR][1000 genomes]
rs3808644	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3824328	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56005620	0.94[EUR][1000 genomes]
rs7829274	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7832867	0.91[EUR][1000 genomes]
rs7845057	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv917232	chr8:18585309-19208665	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer 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	25 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv890616	chr8:18989735-19197809	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	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
15	nsv890621	chr8:19173379-19211220	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19172400-19202400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:19172600-19202800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
4	chr8:19173800-19205400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:19174000-19223600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:19174200-19191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:19174200-19220400	Weak transcription	HSMM	muscle
8	chr8:19174400-19205200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:19177000-19188800	Strong transcription	A549	lung
10	chr8:19177000-19189600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:19177200-19189400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:19177800-19190600	Weak transcription	Adipose Nuclei	Adipose
13	chr8:19178200-19194400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr8:19181800-19204800	Weak transcription	Spleen	Spleen
15	chr8:19182000-19189000	Strong transcription	HepG2	liver
16	chr8:19182000-19190600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:19183800-19189200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:19183800-19202600	Weak transcription	Primary T cells from cord blood	blood
19	chr8:19184000-19189200	Weak transcription	HMEC	breast
20	chr8:19184000-19203600	Weak transcription	Small Intestine	intestine
21	chr8:19184400-19191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:19184400-19196000	Weak transcription	Aorta	Aorta
23	chr8:19184600-19190600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:19184600-19190600	Weak transcription	Placenta	Placenta
25	chr8:19185000-19189600	Strong transcription	Hela-S3	cervix
26	chr8:19185000-19190400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:19185000-19204400	Weak transcription	Fetal Lung	lung
28	chr8:19185400-19188800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:19185400-19190800	Weak transcription	Lung	lung
30	chr8:19185600-19188800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:19186200-19229800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:19186600-19191000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:19187200-19198000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:19187400-19190000	Enhancers	Liver	Liver
35	chr8:19187600-19189000	Enhancers	Pancreas	Pancrea
36	chr8:19187600-19189000	Strong transcription	NHLF	lung
37	chr8:19187600-19189000	Strong transcription	Osteobl	bone
38	chr8:19187600-19189200	Genic enhancers	Esophagus	oesophagus
39	chr8:19187600-19189400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:19187600-19189400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:19187800-19188800	Enhancers	Colon Smooth Muscle	Colon
42	chr8:19187800-19190600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:19188000-19188800	Enhancers	Left Ventricle	heart
44	chr8:19188000-19189000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr8:19188000-19189200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr8:19188000-19189200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr8:19188000-19190800	Weak transcription	Fetal Intestine Large	intestine
48	chr8:19188000-19191000	Weak transcription	Fetal Kidney	kidney
49	chr8:19188200-19189200	Enhancers	Stomach Mucosa	stomach
50	chr8:19188200-19189400	Strong transcription	Fetal Stomach	stomach

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