Variant report

Variant	rs8100811
Chromosome Location	chr19:41706300-41706301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:41706060-41706343	A549	lung:	n/a	chr19:41706182-41706193
2	CEBPB	chr19:41705983-41706333	ECC-1	luminal epithelium:	n/a	chr19:41706182-41706193
3	CEBPB	chr19:41706006-41706361	A549	lung:	n/a	chr19:41706182-41706193
4	CEBPB	chr19:41706030-41706310	K562	blood:	n/a	chr19:41706182-41706193
5	CEBPB	chr19:41706088-41706357	HepG2	liver:	n/a	chr19:41706182-41706193
6	CEBPB	chr19:41706011-41706368	IMR90	lung:	n/a	chr19:41706182-41706193
7	CEBPB	chr19:41706005-41706399	Hela-S3	cervix:	n/a	chr19:41706182-41706193
8	FOS	chr19:41706055-41706326	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr19:41705978-41706337	ECC-1	luminal epithelium:	n/a	chr19:41706182-41706193

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41703762..41708765-chr19:41768363..41772371,6	MCF-7	breast:

Variant related genes	Relation type
CYP2S1	TF binding region
ENSG00000105323	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10403675	0.82[AMR][1000 genomes]
rs1628289	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168109	0.82[EUR][1000 genomes]
rs338580	0.82[AMR][1000 genomes]
rs338581	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs338585	0.91[ASN][1000 genomes]
rs338586	0.91[ASN][1000 genomes]
rs338587	0.91[ASN][1000 genomes]
rs338589	0.91[ASN][1000 genomes]
rs338593	0.83[ASN][1000 genomes]
rs338594	0.83[ASN][1000 genomes]
rs7254036	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911767	chr19:41649516-41716271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv911768	chr19:41680424-41748753	Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41699600-41724400	Weak transcription	Right Atrium	heart
2	chr19:41700000-41722200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:41700000-41724400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:41700200-41724200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:41700600-41707000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:41700600-41714600	Weak transcription	Spleen	Spleen
7	chr19:41700800-41711400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:41701200-41713800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:41701600-41713800	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr19:41701600-41714600	Strong transcription	Fetal Intestine Small	intestine
11	chr19:41701800-41711400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:41701800-41711800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:41701800-41714400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:41701800-41714800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:41702000-41713800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:41702000-41722400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:41702200-41714000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:41702600-41706800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:41702600-41711800	Weak transcription	NHEK	skin
20	chr19:41702600-41712000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:41702800-41713600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:41702800-41713800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:41703000-41714600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr19:41703200-41706400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr19:41704800-41707000	Weak transcription	Fetal Intestine Large	intestine
26	chr19:41704800-41711800	Weak transcription	Stomach Mucosa	stomach
27	chr19:41704800-41712200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:41705000-41706400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:41705000-41706400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr19:41705000-41707000	Weak transcription	A549	lung
31	chr19:41705000-41707200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:41705000-41707200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:41705000-41711800	Weak transcription	Lung	lung
34	chr19:41705000-41712000	Weak transcription	Colonic Mucosa	Colon
35	chr19:41705200-41706600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr19:41705200-41706600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr19:41705200-41707000	Weak transcription	Fetal Stomach	stomach
38	chr19:41705200-41709200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:41705200-41711400	Weak transcription	Esophagus	oesophagus
40	chr19:41705200-41712000	Weak transcription	NHLF	lung
41	chr19:41705400-41713200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:41705600-41706600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr19:41705800-41706600	Weak transcription	Gastric	stomach
44	chr19:41706000-41706800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr19:41706200-41706400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:41706200-41706400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:41706200-41706400	Enhancers	GM12878-XiMat	blood
48	chr19:41706200-41706600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:41706200-41709600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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