Variant report

Variant	rs11994026
Chromosome Location	chr8:19323385-19323386
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4072132	1.00[ASN][1000 genomes]
rs4922033	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4922040	0.81[EUR][1000 genomes]
rs6983175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7002047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819875	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv1022344	chr8:19270143-19324083	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19310600-19359600	Weak transcription	Ovary	ovary
2	chr8:19313400-19327200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:19316200-19339200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr8:19316400-19323800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:19317600-19325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:19318200-19323400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr8:19318200-19325600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:19318600-19325800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:19318800-19323400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:19318800-19326600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:19318800-19332600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:19319400-19323400	Strong transcription	Primary B cells from cord blood	blood
13	chr8:19319400-19326600	Weak transcription	Right Ventricle	heart
14	chr8:19319400-19327800	Weak transcription	Right Atrium	heart
15	chr8:19319400-19329000	Weak transcription	Placenta	Placenta
16	chr8:19319600-19325800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:19319600-19325800	Weak transcription	Lung	lung
18	chr8:19319600-19326000	Weak transcription	Gastric	stomach
19	chr8:19319600-19326200	Weak transcription	Left Ventricle	heart
20	chr8:19319600-19327800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:19319600-19362800	Weak transcription	Spleen	Spleen
22	chr8:19319800-19332200	Weak transcription	Pancreas	Pancrea
23	chr8:19320200-19327800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:19320200-19329200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:19321800-19329000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:19322000-19325800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:19322400-19325200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:19322400-19329000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr8:19322800-19323400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:19322800-19323800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:19323000-19323800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:19323200-19323600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:19323200-19325600	Weak transcription	Primary T cells from cord blood	blood
34	chr8:19323200-19325600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:19323200-19327400	Weak transcription	A549	lung

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