Variant report

Variant	rs7009373
Chromosome Location	chr8:19468818-19468819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs6984441	1.00[AFR][1000 genomes]
rs6990383	0.94[AFR][1000 genomes]
rs7005023	0.84[AFR][1000 genomes]
rs7828554	0.91[AFR][1000 genomes]
rs7835710	0.83[AFR][1000 genomes]
rs7836160	0.91[AFR][1000 genomes]
rs7836203	1.00[AFR][1000 genomes]
rs7836415	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv610756	chr8:19434021-19471977	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19445600-19481400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19456200-19479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:19457600-19472200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:19459400-19472000	Weak transcription	Primary T cells from cord blood	blood
5	chr8:19459400-19472200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:19460200-19474200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:19460200-19474200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:19463400-19473200	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:19464200-19472200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr8:19464200-19476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:19465800-19474000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:19466000-19469000	Weak transcription	Placenta	Placenta
13	chr8:19466000-19469600	Weak transcription	Left Ventricle	heart
14	chr8:19466000-19470000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:19466000-19470000	Weak transcription	Right Atrium	heart
16	chr8:19466000-19472600	Weak transcription	Esophagus	oesophagus
17	chr8:19466200-19469000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr8:19466400-19469000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:19466400-19469600	Weak transcription	Ovary	ovary
20	chr8:19466600-19469000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:19466600-19471800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:19466600-19471800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:19466600-19471800	Enhancers	A549	lung
24	chr8:19466600-19472200	Weak transcription	NHLF	lung
25	chr8:19466600-19477000	Weak transcription	Aorta	Aorta
26	chr8:19466600-19477000	Weak transcription	Fetal Lung	lung
27	chr8:19466800-19471800	Weak transcription	Osteobl	bone
28	chr8:19466800-19472000	Enhancers	Primary B cells from cord blood	blood
29	chr8:19467000-19476600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:19468000-19471600	Weak transcription	GM12878-XiMat	blood
31	chr8:19468000-19483400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:19468400-19470200	Enhancers	Hela-S3	cervix
33	chr8:19468400-19475400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:19468600-19472200	Weak transcription	Right Ventricle	heart

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