Variant report

Variant	rs2975434
Chromosome Location	chr8:19408751-19408752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10503652	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12114430	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12114584	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17128565	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17128631	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17128665	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2958554	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2958569	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2958587	0.88[EUR][1000 genomes]
rs2958590	0.87[EUR][1000 genomes]
rs2958593	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2958595	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2975456	0.87[EUR][1000 genomes]
rs2975468	0.88[EUR][1000 genomes]
rs2975494	0.89[EUR][1000 genomes]
rs4418356	0.86[EUR][1000 genomes]
rs4921658	0.85[EUR][1000 genomes]
rs4922052	0.85[EUR][1000 genomes]
rs4922053	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4922055	0.86[EUR][1000 genomes]
rs4922058	0.84[ASN][1000 genomes]
rs62493884	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62493885	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62493886	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62493887	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62493888	0.85[EUR][1000 genomes]
rs62493889	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62493891	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62493892	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62493893	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62493894	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62493895	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62494464	0.83[ASN][1000 genomes]
rs6992386	0.86[EUR][1000 genomes]
rs6992516	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817732	0.87[EUR][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	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
2	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
3	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
4	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
5	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
6	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
7	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	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
9	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1024012	chr8:19377703-19409791	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	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
13	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19396400-19408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:19398400-19410400	Weak transcription	Aorta	Aorta
4	chr8:19398400-19411800	Weak transcription	Primary B cells from cord blood	blood
5	chr8:19398800-19408800	Weak transcription	Left Ventricle	heart
6	chr8:19401400-19434000	Weak transcription	Hela-S3	cervix
7	chr8:19401600-19413000	Weak transcription	Brain Anterior Caudate	brain
8	chr8:19402400-19415000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:19405200-19408800	Weak transcription	Right Atrium	heart
10	chr8:19406400-19409000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:19407200-19409200	Enhancers	Thymus	Thymus
12	chr8:19407400-19410200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:19407600-19409200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:19407600-19409200	Enhancers	Fetal Thymus	thymus
15	chr8:19407800-19410400	Enhancers	Primary T cells from cord blood	blood
16	chr8:19408000-19409200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:19408000-19409200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:19408000-19409200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr8:19408000-19409400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:19408200-19409200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr8:19408200-19409200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:19408200-19409200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr8:19408200-19409800	Weak transcription	A549	lung
24	chr8:19408400-19409000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:19408400-19409000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:19408400-19409200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr8:19408400-19409200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr8:19408400-19409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:19408400-19409200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:19408400-19409200	Enhancers	Brain Substantia Nigra	brain
31	chr8:19408400-19409200	Enhancers	Fetal Lung	lung
32	chr8:19408400-19409400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:19408600-19409000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:19408600-19409200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr8:19408600-19409400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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