Variant report

Variant	rs2975462
Chromosome Location	chr8:19434580-19434581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
12	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
13	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
14	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
15	nsv525772	chr8:19434021-19434698	Weak transcription Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases
16	nsv465601	chr8:19434021-19456473	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv610755	chr8:19434021-19456473	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19409000-19437400	Weak transcription	Gastric	stomach
2	chr8:19419600-19435600	Weak transcription	Pancreas	Pancrea
3	chr8:19422200-19435600	Weak transcription	Right Atrium	heart
4	chr8:19422600-19442000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr8:19424600-19435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:19427800-19436200	Weak transcription	Spleen	Spleen
7	chr8:19428400-19436000	Weak transcription	Right Ventricle	heart
8	chr8:19429800-19437000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:19430800-19438400	Weak transcription	Brain Anterior Caudate	brain
10	chr8:19431400-19436400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:19432000-19437400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:19432200-19436000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:19432400-19436200	Weak transcription	Lung	lung
14	chr8:19432600-19434600	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:19432800-19435000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:19433200-19435200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:19433200-19435200	Genic enhancers	A549	lung
18	chr8:19433400-19434600	Enhancers	Primary T cells from cord blood	blood
19	chr8:19433400-19434600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:19433400-19434600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr8:19433400-19434600	Enhancers	Left Ventricle	heart
22	chr8:19433400-19434800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:19433600-19434600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:19433600-19435000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:19433600-19435400	Weak transcription	Ovary	ovary
26	chr8:19433800-19435400	Weak transcription	Thymus	Thymus
27	chr8:19433800-19435800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:19433800-19436200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:19433800-19436400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:19434000-19435600	Enhancers	Hela-S3	cervix
31	chr8:19434000-19437800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:19434000-19457800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:19434200-19437800	Enhancers	Placenta	Placenta
34	chr8:19434400-19434800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr8:19434400-19435800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:19434400-19436400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:19434400-19442400	Weak transcription	Primary B cells from cord blood	blood

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