Variant report

Variant	rs114422927
Chromosome Location	chr8:19373215-19373216
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19371116..19373771-chr8:19377059..19378982,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv3481470	chr8:19372957-19376837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3481471	chr8:19372957-19376837	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19348000-19376600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:19363200-19376600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:19364800-19376400	Weak transcription	Hela-S3	cervix
4	chr8:19367000-19385000	Weak transcription	Ovary	ovary
5	chr8:19369200-19373800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr8:19370800-19374400	Weak transcription	A549	lung
7	chr8:19370800-19376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:19370800-19381200	Weak transcription	Fetal Stomach	stomach
9	chr8:19370800-19385000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:19371200-19380000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:19371400-19374400	Enhancers	Fetal Thymus	thymus
12	chr8:19371400-19374400	Enhancers	Thymus	Thymus
13	chr8:19371800-19378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:19372400-19373400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr8:19372400-19373400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr8:19372400-19373600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:19372400-19373600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr8:19372400-19373600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:19372400-19373600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:19372400-19373600	Enhancers	GM12878-XiMat	blood
21	chr8:19372400-19373800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:19372400-19374000	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:19372600-19373400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:19372600-19373400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr8:19372600-19373400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr8:19372600-19373400	Enhancers	Colonic Mucosa	Colon
27	chr8:19372600-19373600	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr8:19372600-19373600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:19372600-19373600	Enhancers	Placenta	Placenta
30	chr8:19372600-19373600	Enhancers	Right Ventricle	heart
31	chr8:19372600-19374400	Enhancers	Dnd41	blood
32	chr8:19372800-19373400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:19372800-19373400	Enhancers	Brain Hippocampus Middle	brain
34	chr8:19372800-19373400	Enhancers	Spleen	Spleen
35	chr8:19372800-19373600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:19372800-19373600	Enhancers	Fetal Muscle Leg	muscle
37	chr8:19372800-19376200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr8:19373000-19373400	Weak transcription	Gastric	stomach
39	chr8:19373000-19373800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:19373000-19374000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:19373000-19374400	Weak transcription	Right Atrium	heart
42	chr8:19373000-19376200	Weak transcription	Left Ventricle	heart
43	chr8:19373000-19376600	Enhancers	Primary T cells from cord blood	blood
44	chr8:19373000-19376800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:19373000-19380600	Weak transcription	Lung	lung
46	chr8:19373200-19373400	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr8:19373200-19373400	Enhancers	Pancreas	Pancrea
48	chr8:19373200-19373600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:19373200-19374600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr8:19373200-19376200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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