Variant report

Variant	rs2975470
Chromosome Location	chr8:19378190-19378191
allele	A/T
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	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
13	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

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19367000-19385000	Weak transcription	Ovary	ovary
2	chr8:19370800-19381200	Weak transcription	Fetal Stomach	stomach
3	chr8:19370800-19385000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:19371200-19380000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:19371800-19378400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:19373000-19380600	Weak transcription	Lung	lung
7	chr8:19373400-19381600	Weak transcription	Spleen	Spleen
8	chr8:19373400-19382000	Weak transcription	Pancreas	Pancrea
9	chr8:19373600-19378400	Weak transcription	Placenta	Placenta
10	chr8:19373600-19382000	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:19373600-19382200	Weak transcription	Gastric	stomach
12	chr8:19373800-19380000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:19374000-19379800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:19374000-19382200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:19374400-19380200	Strong transcription	A549	lung
16	chr8:19374400-19385400	Weak transcription	Thymus	Thymus
17	chr8:19374600-19382400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:19375600-19390000	Weak transcription	Right Atrium	heart
19	chr8:19376200-19388000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:19376400-19379000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:19376400-19380600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:19376400-19388400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:19376600-19378200	Weak transcription	Primary T cells from cord blood	blood
24	chr8:19377000-19380600	Strong transcription	Primary B cells from cord blood	blood
25	chr8:19377000-19388400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:19377200-19379200	Weak transcription	Hela-S3	cervix
27	chr8:19377200-19388400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:19377600-19378400	Weak transcription	Right Ventricle	heart
29	chr8:19377600-19379000	Weak transcription	Left Ventricle	heart
30	chr8:19377600-19388200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:19377800-19378800	Enhancers	Fetal Heart	heart

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