Variant report

Variant	rs115581472
Chromosome Location	chr8:19246256-19246257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19244439..19246344-chr8:19276946..19278452,2	MCF-7	breast:
2	chr8:19229576..19232119-chr8:19244175..19246874,2	MCF-7	breast:
3	chr8:19245853..19248424-chr8:19264040..19266305,2	MCF-7	breast:
4	chr8:19245003..19248464-chr8:19252162..19256737,5	MCF-7	breast:
5	chr8:19243844..19246567-chr8:19293989..19296089,2	MCF-7	breast:
6	chr8:19229040..19231185-chr8:19244453..19248477,4	MCF-7	breast:
7	chr8:19245390..19247073-chr8:19271565..19273182,2	MCF-7	breast:

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	nsv1026466	chr8:18433493-19271274	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539520	chr8:18433493-19271274	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	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
5	nsv890610	chr8:18749120-19260599	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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
8	nsv890614	chr8:18838764-19274793	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	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
10	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	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
12	nsv1033229	chr8:19081684-19271274	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	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
14	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
15	nsv890622	chr8:19224772-19275354	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
16	nsv610751	chr8:19226335-19284889	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
17	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
18	nsv522774	chr8:19245719-19247922	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19173600-19254800	Weak transcription	Colonic Mucosa	Colon
2	chr8:19214400-19266200	Weak transcription	Aorta	Aorta
3	chr8:19215400-19247800	Weak transcription	Fetal Kidney	kidney
4	chr8:19227600-19246400	Weak transcription	Fetal Heart	heart
5	chr8:19230000-19248400	Weak transcription	Spleen	Spleen
6	chr8:19230000-19248600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr8:19233400-19266200	Weak transcription	Brain Anterior Caudate	brain
8	chr8:19234000-19248800	Weak transcription	Lung	lung
9	chr8:19234000-19251600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:19238400-19263200	Weak transcription	Right Ventricle	heart
11	chr8:19239800-19251800	Weak transcription	Fetal Lung	lung
12	chr8:19241200-19265800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:19241600-19251800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:19242000-19247600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:19242200-19247200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:19242400-19247600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:19242600-19247200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr8:19243000-19249600	Strong transcription	HepG2	liver
19	chr8:19243800-19246400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:19243800-19249000	Enhancers	Pancreas	Pancrea
21	chr8:19243800-19257400	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:19243800-19263200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:19244000-19246400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr8:19244000-19246400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr8:19244000-19248000	Weak transcription	Small Intestine	intestine
26	chr8:19244000-19248600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:19244000-19248600	Weak transcription	HSMMtube	muscle
28	chr8:19244000-19248800	Weak transcription	Fetal Brain Female	brain
29	chr8:19244000-19250600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:19244000-19256400	Weak transcription	Thymus	Thymus
31	chr8:19244200-19246400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:19244200-19246400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:19244200-19247200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:19244200-19247400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:19244200-19247400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr8:19244200-19247800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:19244200-19247800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:19244200-19248000	Weak transcription	Fetal Brain Male	brain
39	chr8:19244200-19249800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:19244200-19251600	Weak transcription	Esophagus	oesophagus
41	chr8:19244200-19252200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:19244200-19253400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:19244200-19254800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:19244200-19255400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:19244200-19256400	Weak transcription	Brain Germinal Matrix	brain
46	chr8:19244200-19265800	Weak transcription	Brain Angular Gyrus	brain
47	chr8:19244400-19246400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:19244400-19246400	Weak transcription	Stomach Mucosa	stomach
49	chr8:19244400-19247000	Weak transcription	HSMM	muscle
50	chr8:19244400-19249800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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