Variant report

Variant	rs554370963
Chromosome Location	chr8:19523981-19523982
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	chr8:19147589..19149540-chr8:19523160..19524664,2	MCF-7	breast:
2	chr8:19523263..19525014-chr8:19530361..19532867,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2481095	chr8:19523898-19525397	Weak transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19516600-19525000	Enhancers	Placenta	Placenta
2	chr8:19518200-19524000	Enhancers	NHEK	skin
3	chr8:19518200-19524200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:19518600-19524000	Enhancers	HMEC	breast
5	chr8:19519800-19524200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:19520000-19524200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:19520200-19529000	Enhancers	Primary B cells from cord blood	blood
8	chr8:19520400-19527600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:19520400-19528600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:19520400-19530400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:19520400-19539000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:19520400-19539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:19520400-19539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:19520600-19525000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:19520600-19527200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:19520600-19528400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:19520600-19528600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:19520600-19528600	Weak transcription	Lung	lung
19	chr8:19520600-19538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:19520600-19538800	Weak transcription	Esophagus	oesophagus
21	chr8:19520600-19538800	Weak transcription	Gastric	stomach
22	chr8:19521400-19524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:19521600-19524200	Enhancers	Osteobl	bone
24	chr8:19521800-19524200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:19521800-19527200	Weak transcription	Aorta	Aorta
26	chr8:19521800-19527600	Weak transcription	Right Ventricle	heart
27	chr8:19522200-19524000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:19522200-19524200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:19522200-19524200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:19522200-19524200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr8:19522400-19524200	Enhancers	Ovary	ovary
32	chr8:19522400-19525200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr8:19522600-19524000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr8:19523000-19524200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:19523000-19525400	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:19523000-19525400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:19523000-19526400	Enhancers	Hela-S3	cervix
38	chr8:19523200-19524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:19523200-19524000	Weak transcription	Left Ventricle	heart
40	chr8:19523200-19524200	Flanking Active TSS	A549	lung
41	chr8:19523200-19528200	Weak transcription	Right Atrium	heart
42	chr8:19523200-19533200	Weak transcription	Pancreas	Pancrea
43	chr8:19523200-19534600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:19523400-19524600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:19523400-19524800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:19523400-19529600	Weak transcription	Fetal Brain Female	brain
47	chr8:19523600-19524200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:19523600-19524200	Enhancers	Fetal Brain Male	brain
49	chr8:19523600-19538600	Weak transcription	Brain Anterior Caudate	brain
50	chr8:19523800-19524000	Enhancers	Sigmoid Colon	Sigmoid Colon

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