Variant report

Variant	rs117994996
Chromosome Location	chr8:19614556-19614557
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19497421..19499586-chr8:19613571..19616001,2	MCF-7	breast:
2	chr8:19534323..19537317-chr8:19613839..19616648,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253270	Chromatin interaction
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv3343914	chr8:19613297-19615845	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3443741	chr8:19613697-19616545	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3417669	chr8:19613772-19616120	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19612600-19615200	Active TSS	Brain Anterior Caudate	brain
2	chr8:19612600-19615600	Active TSS	A549	lung
3	chr8:19613000-19616000	Active TSS	Brain Hippocampus Middle	brain
4	chr8:19613200-19615200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:19613200-19615200	Active TSS	Placenta	Placenta
6	chr8:19613200-19615800	Active TSS	Right Atrium	heart
7	chr8:19613200-19616400	Active TSS	Brain Substantia Nigra	brain
8	chr8:19613400-19614600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr8:19613400-19615200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
10	chr8:19613400-19615400	Active TSS	Gastric	stomach
11	chr8:19613400-19615600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr8:19613400-19615600	Active TSS	Left Ventricle	heart
13	chr8:19613400-19615600	Active TSS	Right Ventricle	heart
14	chr8:19613400-19615800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:19613400-19615800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
16	chr8:19613600-19614600	Bivalent/Poised TSS	Thymus	Thymus
17	chr8:19613600-19615000	Bivalent/Poised TSS	Fetal Stomach	stomach
18	chr8:19613600-19615000	Active TSS	Rectal Smooth Muscle	rectum
19	chr8:19613600-19615000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
20	chr8:19613600-19615200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:19613600-19615400	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr8:19613600-19615800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:19613600-19615800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr8:19613600-19615800	Active TSS	Osteobl	bone
25	chr8:19613800-19614600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:19613800-19614600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:19613800-19615000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:19613800-19615000	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:19613800-19615000	Active TSS	Ovary	ovary
30	chr8:19613800-19615200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr8:19613800-19615200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:19613800-19615200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr8:19613800-19615200	Active TSS	Placenta Amnion	Placenta Amnion
34	chr8:19613800-19615400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:19613800-19615600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr8:19613800-19615600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:19613800-19615600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr8:19613800-19615600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
39	chr8:19613800-19615800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr8:19613800-19615800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:19613800-19615800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:19613800-19615800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr8:19614000-19614600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:19614000-19614600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:19614000-19614600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
46	chr8:19614000-19614600	Flanking Bivalent TSS/Enh	HMEC	breast
47	chr8:19614000-19615000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:19614000-19615000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:19614000-19615000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:19614000-19615000	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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