Variant report

Variant	rs542245548
Chromosome Location	chr8:19613803-19613804
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	chr8:19497421..19499586-chr8:19613571..19616001,2	MCF-7	breast:
2	chr8:19169020..19171370-chr8:19612921..19614479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104611	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19604600-19614000	Weak transcription	Aorta	Aorta
2	chr8:19604800-19614000	Weak transcription	Spleen	Spleen
3	chr8:19611800-19614000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:19612000-19614000	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr8:19612600-19614000	Bivalent/Poised TSS	Fetal Brain Male	brain
6	chr8:19612600-19615200	Active TSS	Brain Anterior Caudate	brain
7	chr8:19612600-19615600	Active TSS	A549	lung
8	chr8:19613000-19614000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:19613000-19614200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr8:19613000-19614400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr8:19613000-19616000	Active TSS	Brain Hippocampus Middle	brain
12	chr8:19613200-19614000	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr8:19613200-19614000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr8:19613200-19614000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr8:19613200-19614000	Flanking Active TSS	Hela-S3	cervix
16	chr8:19613200-19614200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr8:19613200-19614200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
18	chr8:19613200-19614200	Active TSS	Psoas Muscle	Psoas
19	chr8:19613200-19614400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr8:19613200-19614400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
21	chr8:19613200-19615200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:19613200-19615200	Active TSS	Placenta	Placenta
23	chr8:19613200-19615800	Active TSS	Right Atrium	heart
24	chr8:19613200-19616400	Active TSS	Brain Substantia Nigra	brain
25	chr8:19613400-19614000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr8:19613400-19614000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:19613400-19614000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:19613400-19614000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr8:19613400-19614400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
30	chr8:19613400-19614400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr8:19613400-19614600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr8:19613400-19615200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
33	chr8:19613400-19615400	Active TSS	Gastric	stomach
34	chr8:19613400-19615600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr8:19613400-19615600	Active TSS	Left Ventricle	heart
36	chr8:19613400-19615600	Active TSS	Right Ventricle	heart
37	chr8:19613400-19615800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:19613400-19615800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
39	chr8:19613600-19614000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:19613600-19614000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:19613600-19614000	Active TSS	Primary T cells fromperipheralblood	blood
42	chr8:19613600-19614000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
43	chr8:19613600-19614000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
44	chr8:19613600-19614200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
45	chr8:19613600-19614400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr8:19613600-19614600	Bivalent/Poised TSS	Thymus	Thymus
47	chr8:19613600-19615000	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr8:19613600-19615000	Active TSS	Rectal Smooth Muscle	rectum
49	chr8:19613600-19615000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
50	chr8:19613600-19615200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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