Variant report

Variant	rs537395346
Chromosome Location	chr8:125383418-125383419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124778955..124781096-chr8:125382427..125384445,2	MCF-7	breast:
2	chr8:125380396..125382052-chr8:125382659..125384185,2	K562	blood:
3	chr8:125283455..125287567-chr8:125381773..125385340,3	MCF-7	breast:
4	chr8:125373697..125375415-chr8:125381525..125384345,2	MCF-7	breast:
5	chr8:125283009..125285432-chr8:125382555..125384066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253227	Chromatin interaction
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription 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	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3437541	chr8:125382796-125386144	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	esv3398602	chr8:125383071-125386069	Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125379200-125383600	Weak transcription	Lung	lung
2	chr8:125379600-125383600	Weak transcription	Gastric	stomach
3	chr8:125380600-125383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:125381000-125383600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:125381000-125383600	Weak transcription	Spleen	Spleen
6	chr8:125381000-125383800	Active TSS	Fetal Heart	heart
7	chr8:125381000-125385800	Active TSS	Right Ventricle	heart
8	chr8:125381600-125383600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr8:125381600-125383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:125381600-125385600	Active TSS	Fetal Brain Female	brain
11	chr8:125381800-125383600	Active TSS	Right Atrium	heart
12	chr8:125381800-125383600	Flanking Active TSS	HUVEC	blood vessel
13	chr8:125382000-125383600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr8:125382000-125383800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:125382000-125383800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr8:125382000-125383800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr8:125382000-125385600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:125382000-125385600	Active TSS	Psoas Muscle	Psoas
19	chr8:125382200-125383600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:125382200-125385200	Active TSS	Primary T cells fromperipheralblood	blood
21	chr8:125382200-125385400	Active TSS	Duodenum Mucosa	Duodenum
22	chr8:125382200-125385400	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr8:125382200-125385400	Active TSS	GM12878-XiMat	blood
24	chr8:125382200-125385600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:125382200-125385600	Active TSS	A549	lung
26	chr8:125382200-125385800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:125382400-125383600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr8:125382400-125383800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr8:125382400-125383800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr8:125382400-125385200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:125382400-125385200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:125382600-125383600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:125382600-125383600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr8:125382600-125383600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr8:125382600-125383600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:125382600-125383600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr8:125382600-125383600	Flanking Active TSS	Hela-S3	cervix
38	chr8:125382600-125383800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr8:125382600-125383800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:125382600-125383800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr8:125382600-125383800	Flanking Active TSS	Fetal Lung	lung
42	chr8:125382600-125383800	Flanking Active TSS	Osteobl	bone
43	chr8:125382600-125384000	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr8:125382600-125385400	Active TSS	HSMMtube	muscle
45	chr8:125382600-125385800	Active TSS	Brain Hippocampus Middle	brain
46	chr8:125382600-125385800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr8:125382600-125385800	Active TSS	Stomach Smooth Muscle	stomach
48	chr8:125382800-125383600	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr8:125382800-125383600	Flanking Active TSS	NHEK	skin
50	chr8:125382800-125383800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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