Variant report

Variant	rs548895364
Chromosome Location	chr5:128461756-128461757
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:128461144..128463118-chr5:128795505..128797060,2	MCF-7	breast:
2	chr5:128433582..128436325-chr5:128460643..128463570,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249421	Chromatin interaction
ENSG00000145808	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882849	chr5:128446692-128501738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv462444	chr5:128458834-128531972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv599702	chr5:128458834-128531972	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv2763870	chr5:128460713-128738285	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv882850	chr5:128460963-128529794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
3	chr5:128444000-128462000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:128444000-128462400	Weak transcription	Gastric	stomach
5	chr5:128453200-128462600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:128454000-128462200	Weak transcription	Fetal Stomach	stomach
7	chr5:128454200-128462000	Weak transcription	K562	blood
8	chr5:128454200-128462400	Weak transcription	Fetal Heart	heart
9	chr5:128461200-128462400	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:128461200-128462600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:128461400-128461800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:128461400-128462000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:128461400-128462200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:128461400-128462200	Flanking Active TSS	Liver	Liver
15	chr5:128461400-128462400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:128461400-128462400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr5:128461400-128462600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr5:128461400-128462600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:128461400-128462800	Enhancers	Stomach Mucosa	stomach
20	chr5:128461600-128461800	Enhancers	Primary T cells from cord blood	blood
21	chr5:128461600-128461800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:128461600-128461800	Enhancers	Dnd41	blood
23	chr5:128461600-128462000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr5:128461600-128462000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr5:128461600-128462000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:128461600-128462000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr5:128461600-128462200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:128461600-128462200	Enhancers	Fetal Intestine Small	intestine
29	chr5:128461600-128462200	Flanking Active TSS	GM12878-XiMat	blood
30	chr5:128461600-128462400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:128461600-128462400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:128461600-128462600	Enhancers	Adipose Nuclei	Adipose
33	chr5:128461600-128462800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr5:128461600-128462800	Enhancers	Fetal Intestine Large	intestine
35	chr5:128461600-128462800	Enhancers	Sigmoid Colon	Sigmoid Colon

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