Variant report

Variant	rs553124174
Chromosome Location	chr5:1645116-1645117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:1559974..1562443-chr5:1642820..1645262,2	K562	blood:
2	chr5:1208740..1209449-chr5:1644991..1645637,2	MCF-7	breast:
3	chr5:1380129..1381053-chr5:1644702..1645623,2	K562	blood:
4	chr5:1167994..1168516-chr5:1644707..1645648,2	MCF-7	breast:
5	chr5:1479406..1480370-chr5:1644706..1645695,7	K562	blood:
6	chr5:1601386..1602232-chr5:1644668..1645654,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250584	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	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv880740	chr5:1468287-1671200	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
3	nsv881554	chr5:1468287-1696932	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
4	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
5	nsv881096	chr5:1503610-1671200	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv880390	chr5:1612612-1653418	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv880788	chr5:1629407-1671200	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv881328	chr5:1637461-1671200	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv596886	chr5:1644651-1655800	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv433369	chr5:1644735-1656054	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:1634600-1645200	Weak transcription	Gastric	stomach
2	chr5:1643600-1645600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
3	chr5:1644000-1645200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
4	chr5:1644200-1645400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:1644200-1645600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
6	chr5:1644200-1645800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr5:1644400-1645200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:1644400-1645200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:1644400-1645200	Bivalent Enhancer	Brain Hippocampus Middle	brain
10	chr5:1644400-1645200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
11	chr5:1644400-1645400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:1644400-1645400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr5:1644400-1645400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr5:1644400-1645600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr5:1644400-1645600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:1644400-1645800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:1644400-1645800	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr5:1644600-1645200	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr5:1644600-1645400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:1644600-1645400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr5:1644600-1645600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:1644600-1645600	Enhancers	Dnd41	blood
23	chr5:1644600-1645800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr5:1645000-1645200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:1645000-1645200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:1645000-1645200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:1645000-1645200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr5:1645000-1645200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
29	chr5:1645000-1645200	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:1645000-1645200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:1645000-1645200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
32	chr5:1645000-1645200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:1645000-1645200	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr5:1645000-1645200	Active TSS	Brain Anterior Caudate	brain
35	chr5:1645000-1645200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr5:1645000-1645200	Bivalent Enhancer	Fetal Brain Male	brain
37	chr5:1645000-1645200	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr5:1645000-1645200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr5:1645000-1645200	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr5:1645000-1645200	Enhancers	Pancreas	Pancrea
41	chr5:1645000-1645200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr5:1645000-1645200	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr5:1645000-1645200	Bivalent/Poised TSS	A549	lung
44	chr5:1645000-1645200	Bivalent Enhancer	HMEC	breast
45	chr5:1645000-1645400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:1645000-1645400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
47	chr5:1645000-1645400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr5:1645000-1645600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr5:1645000-1645600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr5:1645000-1645600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links