Variant report

Variant	rs374725432
Chromosome Location	chr5:2038594-2038595
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:2038456..2039644-chr5:2151099..2152060,8	MCF-7	breast:
2	chr5:1975910..1976629-chr5:2038577..2039238,2	MCF-7	breast:
3	chr5:1763462..1764367-chr5:2038422..2039408,4	K562	blood:
4	chr5:2038277..2039385-chr5:2150928..2152028,5	MCF-7	breast:
5	chr5:1763417..1764044-chr5:2038313..2038983,3	MCF-7	breast:
6	chr10:16562709..16563518-chr5:2038579..2039403,2	MCF-7	breast:
7	chr5:1763381..1764606-chr5:2038413..2039439,5	MCF-7	breast:
8	chr5:2038305..2039189-chr5:4511874..4512776,3	MCF-7	breast:
9	chr5:2028233..2030258-chr5:2037202..2038966,2	MCF-7	breast:
10	chr5:1667058..1667975-chr5:2038421..2039188,3	K562	blood:
11	chr5:1772046..1773026-chr5:2038306..2039405,3	MCF-7	breast:
12	chr5:1883446..1883946-chr5:2038442..2039397,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231291	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	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
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv596900	chr5:2020274-2066165	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3420746	chr5:2037777-2040325	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3323423	chr5:2038102-2040300	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1028582	chr5:2038130-2063667	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1032941	chr5:2038130-2072872	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2037400-2038600	Weak transcription	Esophagus	oesophagus
2	chr5:2037800-2039200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:2038200-2038800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:2038200-2038800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr5:2038200-2038800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:2038200-2038800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:2038200-2038800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:2038200-2039000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:2038200-2039000	Active TSS	Primary T cells from cord blood	blood
10	chr5:2038200-2039000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
11	chr5:2038200-2039000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
12	chr5:2038400-2038600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
14	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
15	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
18	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr5:2038400-2038600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:2038400-2038600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:2038400-2038600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:2038400-2038600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:2038400-2038600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr5:2038400-2038600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr5:2038400-2038600	Active TSS	Ovary	ovary
27	chr5:2038400-2038600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr5:2038400-2038600	Bivalent/Poised TSS	Thymus	Thymus
29	chr5:2038400-2038600	Flanking Active TSS	NHEK	skin
30	chr5:2038400-2038800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:2038400-2038800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:2038400-2038800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:2038400-2038800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr5:2038400-2038800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:2038400-2038800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:2038400-2038800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:2038400-2038800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:2038400-2038800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:2038400-2038800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:2038400-2038800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:2038400-2038800	Flanking Active TSS	Liver	Liver
42	chr5:2038400-2038800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:2038400-2038800	Active TSS	Brain Substantia Nigra	brain
44	chr5:2038400-2038800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
45	chr5:2038400-2038800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr5:2038400-2038800	Bivalent Enhancer	Fetal Brain Male	brain
47	chr5:2038400-2038800	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr5:2038400-2038800	Active TSS	Gastric	stomach
49	chr5:2038400-2038800	Flanking Active TSS	Left Ventricle	heart
50	chr5:2038400-2038800	Flanking Active TSS	Psoas Muscle	Psoas

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