Variant report

Variant	rs550782639
Chromosome Location	chr5:2038652-2038653
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 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:
13	chr5:2038644..2039215-chr5:2151129..2152096,3	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2037800-2039200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:2038200-2038800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:2038200-2038800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr5:2038200-2038800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:2038200-2038800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:2038200-2038800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:2038200-2039000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:2038200-2039000	Active TSS	Primary T cells from cord blood	blood
9	chr5:2038200-2039000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:2038200-2039000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
11	chr5:2038400-2038800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:2038400-2038800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:2038400-2038800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:2038400-2038800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr5:2038400-2038800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:2038400-2038800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:2038400-2038800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:2038400-2038800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:2038400-2038800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:2038400-2038800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:2038400-2038800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:2038400-2038800	Flanking Active TSS	Liver	Liver
23	chr5:2038400-2038800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:2038400-2038800	Active TSS	Brain Substantia Nigra	brain
25	chr5:2038400-2038800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
26	chr5:2038400-2038800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr5:2038400-2038800	Bivalent Enhancer	Fetal Brain Male	brain
28	chr5:2038400-2038800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr5:2038400-2038800	Active TSS	Gastric	stomach
30	chr5:2038400-2038800	Flanking Active TSS	Left Ventricle	heart
31	chr5:2038400-2038800	Flanking Active TSS	Psoas Muscle	Psoas
32	chr5:2038400-2038800	Enhancers	Stomach Mucosa	stomach
33	chr5:2038400-2038800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
34	chr5:2038400-2039000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr5:2038400-2039000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:2038400-2039000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:2038400-2039000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:2038400-2039000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr5:2038400-2039000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:2038400-2039000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr5:2038400-2039000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:2038400-2039000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr5:2038400-2039000	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr5:2038400-2039000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:2038400-2039000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
46	chr5:2038400-2039000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:2038400-2039000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:2038400-2039000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:2038400-2039000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr5:2038400-2039000	Active TSS	Brain Angular Gyrus	brain

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