Variant report

Variant	rs545549589
Chromosome Location	chr17:38108840-38108841
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37978424..37980112-chr17:38107868..38109558,2	K562	blood:
2	chr17:38107709..38109342-chr17:38252827..38255550,2	K562	blood:
3	chr17:38101089..38105078-chr17:38105781..38110100,7	K562	blood:
4	chr17:38102879..38104734-chr17:38106799..38109127,2	MCF-7	breast:
5	chr17:38107864..38109571-chr17:38137036..38138618,2	MCF-7	breast:
6	chr17:38091500..38094423-chr17:38107517..38109034,2	MCF-7	breast:
7	chr17:38079284..38081708-chr17:38107683..38109275,2	MCF-7	breast:
8	chr17:38082186..38086567-chr17:38107763..38110832,6	K562	blood:
9	chr17:38108082..38110998-chr17:38277597..38279860,2	K562	blood:
10	chr17:38107392..38113362-chr17:38135377..38138663,7	K562	blood:
11	chr17:38097357..38100615-chr17:38107229..38110087,5	K562	blood:
12	chr17:38107835..38110807-chr17:38134929..38137852,3	K562	blood:
13	chr17:38082601..38085339-chr17:38107879..38109914,2	MCF-7	breast:
14	chr17:38082186..38083715-chr17:38108086..38110832,2	K562	blood:
15	chr17:38107027..38109287-chr17:38138129..38139921,2	K562	blood:
16	chr17:38108595..38111573-chr17:38115257..38117518,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108344	Chromatin interaction
ENSG00000264968	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000204913	Chromatin interaction
ENSG00000172057	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3442992	chr17:38107951-38110799	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3410693	chr17:38108326-38110574	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3420775	chr17:38108776-38110124	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38108200-38109000	Flanking Bivalent TSS/Enh	HepG2	liver
2	chr17:38108400-38109000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
3	chr17:38108400-38109000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:38108400-38109000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:38108400-38109000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr17:38108400-38109000	Flanking Active TSS	Colonic Mucosa	Colon
7	chr17:38108400-38109000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr17:38108400-38109000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr17:38108400-38109000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr17:38108400-38109000	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr17:38108400-38109000	Flanking Active TSS	Spleen	Spleen
12	chr17:38108400-38109200	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr17:38108400-38109600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:38108400-38109600	Enhancers	Esophagus	oesophagus
15	chr17:38108400-38109800	Active TSS	Brain Cingulate Gyrus	brain
16	chr17:38108400-38109800	Active TSS	Brain Substantia Nigra	brain
17	chr17:38108400-38110800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr17:38108600-38109000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr17:38108600-38109000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr17:38108600-38109000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr17:38108600-38109000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:38108600-38109000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:38108600-38109000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:38108600-38109000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:38108600-38109000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:38108600-38109000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:38108600-38109000	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr17:38108600-38109000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr17:38108600-38109000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr17:38108600-38109000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr17:38108600-38109000	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr17:38108600-38109000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr17:38108600-38109000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr17:38108600-38109000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:38108600-38109000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr17:38108600-38109000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr17:38108600-38109000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr17:38108600-38109000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:38108600-38109000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr17:38108600-38109000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:38108600-38109000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:38108600-38109000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr17:38108600-38109000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr17:38108600-38109000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:38108600-38109000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:38108600-38109000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:38108600-38109000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr17:38108600-38109000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:38108600-38109000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:38108600-38109000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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