Variant report

Variant	rs569593835
Chromosome Location	chr17:38110097-38110098
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38101089..38105078-chr17:38105781..38110100,7	K562	blood:
2	chr17:38082186..38086567-chr17:38107763..38110832,6	K562	blood:
3	chr17:38108082..38110998-chr17:38277597..38279860,2	K562	blood:
4	chr17:38107392..38113362-chr17:38135377..38138663,7	K562	blood:
5	chr17:38107835..38110807-chr17:38134929..38137852,3	K562	blood:
6	chr17:38082186..38083715-chr17:38108086..38110832,2	K562	blood:
7	chr13:21714363..21714970-chr17:38109384..38110112,2	NB4	blood:
8	chr17:38090703..38093615-chr17:38109038..38110854,2	K562	blood:
9	chr17:38109945..38111451-chr17:38115405..38117518,2	K562	blood:
10	chr17:38108595..38111573-chr17:38115257..38117518,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000264968	Chromatin interaction
ENSG00000150459	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000172057	Chromatin interaction
ENSG00000188895	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38108400-38110800	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr17:38108600-38110200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:38108600-38110200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr17:38108800-38110400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:38108800-38110400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr17:38109000-38110200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr17:38109000-38110200	Enhancers	Liver	Liver
8	chr17:38109000-38110200	Active TSS	Colonic Mucosa	Colon
9	chr17:38109000-38110200	Enhancers	Stomach Mucosa	stomach
10	chr17:38109000-38110200	Active TSS	Thymus	Thymus
11	chr17:38109000-38110200	Enhancers	Spleen	Spleen
12	chr17:38109000-38110400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr17:38109000-38110400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr17:38109000-38111200	Enhancers	Primary B cells from cord blood	blood
15	chr17:38109400-38110200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:38109600-38110200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:38109600-38110200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:38109600-38110200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:38109600-38110200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr17:38109600-38110200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:38109600-38110200	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr17:38109600-38110200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr17:38109600-38110200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:38109600-38110200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr17:38109600-38110200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr17:38109600-38110200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr17:38109600-38110200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr17:38109600-38110200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr17:38109600-38110200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:38109600-38110200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:38109600-38110200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr17:38109600-38110200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:38109600-38110200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr17:38109600-38110200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:38109600-38110200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr17:38109600-38110200	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr17:38109600-38110200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr17:38109600-38110200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr17:38109600-38110200	Enhancers	Fetal Heart	heart
40	chr17:38109600-38110200	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr17:38109600-38110200	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr17:38109600-38110200	Flanking Active TSS	Fetal Thymus	thymus
43	chr17:38109600-38110200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr17:38109600-38110200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr17:38109600-38110200	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr17:38109600-38110200	Flanking Active TSS	GM12878-XiMat	blood
47	chr17:38109600-38110200	Flanking Active TSS	Hela-S3	cervix
48	chr17:38109600-38110200	Flanking Active TSS	HepG2	liver
49	chr17:38109600-38110200	Flanking Active TSS	HMEC	breast
50	chr17:38109600-38110200	Active TSS	HSMMtube	muscle

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