Variant report

Variant	rs60004948
Chromosome Location	chr15:57855719-57855720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57850033..57853675-chr15:57854841..57859589,5	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16977600	0.88[AFR][1000 genomes]
rs56091272	0.85[AFR][1000 genomes]
rs7167546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7174359	0.88[AFR][1000 genomes]
rs74018224	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57844600-57859000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:57844800-57857400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr15:57845200-57857600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:57846800-57861400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:57847600-57859200	Weak transcription	Right Ventricle	heart
6	chr15:57847800-57859000	Weak transcription	Gastric	stomach
7	chr15:57847800-57859200	Weak transcription	Ovary	ovary
8	chr15:57847800-57859200	Weak transcription	Right Atrium	heart
9	chr15:57852000-57856400	Enhancers	Stomach Mucosa	stomach
10	chr15:57853200-57856200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr15:57853200-57856400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr15:57853400-57856200	Enhancers	Primary T cells from cord blood	blood
13	chr15:57853400-57856400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr15:57853400-57856600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr15:57853400-57857400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:57853600-57857400	Weak transcription	Adipose Nuclei	Adipose
17	chr15:57853600-57857400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:57853600-57857600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:57853600-57859400	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:57853800-57856000	Enhancers	Primary hematopoietic stem cells	blood
21	chr15:57853800-57857200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:57853800-57857600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:57853800-57857600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr15:57853800-57859200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:57854000-57857400	Weak transcription	Fetal Intestine Large	intestine
26	chr15:57854000-57857400	Weak transcription	A549	lung
27	chr15:57854000-57857600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:57854000-57857600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr15:57854000-57857600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:57854200-57857400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr15:57854400-57855800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:57854400-57855800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr15:57854400-57855800	Enhancers	Left Ventricle	heart
34	chr15:57854400-57857400	Weak transcription	Primary B cells from cord blood	blood
35	chr15:57854600-57855800	Enhancers	Fetal Thymus	thymus
36	chr15:57854600-57858800	Weak transcription	Fetal Lung	lung
37	chr15:57854800-57857400	Weak transcription	HMEC	breast
38	chr15:57854800-57859000	Weak transcription	Pancreas	Pancrea
39	chr15:57854800-57859000	Weak transcription	HUVEC	blood vessel
40	chr15:57854800-57862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:57854800-57869800	Weak transcription	Lung	lung
42	chr15:57855000-57856400	Enhancers	Fetal Intestine Small	intestine
43	chr15:57855000-57857400	Weak transcription	Hela-S3	cervix
44	chr15:57855000-57857400	Weak transcription	NHEK	skin
45	chr15:57855200-57857400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:57855400-57856200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:57855400-57856200	Enhancers	Fetal Heart	heart
48	chr15:57855600-57855800	Enhancers	Primary B cells from peripheral blood	blood
49	chr15:57855600-57855800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
50	chr15:57855600-57855800	Enhancers	GM12878-XiMat	blood

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