Variant report

Variant	rs60487474
Chromosome Location	chr17:33823391-33823392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr17:33823383-33823813	H1-hESC	embryonic stem cell:	n/a	n/a
2	EGR1	chr17:33823289-33823837	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr17:33822995-33824148	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33823247..33824032-chr17:58947679..58948317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267369	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16971032	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55661426	0.81[AMR][1000 genomes]
rs56185101	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60559153	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72828016	0.81[AMR][1000 genomes]

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	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv574741	chr17:33552275-33827134	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33815800-33826000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:33816000-33826400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:33820000-33823400	Enhancers	GM12878-XiMat	blood
4	chr17:33821600-33823400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr17:33821600-33823400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:33821600-33824200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:33822200-33824200	Strong transcription	Dnd41	blood
8	chr17:33822200-33826600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:33822400-33823600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
10	chr17:33822400-33823800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr17:33822400-33823800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr17:33822400-33823800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr17:33822400-33823800	Bivalent Enhancer	Fetal Thymus	thymus
14	chr17:33822400-33824000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr17:33822400-33824200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr17:33822600-33823400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr17:33822600-33823400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:33822600-33823600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:33822600-33823800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr17:33822600-33824200	Enhancers	Spleen	Spleen
21	chr17:33822800-33823400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
22	chr17:33822800-33823400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr17:33822800-33823400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
24	chr17:33822800-33823800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:33822800-33823800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:33822800-33823800	Bivalent Enhancer	Right Ventricle	heart
27	chr17:33822800-33823800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr17:33822800-33824200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr17:33823000-33823400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:33823000-33823400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr17:33823000-33823800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr17:33823000-33823800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr17:33823000-33826200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr17:33823000-33830400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr17:33823200-33823400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr17:33823200-33823400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
37	chr17:33823200-33823400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
38	chr17:33823200-33823600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr17:33823200-33823600	Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr17:33823200-33823600	Weak transcription	Pancreas	Pancrea
41	chr17:33823200-33823600	Flanking Active TSS	Right Atrium	heart
42	chr17:33823200-33823800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr17:33823200-33823800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:33823200-33824000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr17:33823200-33824000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr17:33823200-33824200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr17:33823200-33824200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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