Variant report

Variant	rs60944926
Chromosome Location	chr17:46590719-46590720
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46578035..46580947-chr17:46589126..46591025,3	K562	blood:
2	chr17:46583694..46585677-chr17:46589290..46592117,3	K562	blood:
3	chr17:46590407..46593001-chr17:46595445..46597263,2	MCF-7	breast:
4	chr17:46578669..46581323-chr17:46590008..46592021,2	MCF-7	breast:
5	chr17:46589537..46591935-chr17:46661739..46663956,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1022086	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12951643	0.84[ASN][1000 genomes]
rs36087615	0.84[ASN][1000 genomes]
rs56238990	0.84[ASN][1000 genomes]
rs56315233	0.84[ASN][1000 genomes]
rs6504280	0.92[EUR][1000 genomes]
rs8074239	0.92[EUR][1000 genomes]
rs8078201	0.83[EUR][1000 genomes]
rs8078849	0.88[EUR][1000 genomes]
rs953732	0.84[ASN][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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46585000-46591600	Weak transcription	HSMM	muscle
2	chr17:46587800-46591800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr17:46589200-46593600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:46589400-46590800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:46590200-46591000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:46590200-46591200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr17:46590200-46591200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:46590200-46592000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr17:46590200-46592200	Flanking Active TSS	GM12878-XiMat	blood
10	chr17:46590400-46590800	Active TSS	Primary hematopoietic stem cells	blood
11	chr17:46590400-46590800	Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr17:46590400-46590800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr17:46590400-46590800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:46590400-46590800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr17:46590400-46590800	Enhancers	Liver	Liver
16	chr17:46590400-46590800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr17:46590400-46590800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr17:46590400-46591000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr17:46590400-46591000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr17:46590400-46591000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
21	chr17:46590400-46591200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr17:46590400-46591200	Flanking Active TSS	K562	blood
23	chr17:46590400-46591400	Enhancers	Rectal Smooth Muscle	rectum
24	chr17:46590400-46591600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr17:46590400-46591600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:46590400-46591600	Bivalent Enhancer	Stomach Mucosa	stomach
27	chr17:46590400-46592200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:46590400-46592200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:46590400-46592200	Enhancers	A549	lung
30	chr17:46590600-46590800	Active TSS	Colon Smooth Muscle	Colon
31	chr17:46590600-46590800	Active TSS	Right Atrium	heart
32	chr17:46590600-46591000	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr17:46590600-46591000	Bivalent Enhancer	Fetal Thymus	thymus
34	chr17:46590600-46591200	Enhancers	Placenta	Placenta
35	chr17:46590600-46591400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:46590600-46591400	Enhancers	Colonic Mucosa	Colon
37	chr17:46590600-46591400	Enhancers	Gastric	stomach
38	chr17:46590600-46592000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:46590600-46592000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr17:46590600-46592000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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