Variant report

Variant	rs73324257
Chromosome Location	chr17:46723441-46723442
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46722567..46724409-chr17:46893384..46896337,2	K562	blood:

Variant related genes	Relation type
ENSG00000170703	Chromatin interaction

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

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

rs_ID	r²[population]
rs55755338	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55835425	1.00[EUR][1000 genomes]
rs59401592	1.00[ASN][1000 genomes]
rs60880448	1.00[ASN][1000 genomes]
rs877507	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
3	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
4	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised 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	364 gene(s)	inside rSNPs	diseases
5	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
6	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription 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	349 gene(s)	inside rSNPs	diseases
7	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers 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	356 gene(s)	inside rSNPs	diseases
8	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46720400-46723600	Weak transcription	Pancreas	Pancrea
2	chr17:46722000-46724400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
3	chr17:46722000-46724800	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr17:46722000-46725400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:46722400-46725200	Active TSS	A549	lung
6	chr17:46722600-46724600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:46722600-46725400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr17:46722800-46723600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
9	chr17:46722800-46723800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr17:46722800-46724800	Active TSS	K562	blood
11	chr17:46722800-46725000	Bivalent/Poised TSS	Small Intestine	intestine
12	chr17:46723000-46723600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
13	chr17:46723000-46724400	Active TSS	Hela-S3	cervix
14	chr17:46723000-46725400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr17:46723000-46725400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr17:46723200-46723600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
17	chr17:46723200-46723600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:46723200-46723600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr17:46723200-46723600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr17:46723200-46723600	Bivalent Enhancer	Placenta	Placenta
21	chr17:46723200-46723800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:46723200-46723800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:46723200-46724200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr17:46723200-46724800	Bivalent/Poised TSS	Colonic Mucosa	Colon
25	chr17:46723400-46723600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
26	chr17:46723400-46723600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:46723400-46723600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr17:46723400-46723600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr17:46723400-46723600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr17:46723400-46723600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
31	chr17:46723400-46723600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr17:46723400-46723800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr17:46723400-46723800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr17:46723400-46724000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr17:46723400-46724000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
36	chr17:46723400-46724000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
37	chr17:46723400-46724000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
38	chr17:46723400-46724000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:46723400-46724000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr17:46723400-46724200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:46723400-46724600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
42	chr17:46723400-46724600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
43	chr17:46723400-46724600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr17:46723400-46724600	Bivalent Enhancer	Fetal Brain Female	brain
45	chr17:46723400-46724800	Bivalent Enhancer	Fetal Stomach	stomach
46	chr17:46723400-46724800	Bivalent Enhancer	Fetal Thymus	thymus
47	chr17:46723400-46725000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr17:46723400-46725200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr17:46723400-46725200	Bivalent/Poised TSS	HSMM	muscle

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