Variant report

Variant	rs60445027
Chromosome Location	chr17:17605903-17605904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17604773..17606317-chr17:17612644..17614425,2	K562	blood:
2	chr17:17600888..17602944-chr17:17605272..17608312,3	K562	blood:
3	chr17:17604919..17606949-chr17:17738693..17741644,2	MCF-7	breast:
4	chr17:17588628..17590612-chr17:17604928..17606600,2	K562	blood:
5	chr17:17601444..17604142-chr17:17605171..17608312,3	K562	blood:

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10468465	1.00[AMR][1000 genomes]
rs4924824	1.00[AMR][1000 genomes]
rs73981022	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
6	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
7	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
8	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
11	nsv907755	chr17:17581184-17610587	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv833385	chr17:17594037-17765578	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
13	nsv1058884	chr17:17594370-17803194	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv543240	chr17:17594370-17803194	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv543241	chr17:17596222-17703059	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv1064176	chr17:17596222-17803194	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv543242	chr17:17596222-17803194	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv1062361	chr17:17598407-17746899	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
19	nsv543243	chr17:17598407-17746899	Genic enhancers Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17597400-17607000	Enhancers	Fetal Heart	heart
2	chr17:17598600-17607000	Enhancers	Fetal Lung	lung
3	chr17:17598800-17606800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr17:17598800-17608000	Enhancers	Lung	lung
5	chr17:17598800-17608000	Enhancers	Pancreas	Pancrea
6	chr17:17598800-17608200	Enhancers	Left Ventricle	heart
7	chr17:17599000-17606000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:17599200-17607400	Enhancers	Stomach Mucosa	stomach
9	chr17:17599200-17615600	Weak transcription	Primary B cells from cord blood	blood
10	chr17:17599400-17617200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr17:17599400-17617400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:17599600-17607000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:17599600-17612400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr17:17600400-17606800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr17:17600400-17614800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr17:17601000-17606000	Enhancers	Fetal Brain Male	brain
17	chr17:17601200-17607000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:17601400-17617600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr17:17601600-17607400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:17601600-17608600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr17:17602400-17610200	Weak transcription	GM12878-XiMat	blood
22	chr17:17602800-17606400	Weak transcription	Liver	Liver
23	chr17:17602800-17608000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:17602800-17613200	Weak transcription	Hela-S3	cervix
25	chr17:17602800-17613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr17:17602800-17613600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr17:17603200-17607000	Bivalent Enhancer	Placenta	Placenta
28	chr17:17603600-17606400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:17603600-17613800	Weak transcription	HSMM	muscle
30	chr17:17603800-17606000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr17:17604200-17606000	Enhancers	Psoas Muscle	Psoas
32	chr17:17604200-17607400	Enhancers	Esophagus	oesophagus
33	chr17:17604200-17608200	Enhancers	Right Ventricle	heart
34	chr17:17604200-17608400	Enhancers	Right Atrium	heart
35	chr17:17604200-17608600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:17604200-17613200	Weak transcription	HMEC	breast
37	chr17:17604200-17614000	Weak transcription	Small Intestine	intestine
38	chr17:17604400-17606000	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr17:17604400-17606200	Weak transcription	HUVEC	blood vessel
40	chr17:17604400-17606400	Weak transcription	NHLF	lung
41	chr17:17604400-17606600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:17604400-17606800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr17:17604400-17607000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:17604400-17607200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr17:17604400-17607600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:17604400-17607600	Enhancers	Brain Hippocampus Middle	brain
47	chr17:17604400-17607600	Enhancers	Gastric	stomach
48	chr17:17604400-17607600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr17:17604400-17607800	Genic enhancers	Fetal Intestine Small	intestine
50	chr17:17604400-17607800	Genic enhancers	A549	lung

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