Variant report

Variant	rs4924813
Chromosome Location	chr17:17616619-17616620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17612996..17615651-chr17:17616150..17617784,2	K562	blood:
2	chr17:17615254..17617697-chr17:17640726..17643418,2	MCF-7	breast:
3	chr17:17257197..17259273-chr17:17614438..17616951,2	K562	blood:
4	chr17:17615979..17617803-chr17:17679758..17682018,2	MCF-7	breast:
5	chr17:17616486..17618545-chr17:17735990..17737996,2	MCF-7	breast:
6	chr17:17615643..17617150-chr17:17618126..17620585,2	K562	blood:
7	chr17:17615835..17618255-chr17:17741726..17743796,2	K562	blood:

Variant related genes	Relation type
ENSG00000264167	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2001421	0.86[JPT][hapmap]
rs2350962	0.86[JPT][hapmap]
rs2882552	0.86[JPT][hapmap]
rs4074643	0.81[JPT][hapmap]
rs4244601	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4925103	0.86[JPT][hapmap]
rs4995264	0.86[JPT][hapmap]
rs7209595	0.86[JPT][hapmap]
rs7213879	0.86[JPT][hapmap]
rs8071107	0.81[JPT][hapmap]
rs9905702	0.86[JPT][hapmap]
rs9907986	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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	chr17:17599400-17617200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr17:17599400-17617400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr17:17601400-17617600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr17:17608600-17620400	Weak transcription	Dnd41	blood
5	chr17:17609400-17618200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:17611400-17617600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:17612200-17617000	Weak transcription	Adipose Nuclei	Adipose
8	chr17:17612800-17618000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:17613000-17618400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:17613200-17618000	Enhancers	HMEC	breast
11	chr17:17613200-17620200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:17613400-17617000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr17:17613400-17617200	Enhancers	Colon Smooth Muscle	Colon
14	chr17:17613400-17618200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:17613400-17621600	Weak transcription	Thymus	Thymus
16	chr17:17613600-17617000	Weak transcription	Primary T cells from cord blood	blood
17	chr17:17613600-17617200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr17:17613600-17617600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:17613600-17617600	Enhancers	NHDF-Ad	bronchial
20	chr17:17613600-17618600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:17613600-17624400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:17613800-17617200	Enhancers	Rectal Smooth Muscle	rectum
23	chr17:17613800-17617400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr17:17613800-17618200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr17:17613800-17618400	Enhancers	Osteobl	bone
26	chr17:17613800-17619000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr17:17614600-17617400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr17:17614800-17617200	Weak transcription	Psoas Muscle	Psoas
29	chr17:17614800-17618000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr17:17614800-17618200	Enhancers	Primary hematopoietic stem cells	blood
31	chr17:17614800-17618800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:17615000-17617000	Weak transcription	Ovary	ovary
33	chr17:17615000-17617200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr17:17615000-17617200	Weak transcription	Colonic Mucosa	Colon
35	chr17:17615000-17617600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr17:17615000-17617800	Weak transcription	Brain Substantia Nigra	brain
37	chr17:17615000-17617800	Weak transcription	Fetal Kidney	kidney
38	chr17:17615000-17618600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:17615000-17618600	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr17:17615000-17618600	Enhancers	NH-A	brain
41	chr17:17615200-17618000	Enhancers	NHLF	lung
42	chr17:17615200-17618400	Enhancers	HepG2	liver
43	chr17:17615400-17617000	Enhancers	Stomach Smooth Muscle	stomach
44	chr17:17615400-17617600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:17615400-17618800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:17615600-17617400	Weak transcription	Brain Angular Gyrus	brain
47	chr17:17615800-17617000	Weak transcription	Fetal Muscle Leg	muscle
48	chr17:17615800-17617200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:17615800-17617200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr17:17615800-17618400	Enhancers	A549	lung

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