Variant report

Variant	rs12449524
Chromosome Location	chr17:17596461-17596462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17592971..17596816-chr17:17655717..17659704,4	MCF-7	breast:
2	chr17:17596211..17599216-chr17:17709321..17712358,3	MCF-7	breast:
3	chr17:17593686..17602682-chr17:17684488..17692992,14	MCF-7	breast:
4	chr17:17596031..17599358-chr17:17737943..17741598,5	MCF-7	breast:
5	chr17:17591306..17603641-chr17:17622226..17637880,43	MCF-7	breast:
6	chr17:17594258..17600676-chr17:17738917..17745175,15	MCF-7	breast:
7	chr17:17594932..17600890-chr17:17651321..17655426,6	MCF-7	breast:
8	chr17:17596357..17599284-chr17:17741696..17744327,3	MCF-7	breast:
9	chr17:17594795..17598773-chr17:17639856..17643137,4	MCF-7	breast:
10	chr17:17595705..17598118-chr17:17712618..17714167,2	MCF-7	breast:
11	chr17:17596273..17597839-chr17:17685487..17687747,2	MCF-7	breast:
12	chr17:17596418..17598751-chr17:17739588..17742563,3	K562	blood:
13	chr17:17595881..17597399-chr17:17743800..17745983,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7225141	0.83[ASW][hapmap]
rs8071107	0.81[YRI][hapmap]

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	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv543239	chr17:17580295-17599851	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	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
18	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
19	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17587200-17597000	Weak transcription	HSMMtube	muscle
2	chr17:17590200-17597600	Weak transcription	Ovary	ovary
3	chr17:17590600-17597600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:17592200-17597200	Enhancers	Fetal Intestine Large	intestine
5	chr17:17592600-17596800	Enhancers	Duodenum Mucosa	Duodenum
6	chr17:17592600-17597000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:17592600-17597200	Enhancers	Stomach Mucosa	stomach
8	chr17:17593000-17596600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr17:17593000-17597000	Enhancers	Primary T cells from cord blood	blood
10	chr17:17593000-17597200	Enhancers	Primary hematopoietic stem cells	blood
11	chr17:17593000-17597200	Enhancers	Thymus	Thymus
12	chr17:17593000-17597600	Enhancers	Fetal Thymus	thymus
13	chr17:17593200-17597200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr17:17593200-17597200	Enhancers	Left Ventricle	heart
15	chr17:17593200-17597400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr17:17593400-17596800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:17593400-17597000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:17593400-17597200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr17:17593400-17597200	Enhancers	Dnd41	blood
20	chr17:17593400-17597400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:17593600-17596800	Enhancers	Fetal Heart	heart
22	chr17:17593600-17596800	Enhancers	HUVEC	blood vessel
23	chr17:17593600-17597200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr17:17593600-17597400	Enhancers	Primary B cells from cord blood	blood
25	chr17:17593800-17597000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:17593800-17597000	Enhancers	Fetal Lung	lung
27	chr17:17593800-17597200	Enhancers	Primary B cells from peripheral blood	blood
28	chr17:17593800-17597200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr17:17593800-17597400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr17:17593800-17597400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr17:17593800-17597600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr17:17593800-17598200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr17:17594000-17596600	Enhancers	Fetal Brain Female	brain
34	chr17:17594000-17597000	Enhancers	Pancreas	Pancrea
35	chr17:17594000-17597200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:17594000-17597400	Enhancers	Fetal Stomach	stomach
37	chr17:17594000-17597800	Enhancers	Gastric	stomach
38	chr17:17594200-17597200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:17594200-17597400	Enhancers	Fetal Muscle Leg	muscle
40	chr17:17594200-17597600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr17:17594200-17599600	Enhancers	Fetal Brain Male	brain
42	chr17:17594400-17596600	Enhancers	Brain Germinal Matrix	brain
43	chr17:17594400-17596800	Enhancers	Brain Angular Gyrus	brain
44	chr17:17594400-17596800	Enhancers	Right Ventricle	heart
45	chr17:17594400-17597000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr17:17594400-17597200	Enhancers	Spleen	Spleen
47	chr17:17594400-17597200	Enhancers	NH-A	brain
48	chr17:17594400-17597200	Enhancers	NHDF-Ad	bronchial
49	chr17:17594400-17597200	Enhancers	NHLF	lung
50	chr17:17594400-17597400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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