Variant report

Variant	rs12603026
Chromosome Location	chr17:17629695-17629696
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17592326..17594289-chr17:17629222..17631306,2	K562	blood:
2	chr17:17591306..17603641-chr17:17622226..17637880,43	MCF-7	breast:
3	chr17:17628659..17631586-chr17:17715633..17718391,2	MCF-7	breast:
4	chr17:17626085..17630406-chr17:17685140..17688350,6	MCF-7	breast:
5	chr17:17582718..17591238-chr17:17621630..17636217,47	MCF-7	breast:
6	chr17:17621090..17625652-chr17:17628958..17633678,4	K562	blood:
7	chr17:17623843..17637985-chr17:17653006..17664308,33	MCF-7	breast:
8	chr17:17624565..17630367-chr17:17651647..17657037,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207839	Chromatin interaction
ENSG00000108557	Chromatin interaction
ENSG00000072310	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11078396	0.83[ASN][1000 genomes]
rs12103565	0.80[ASN][1000 genomes]
rs12600386	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12601751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12603069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12603397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2282180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58667361	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73295697	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73300562	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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
19	nsv907756	chr17:17619859-17747289	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
20	nsv522668	chr17:17619859-17752809	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
21	nsv907757	chr17:17619859-17752809	Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
22	nsv907758	chr17:17619859-17782404	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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	72 gene(s)	inside rSNPs	diseases
23	nsv907759	chr17:17619859-17802478	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17616200-17642000	Weak transcription	K562	blood
2	chr17:17625400-17629800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr17:17625400-17629800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:17627600-17629800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:17627600-17629800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr17:17627800-17630800	Weak transcription	Liver	Liver
7	chr17:17627800-17642600	Weak transcription	Aorta	Aorta
8	chr17:17628000-17629800	Enhancers	Duodenum Mucosa	Duodenum
9	chr17:17628000-17629800	Enhancers	Lung	lung
10	chr17:17628000-17630000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr17:17628000-17630200	Enhancers	Stomach Mucosa	stomach
12	chr17:17628000-17630400	Weak transcription	NHEK	skin
13	chr17:17628000-17630800	Active TSS	Brain Anterior Caudate	brain
14	chr17:17628000-17632200	Enhancers	Spleen	Spleen
15	chr17:17628000-17633000	Weak transcription	NHDF-Ad	bronchial
16	chr17:17628000-17635800	Weak transcription	HSMM	muscle
17	chr17:17628200-17629800	Enhancers	Left Ventricle	heart
18	chr17:17628200-17630000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr17:17628200-17630000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr17:17628200-17630000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr17:17628200-17631800	Weak transcription	NHLF	lung
22	chr17:17628200-17636200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr17:17628400-17629800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr17:17628400-17629800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:17628400-17629800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr17:17628400-17630000	Enhancers	Primary B cells from peripheral blood	blood
27	chr17:17628400-17630400	Enhancers	Primary B cells from cord blood	blood
28	chr17:17628400-17630400	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr17:17628400-17630600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr17:17628400-17630600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr17:17628400-17636600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:17628600-17629800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:17628600-17629800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:17628600-17629800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:17628600-17630000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:17628600-17630000	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr17:17628600-17630400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr17:17628600-17630800	Genic enhancers	HMEC	breast
39	chr17:17628600-17631200	Weak transcription	Thymus	Thymus
40	chr17:17628800-17629800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr17:17628800-17629800	Enhancers	Fetal Lung	lung
42	chr17:17628800-17629800	Enhancers	Stomach Smooth Muscle	stomach
43	chr17:17628800-17629800	Enhancers	GM12878-XiMat	blood
44	chr17:17628800-17630000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr17:17628800-17630000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr17:17628800-17630000	Enhancers	Fetal Brain Male	brain
47	chr17:17628800-17630000	Genic enhancers	Fetal Intestine Small	intestine
48	chr17:17628800-17630000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr17:17628800-17630200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr17:17628800-17630200	Enhancers	Adipose Nuclei	Adipose

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