Variant report

Variant	rs12103424
Chromosome Location	chr17:17666406-17666407
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17659432..17661536-chr17:17665485..17667316,2	MCF-7	breast:
2	chr17:17583444..17585781-chr17:17663844..17666958,3	MCF-7	breast:
3	chr17:17664272..17667251-chr17:17671007..17673640,2	K562	blood:
4	chr17:17653399..17659141-chr17:17659467..17667043,10	MCF-7	breast:
5	chr17:17603600..17605655-chr17:17664969..17667874,2	MCF-7	breast:
6	chr17:17658765..17660806-chr17:17665876..17668374,2	MCF-7	breast:
7	chr17:17659679..17662108-chr17:17664180..17666491,2	K562	blood:
8	chr17:17584558..17587780-chr17:17664118..17668117,3	K562	blood:
9	chr17:17662991..17666589-chr17:17675062..17678538,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55771242	1.00[AMR][1000 genomes]
rs55857551	1.00[AMR][1000 genomes]
rs56346131	1.00[AMR][1000 genomes]
rs58246526	1.00[AMR][1000 genomes]
rs59995125	1.00[AMR][1000 genomes]
rs73290168	1.00[AMR][1000 genomes]
rs73295661	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295671	1.00[AFR][1000 genomes]
rs73295695	1.00[AMR][1000 genomes]
rs73297806	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298550	1.00[AMR][1000 genomes]
rs73298582	1.00[AMR][1000 genomes]
rs73303826	1.00[AMR][1000 genomes]
rs73303852	1.00[AMR][1000 genomes]
rs9905548	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	nsv532109	chr17:17630064-17700497	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1059949	chr17:17632590-17803194	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
25	nsv543244	chr17:17632590-17803194	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
26	nsv907760	chr17:17649423-17782404	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
27	nsv907761	chr17:17649423-17802478	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	74 gene(s)	inside rSNPs	diseases
28	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17656600-17682200	Weak transcription	Small Intestine	intestine
2	chr17:17656800-17668800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:17656800-17669800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr17:17656800-17669800	Weak transcription	Colonic Mucosa	Colon
5	chr17:17657000-17670400	Weak transcription	NH-A	brain
6	chr17:17657000-17677400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr17:17657200-17669600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:17657200-17675200	Weak transcription	Osteobl	bone
9	chr17:17657400-17666800	Weak transcription	HSMM	muscle
10	chr17:17657400-17667200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:17657400-17668600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:17657400-17668800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr17:17657400-17671000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:17658800-17668800	Weak transcription	Brain Substantia Nigra	brain
15	chr17:17659000-17667600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:17659400-17666600	Weak transcription	A549	lung
17	chr17:17660000-17667000	Genic enhancers	Fetal Intestine Small	intestine
18	chr17:17660200-17668600	Weak transcription	Fetal Lung	lung
19	chr17:17660600-17668600	Enhancers	Primary hematopoietic stem cells	blood
20	chr17:17661000-17669200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr17:17661200-17669200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr17:17661200-17670200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr17:17661400-17667200	Weak transcription	GM12878-XiMat	blood
24	chr17:17661600-17668200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:17661600-17668400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr17:17661800-17669400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:17661800-17670400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr17:17662000-17667200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:17662000-17683800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:17662200-17666800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:17662200-17667200	Enhancers	Right Ventricle	heart
32	chr17:17662200-17668600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr17:17662200-17669200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr17:17662400-17666800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:17662400-17667000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:17662400-17667400	Enhancers	Left Ventricle	heart
37	chr17:17662600-17666800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr17:17662600-17667000	Weak transcription	Primary B cells from cord blood	blood
39	chr17:17662600-17667200	Weak transcription	Primary T cells from cord blood	blood
40	chr17:17662600-17667200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr17:17662600-17668600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:17662600-17668600	Weak transcription	Gastric	stomach
43	chr17:17662600-17669000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr17:17662800-17666800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr17:17663000-17677800	Weak transcription	Aorta	Aorta
46	chr17:17663200-17668600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:17663400-17666600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:17663600-17668400	Weak transcription	HMEC	breast
49	chr17:17663600-17668800	Weak transcription	Brain Anterior Caudate	brain
50	chr17:17663800-17668600	Weak transcription	Esophagus	oesophagus

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