Variant report

Variant	rs12938840
Chromosome Location	chr17:17642003-17642004
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17641768..17644608-chr17:17649386..17652186,2	MCF-7	breast:
2	chr17:17636877..17639787-chr17:17641279..17643211,3	K562	blood:
3	chr17:17641322..17643141-chr17:17683351..17685398,2	K562	blood:
4	chr17:17641769..17643720-chr17:17654952..17657239,3	MCF-7	breast:
5	chr17:17594795..17598773-chr17:17639856..17643137,4	MCF-7	breast:
6	chr17:17623498..17628448-chr17:17639518..17645523,5	MCF-7	breast:
7	chr17:17630976..17634790-chr17:17640021..17644758,7	MCF-7	breast:
8	chr17:17641966..17643772-chr17:17672390..17675040,2	MCF-7	breast:
9	chr17:17615254..17617697-chr17:17640726..17643418,2	MCF-7	breast:
10	chr17:17631936..17635055-chr17:17641317..17644027,3	K562	blood:
11	chr17:17636877..17639787-chr17:17641279..17643211,2	K562	blood:
12	chr17:17641392..17642963-chr17:17657873..17660049,2	MCF-7	breast:
13	chr17:17583280..17588870-chr17:17641850..17648309,13	MCF-7	breast:
14	chr17:17583179..17588204-chr17:17638898..17644653,8	MCF-7	breast:
15	chr17:17641904..17643412-chr17:17648194..17650035,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237328	Chromatin interaction
ENSG00000108557	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12938914	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2001421	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2350962	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4074643	0.83[ASN][1000 genomes]
rs4636969	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4925103	0.88[ASN][1000 genomes]
rs4995264	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs720856	0.89[ASN][1000 genomes]
rs7213879	0.86[ASN][1000 genomes]
rs8067800	0.81[EUR][1000 genomes]
rs9900148	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9905702	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9907986	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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
24	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
25	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
26	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17627800-17642600	Weak transcription	Aorta	Aorta
2	chr17:17630800-17646000	Enhancers	Fetal Heart	heart
3	chr17:17631400-17642200	Weak transcription	Liver	Liver
4	chr17:17631400-17643600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:17636200-17648200	Weak transcription	Dnd41	blood
6	chr17:17637800-17645000	Enhancers	Fetal Thymus	thymus
7	chr17:17638000-17642800	Enhancers	Primary B cells from peripheral blood	blood
8	chr17:17638400-17643400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:17639000-17642400	Enhancers	Spleen	Spleen
10	chr17:17639000-17643800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr17:17639000-17643800	Enhancers	Right Atrium	heart
12	chr17:17639000-17644800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:17639000-17645000	Enhancers	Primary hematopoietic stem cells	blood
14	chr17:17639000-17646400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr17:17639000-17647600	Enhancers	Left Ventricle	heart
16	chr17:17639200-17642400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr17:17639200-17642800	Enhancers	Brain Hippocampus Middle	brain
18	chr17:17639200-17643200	Enhancers	Brain Germinal Matrix	brain
19	chr17:17639200-17643600	Enhancers	Duodenum Mucosa	Duodenum
20	chr17:17639200-17644400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr17:17639200-17646000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:17639400-17642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:17639400-17642800	Enhancers	Brain Cingulate Gyrus	brain
24	chr17:17639400-17643800	Genic enhancers	Fetal Stomach	stomach
25	chr17:17639400-17644800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:17639400-17645000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr17:17639600-17643400	Enhancers	NHDF-Ad	bronchial
28	chr17:17639600-17644200	Enhancers	HMEC	breast
29	chr17:17639600-17646200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr17:17639800-17644200	Enhancers	Primary T cells from cord blood	blood
31	chr17:17639800-17645000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:17640000-17643000	Enhancers	HSMM	muscle
33	chr17:17640000-17645000	Enhancers	Colon Smooth Muscle	Colon
34	chr17:17640000-17645400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr17:17640000-17646200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:17640200-17643800	Enhancers	Primary B cells from cord blood	blood
37	chr17:17640200-17645400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:17640200-17646200	Enhancers	Fetal Muscle Trunk	muscle
39	chr17:17640400-17642800	Enhancers	Placenta	Placenta
40	chr17:17640400-17643800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:17640400-17645600	Enhancers	Lung	lung
42	chr17:17640400-17647400	Enhancers	Right Ventricle	heart
43	chr17:17640600-17642200	Enhancers	GM12878-XiMat	blood
44	chr17:17640600-17642600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:17640600-17642800	Enhancers	Brain Angular Gyrus	brain
46	chr17:17640600-17642800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:17640600-17643000	Enhancers	Esophagus	oesophagus
48	chr17:17640600-17643000	Enhancers	Psoas Muscle	Psoas
49	chr17:17640600-17643400	Enhancers	Fetal Muscle Leg	muscle
50	chr17:17640600-17643600	Enhancers	Sigmoid Colon	Sigmoid Colon

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