Variant report

Variant	rs139133663
Chromosome Location	chr17:16285364-16285365
allele	A/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16282813..16296019-chr17:16339657..16347255,30	K562	blood:
2	chr17:16280844..16288183-chr17:16338320..16344372,17	MCF-7	breast:
3	chr17:16120523..16122902-chr17:16284277..16285939,2	MCF-7	breast:
4	chr17:16117769..16122024-chr17:16284027..16287393,3	K562	blood:
5	chr17:16115684..16120775-chr17:16282002..16285784,4	MCF-7	breast:
6	chr17:16282285..16286163-chr17:16348924..16355139,5	K562	blood:
7	chr12:125395295..125399195-chr17:16283774..16286758,3	K562	blood:
8	chr17:16246064..16249335-chr17:16283382..16285642,3	MCF-7	breast:
9	chr17:16244398..16248540-chr17:16283211..16286242,3	MCF-7	breast:
10	chr17:16282841..16285518-chr17:16329026..16332012,2	K562	blood:
11	chr17:16255429..16259810-chr17:16283456..16285929,5	K562	blood:
12	chr17:16283653..16286565-chr17:16321807..16325393,5	MCF-7	breast:
13	chr17:16282157..16292955-chr17:16316721..16324527,22	K562	blood:
14	chr17:16282507..16286910-chr17:16340967..16348886,17	K562	blood:
15	chr17:16283022..16285941-chr17:16293957..16297490,5	MCF-7	breast:
16	chr17:16282005..16293050-chr17:16338399..16351573,30	MCF-7	breast:
17	chr17:16117555..16120555-chr17:16284027..16286497,3	K562	blood:
18	chr17:16255039..16258110-chr17:16282983..16285810,6	K562	blood:
19	chr17:16282157..16291704-chr17:16317315..16324527,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108474	Chromatin interaction
ENSG00000166582	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000265095	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000239203	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000181350	Chromatin interaction
ENSG00000264739	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
9	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
10	nsv978556	chr17:16268432-16302479	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv960424	chr17:16284855-16286202	Genic enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16283400-16285600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:16283600-16285400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr17:16283600-16285400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr17:16283600-16285400	Active TSS	HSMMtube	muscle
5	chr17:16283600-16285600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr17:16283600-16285600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr17:16283600-16285600	Active TSS	GM12878-XiMat	blood
8	chr17:16283600-16285800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:16283600-16285800	Active TSS	Brain Cingulate Gyrus	brain
10	chr17:16283600-16285800	Active TSS	Brain Hippocampus Middle	brain
11	chr17:16283600-16285800	Active TSS	Fetal Brain Female	brain
12	chr17:16283600-16285800	Active TSS	Right Ventricle	heart
13	chr17:16283600-16286000	Active TSS	Brain Angular Gyrus	brain
14	chr17:16283600-16286000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr17:16283600-16286000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr17:16283600-16286000	Active TSS	Fetal Kidney	kidney
17	chr17:16283600-16286200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:16283600-16286200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:16283800-16285400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr17:16283800-16285400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:16283800-16285400	Active TSS	Left Ventricle	heart
22	chr17:16283800-16285400	Active TSS	Lung	lung
23	chr17:16283800-16285600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr17:16283800-16285600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:16283800-16285600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:16283800-16285600	Active TSS	Liver	Liver
27	chr17:16283800-16285800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:16283800-16285800	Active TSS	Fetal Heart	heart
29	chr17:16283800-16285800	Active TSS	NHDF-Ad	bronchial
30	chr17:16283800-16285800	Active TSS	NHEK	skin
31	chr17:16283800-16285800	Active TSS	NHLF	lung
32	chr17:16283800-16286000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:16283800-16286000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:16283800-16286000	Active TSS	Rectal Smooth Muscle	rectum
35	chr17:16283800-16286000	Active TSS	K562	blood
36	chr17:16283800-16286400	Active TSS	Psoas Muscle	Psoas
37	chr17:16283800-16286400	Active TSS	Right Atrium	heart
38	chr17:16284000-16285400	Active TSS	Stomach Mucosa	stomach
39	chr17:16284000-16285600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr17:16284200-16285400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr17:16284200-16285400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:16284200-16285400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr17:16284200-16285400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr17:16284200-16285400	Active TSS	Aorta	Aorta
45	chr17:16284400-16285400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
46	chr17:16284400-16285600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr17:16284600-16285600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
48	chr17:16284600-16287000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
49	chr17:16284800-16285400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr17:16284800-16285400	Flanking Active TSS	Primary hematopoietic stem cells	blood

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