Variant report

Variant	rs564166646
Chromosome Location	chr17:16284874-16284875
allele	C/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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 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	chr17:16284703..16285236-chr7:23145227..23146017,2	Hela-S3	cervix:
16	chr17:16283022..16285941-chr17:16293957..16297490,5	MCF-7	breast:
17	chr17:16282005..16293050-chr17:16338399..16351573,30	MCF-7	breast:
18	chr17:16117555..16120555-chr17:16284027..16286497,3	K562	blood:
19	chr17:16255039..16258110-chr17:16282983..16285810,6	K562	blood:
20	chr17:16282157..16291704-chr17:16317315..16324527,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000150991	Chromatin interaction
ENSG00000122550	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000264739	Chromatin interaction
ENSG00000265095	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000166582	Chromatin interaction
ENSG00000239203	Chromatin interaction
ENSG00000181350	Chromatin interaction
ENSG00000230658	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000187688	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	chr17:16283400-16285200	Active TSS	Colonic Mucosa	Colon
2	chr17:16283400-16285600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:16283600-16285000	Active TSS	Primary T cells from cord blood	blood
4	chr17:16283600-16285000	Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr17:16283600-16285000	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr17:16283600-16285000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:16283600-16285000	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr17:16283600-16285000	Active TSS	Brain Anterior Caudate	brain
9	chr17:16283600-16285000	Active TSS	Fetal Muscle Trunk	muscle
10	chr17:16283600-16285000	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr17:16283600-16285000	Active TSS	Monocytes-CD14+_RO01746	blood
12	chr17:16283600-16285200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr17:16283600-16285200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:16283600-16285200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:16283600-16285200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr17:16283600-16285200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:16283600-16285200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:16283600-16285200	Active TSS	Colon Smooth Muscle	Colon
19	chr17:16283600-16285200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr17:16283600-16285200	Active TSS	Fetal Intestine Small	intestine
21	chr17:16283600-16285200	Active TSS	Fetal Stomach	stomach
22	chr17:16283600-16285200	Active TSS	Thymus	Thymus
23	chr17:16283600-16285200	Active TSS	Hela-S3	cervix
24	chr17:16283600-16285200	Active TSS	HSMM	muscle
25	chr17:16283600-16285200	Active TSS	Osteobl	bone
26	chr17:16283600-16285400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr17:16283600-16285400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr17:16283600-16285400	Active TSS	HSMMtube	muscle
29	chr17:16283600-16285600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr17:16283600-16285600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:16283600-16285600	Active TSS	GM12878-XiMat	blood
32	chr17:16283600-16285800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr17:16283600-16285800	Active TSS	Brain Cingulate Gyrus	brain
34	chr17:16283600-16285800	Active TSS	Brain Hippocampus Middle	brain
35	chr17:16283600-16285800	Active TSS	Fetal Brain Female	brain
36	chr17:16283600-16285800	Active TSS	Right Ventricle	heart
37	chr17:16283600-16286000	Active TSS	Brain Angular Gyrus	brain
38	chr17:16283600-16286000	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr17:16283600-16286000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:16283600-16286000	Active TSS	Fetal Kidney	kidney
41	chr17:16283600-16286200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr17:16283600-16286200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:16283800-16285000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr17:16283800-16285000	Active TSS	Primary B cells from peripheral blood	blood
45	chr17:16283800-16285000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:16283800-16285000	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr17:16283800-16285000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr17:16283800-16285000	Active TSS	Brain Substantia Nigra	brain
49	chr17:16283800-16285000	Active TSS	Duodenum Mucosa	Duodenum
50	chr17:16283800-16285000	Active TSS	Pancreatic Islets	Pancreatic Islet

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