Variant report

Variant	rs58144323
Chromosome Location	chr17:16191301-16191302
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16188072..16192244-chr17:16282440..16289447,10	K562	blood:
2	chr17:16189460..16191732-chr17:16340312..16341951,2	K562	blood:
3	chr17:16187978..16191408-chr17:16282408..16285625,11	K562	blood:
4	chr17:16187182..16191519-chr17:16253380..16257839,12	K562	blood:
5	chr17:16115662..16122557-chr17:16186487..16191394,14	K562	blood:
6	chr17:16116139..16120988-chr17:16188310..16192683,4	MCF-7	breast:
7	chr17:16188324..16192785-chr17:16195612..16200767,7	K562	blood:
8	chr17:16189482..16191401-chr17:16347392..16349028,2	K562	blood:
9	chr17:16189235..16191423-chr8:145514360..145516525,2	MCF-7	breast:
10	chr17:16145216..16149469-chr17:16187670..16191741,4	K562	blood:
11	chr17:16189141..16191502-chr17:16283913..16285780,3	MCF-7	breast:
12	chr17:16189537..16191831-chr17:16255657..16257427,2	MCF-7	breast:
13	chr17:16189537..16191519-chr17:16254605..16257719,4	K562	blood:
14	chr17:16189886..16192515-chr17:16344238..16345817,2	K562	blood:
15	chr17:16116452..16122627-chr17:16187627..16192896,12	K562	blood:
16	chr17:16189283..16191732-chr17:16340312..16342740,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108474	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000265401	Chromatin interaction
ENSG00000170727	Chromatin interaction
ENSG00000166582	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000185122	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000175061	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3815037	1.00[AMR][1000 genomes]
rs4588022	0.87[AFR][1000 genomes]
rs58020313	1.00[AMR][1000 genomes]
rs61314420	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
8	esv3326983	chr17:16138963-16210147	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	21 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16166200-16205400	Weak transcription	Brain Hippocampus Middle	brain
2	chr17:16181200-16205400	Weak transcription	Dnd41	blood
3	chr17:16184600-16191600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:16186800-16191400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:16187200-16205200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:16188800-16191400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr17:16188800-16191400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:16188800-16191600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:16188800-16194600	Enhancers	Fetal Intestine Large	intestine
10	chr17:16189000-16191400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:16189000-16191400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr17:16189000-16191400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:16189000-16191400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr17:16189000-16191400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr17:16189000-16191400	Flanking Active TSS	GM12878-XiMat	blood
16	chr17:16189000-16191400	Flanking Active TSS	HUVEC	blood vessel
17	chr17:16189000-16191600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr17:16189000-16191600	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr17:16189000-16191600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:16189000-16191600	Enhancers	Fetal Kidney	kidney
21	chr17:16189000-16191800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr17:16189200-16191400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr17:16189400-16193200	Enhancers	Stomach Mucosa	stomach
24	chr17:16189400-16216600	Weak transcription	Fetal Brain Female	brain
25	chr17:16189600-16191400	Flanking Active TSS	K562	blood
26	chr17:16189800-16191400	Flanking Active TSS	Hela-S3	cervix
27	chr17:16189800-16191600	Flanking Active TSS	A549	lung
28	chr17:16189800-16191800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr17:16189800-16191800	Enhancers	Placenta	Placenta
30	chr17:16189800-16192800	Enhancers	Fetal Thymus	thymus
31	chr17:16189800-16193200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr17:16189800-16200400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:16190000-16191400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:16190000-16191400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:16190000-16191400	Flanking Active TSS	NHLF	lung
36	chr17:16190000-16191600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr17:16190000-16191600	Flanking Active TSS	Osteobl	bone
38	chr17:16190000-16191800	Enhancers	Thymus	Thymus
39	chr17:16190000-16192600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr17:16190000-16192800	Enhancers	Small Intestine	intestine
41	chr17:16190000-16193200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:16190000-16194000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr17:16190200-16191400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr17:16190200-16191600	Enhancers	HMEC	breast
45	chr17:16190200-16191600	Enhancers	NHDF-Ad	bronchial
46	chr17:16190200-16192000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:16190200-16192200	Enhancers	Colonic Mucosa	Colon
48	chr17:16190200-16193200	Enhancers	Liver	Liver
49	chr17:16190200-16194000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr17:16190200-16200800	Weak transcription	H1 Cell Line	embryonic stem cell

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