Variant report

Variant	rs2230317
Chromosome Location	chr17:18010536-18010537
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:18010384-18010813	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr17:18010488-18014366	K562	blood:	n/a	n/a
3	POLR2A	chr17:18010472-18015836	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18008903..18011333-chr17:18013439..18016712,3	K562	blood:
2	chr17:18004673..18008844-chr17:18009305..18012045,5	K562	blood:
3	chr17:18008952..18011744-chr17:18014672..18019225,4	MCF-7	breast:
4	chr17:17989884..17994353-chr17:18008301..18011863,4	MCF-7	breast:
5	chr17:18008903..18011616-chr17:18013439..18016712,4	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATPAF2-2	chr17:18009717-18011585	NONHSAT146144
2	lnc-ATPAF2-2	chr17:18009717-18011949	NONHSAT146145
3	lnc-ATPAF2-2	chr17:18009717-18014392	NONHSAT146147

No data

Variant related genes	Relation type
MYO15A	TF binding region
ENSG00000108591	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1006770	1.00[AMR][1000 genomes]
rs11868625	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4997327	1.00[AMR][1000 genomes]
rs7214844	1.00[AMR][1000 genomes]
rs72561771	1.00[AMR][1000 genomes]
rs8072048	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[AMR][1000 genomes]

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	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
2	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
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription 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 target site	38 gene(s)	inside rSNPs	diseases
6	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv457697	chr17:18003845-18046290	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv574527	chr17:18003845-18046290	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17992200-18014000	Weak transcription	Right Atrium	heart
2	chr17:17993000-18012000	Strong transcription	Fetal Muscle Trunk	muscle
3	chr17:17993200-18011200	Strong transcription	Fetal Stomach	stomach
4	chr17:17994000-18010800	Strong transcription	Dnd41	blood
5	chr17:17994200-18010800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:17994200-18010800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:17994200-18011000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:17994200-18011000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:17994200-18011600	Strong transcription	Fetal Muscle Leg	muscle
10	chr17:17994200-18011800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr17:17994200-18012000	Strong transcription	Fetal Intestine Small	intestine
12	chr17:17994400-18011000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:17994400-18011400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr17:17994600-18011200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:17994600-18012800	Strong transcription	Thymus	Thymus
16	chr17:17995000-18010800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:17995000-18011200	Strong transcription	Placenta	Placenta
18	chr17:17995200-18011000	Strong transcription	Ovary	ovary
19	chr17:17995200-18011000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr17:17995200-18011000	Strong transcription	NHLF	lung
21	chr17:17995200-18011400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:17995200-18011400	Strong transcription	Lung	lung
23	chr17:17995200-18011400	Strong transcription	A549	lung
24	chr17:17995200-18011600	Strong transcription	Fetal Intestine Large	intestine
25	chr17:17995400-18011000	Strong transcription	Adipose Nuclei	Adipose
26	chr17:17995400-18011400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:17996200-18011000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr17:17996400-18011000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr17:17996800-18011000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:17996800-18011200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr17:17997000-18010800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr17:17997000-18010800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr17:17997000-18010800	Strong transcription	Aorta	Aorta
34	chr17:17997000-18010800	Strong transcription	Brain Anterior Caudate	brain
35	chr17:17997000-18011000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr17:17997000-18011200	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr17:17997200-18011000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:17997600-18011000	Weak transcription	Fetal Heart	heart
39	chr17:17997600-18011000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:17998000-18011000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:17998000-18011200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:17998000-18011600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:17998600-18011200	Strong transcription	Right Ventricle	heart
44	chr17:17998600-18011200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr17:17999000-18011000	Strong transcription	Brain Germinal Matrix	brain
46	chr17:17999000-18011000	Strong transcription	Esophagus	oesophagus
47	chr17:17999000-18011000	Strong transcription	Gastric	stomach
48	chr17:17999200-18011200	Strong transcription	Brain Hippocampus Middle	brain
49	chr17:17999400-18011000	Strong transcription	Colonic Mucosa	Colon
50	chr17:18000400-18010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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