Variant report

Variant	rs12453392
Chromosome Location	chr17:45143646-45143647
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45143352..45146051-chr17:45399301..45401762,3	K562	blood:
2	chr17:45143352..45144907-chr17:45399301..45401186,2	K562	blood:

Variant related genes	Relation type
ENSG00000263293	Chromatin interaction
ENSG00000178852	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2678708	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv522797	chr17:45084279-45183152	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv1851648	chr17:45091619-45146146	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	esv1846431	chr17:45092987-45145946	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	esv21010	chr17:45125753-45177221	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
15	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription 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 target site	13 gene(s)	inside rSNPs	diseases
16	esv9886	chr17:45142849-45153796	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45125400-45143800	Weak transcription	NHLF	lung
2	chr17:45128200-45143800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr17:45128800-45144600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:45129400-45144200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:45129800-45144000	Weak transcription	Hela-S3	cervix
6	chr17:45130000-45144200	Weak transcription	Primary B cells from cord blood	blood
7	chr17:45130600-45143800	Weak transcription	NHEK	skin
8	chr17:45131200-45144000	Weak transcription	Brain Germinal Matrix	brain
9	chr17:45131800-45144600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr17:45132000-45144600	Weak transcription	Spleen	Spleen
11	chr17:45132600-45143800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr17:45132600-45144000	Weak transcription	HMEC	breast
13	chr17:45132600-45144200	Weak transcription	Colonic Mucosa	Colon
14	chr17:45133600-45144200	Weak transcription	Fetal Brain Female	brain
15	chr17:45133800-45144000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr17:45133800-45144000	Weak transcription	Colon Smooth Muscle	Colon
17	chr17:45133800-45144200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr17:45133800-45144200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:45133800-45144200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr17:45133800-45144200	Weak transcription	Esophagus	oesophagus
21	chr17:45133800-45144200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr17:45134000-45143800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:45134000-45143800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr17:45134000-45143800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr17:45134000-45144000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr17:45134000-45144000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr17:45134000-45144000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr17:45134000-45144200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr17:45134000-45144200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:45134000-45144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:45134000-45144200	Weak transcription	Placenta	Placenta
32	chr17:45134000-45144200	Weak transcription	Ovary	ovary
33	chr17:45134000-45144200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr17:45134000-45144200	Weak transcription	Right Ventricle	heart
35	chr17:45134000-45144200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:45134000-45144600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr17:45134200-45144000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr17:45134200-45144600	Weak transcription	Gastric	stomach
39	chr17:45135000-45143800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:45142000-45144200	Weak transcription	Fetal Stomach	stomach
41	chr17:45142200-45144200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:45142200-45144200	Weak transcription	Aorta	Aorta
43	chr17:45142200-45144400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:45142200-45144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:45142600-45143800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:45142600-45143800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:45142600-45144000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr17:45142600-45144200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr17:45142600-45144200	Weak transcription	Fetal Intestine Small	intestine
50	chr17:45142600-45144200	Weak transcription	Fetal Muscle Trunk	muscle

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