Variant report

Variant	rs553430458
Chromosome Location	chr15:76454899-76454900
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76436435..76439411-chr15:76454805..76456724,2	K562	blood:
2	chr15:76452254..76455049-chr15:76455599..76457140,2	K562	blood:
3	chr15:76452837..76455028-chr15:76460465..76463193,2	K562	blood:
4	chr15:76453448..76455028-chr15:76460465..76463377,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers 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
2	nsv1048760	chr15:76334544-76496977	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS 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
4	nsv1039595	chr15:76431374-76483342	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv1045860	chr15:76431374-76485536	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv1053643	chr15:76431374-76485966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv1052496	chr15:76432823-76484981	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv1036319	chr15:76432823-76489955	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv1035806	chr15:76435640-76483342	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1047539	chr15:76435640-76485966	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1042750	chr15:76435640-76490547	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1054289	chr15:76437970-76485966	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1035389	chr15:76444695-76483342	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	nsv1041435	chr15:76444695-76484981	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv1046448	chr15:76444695-76485966	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv1046099	chr15:76444695-76490547	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv1054300	chr15:76445689-76483342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv1044603	chr15:76445689-76484981	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv1043026	chr15:76445689-76485966	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv1040683	chr15:76454194-76483342	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
21	nsv1041619	chr15:76454194-76484981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	nsv1046485	chr15:76454194-76485536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	nsv1053572	chr15:76454194-76485966	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv1049916	chr15:76454194-76490547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76443200-76483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:76443400-76466000	Weak transcription	Brain Angular Gyrus	brain
3	chr15:76448800-76456000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:76452600-76456000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:76452800-76455000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:76452800-76455800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr15:76452800-76456600	Enhancers	Pancreas	Pancrea
8	chr15:76452800-76458800	Enhancers	Placenta	Placenta
9	chr15:76452800-76459200	Enhancers	Fetal Muscle Leg	muscle
10	chr15:76453000-76455800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:76453000-76456000	Enhancers	Esophagus	oesophagus
12	chr15:76453000-76456200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr15:76453000-76457600	Enhancers	Adipose Nuclei	Adipose
14	chr15:76453000-76459000	Enhancers	Ovary	ovary
15	chr15:76453200-76455800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:76453200-76456400	Enhancers	HSMM	muscle
17	chr15:76453200-76456800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:76453200-76457400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:76453200-76457600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr15:76453400-76457600	Enhancers	Fetal Lung	lung
21	chr15:76453400-76457600	Enhancers	Spleen	Spleen
22	chr15:76453400-76459000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr15:76453400-76461000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:76453600-76455600	Enhancers	Colon Smooth Muscle	Colon
25	chr15:76453600-76456400	Enhancers	Fetal Brain Male	brain
26	chr15:76453800-76455000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:76453800-76455200	Enhancers	Hela-S3	cervix
28	chr15:76453800-76456200	Enhancers	Fetal Intestine Small	intestine
29	chr15:76453800-76456200	Enhancers	Stomach Smooth Muscle	stomach
30	chr15:76453800-76456600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:76453800-76456800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:76453800-76457600	Enhancers	Psoas Muscle	Psoas
33	chr15:76454000-76455000	Enhancers	Osteobl	bone
34	chr15:76454000-76455600	Enhancers	Right Ventricle	heart
35	chr15:76454000-76456400	Enhancers	Colonic Mucosa	Colon
36	chr15:76454000-76456600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr15:76454000-76457000	Enhancers	Fetal Stomach	stomach
38	chr15:76454200-76455200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:76454200-76455200	Weak transcription	Lung	lung
40	chr15:76454200-76455200	Weak transcription	Right Atrium	heart
41	chr15:76454200-76455200	Weak transcription	HMEC	breast
42	chr15:76454200-76455400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:76454200-76455600	Bivalent Enhancer	HepG2	liver
44	chr15:76454200-76455800	Enhancers	Fetal Brain Female	brain
45	chr15:76454400-76456400	Enhancers	HSMMtube	muscle
46	chr15:76454600-76455800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:76454600-76456000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr15:76454600-76461000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:76454800-76455000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr15:76454800-76455200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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