Variant report

Variant	rs549306428
Chromosome Location	chr12:47531526-47531527
allele	-/AG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS 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	44 gene(s)	inside rSNPs	diseases
4	esv3374724	chr12:47531385-47535683	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1488715	chr12:47531525-47531526	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47497400-47535200	Weak transcription	Aorta	Aorta
2	chr12:47505800-47538600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:47506000-47535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:47506200-47538400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:47507400-47532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:47508400-47545200	Weak transcription	HSMMtube	muscle
7	chr12:47509400-47531800	Weak transcription	Primary T cells from cord blood	blood
8	chr12:47516200-47533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:47517000-47532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:47517200-47534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:47517400-47538400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:47518800-47533000	Weak transcription	NHEK	skin
13	chr12:47519400-47533000	Weak transcription	HSMM	muscle
14	chr12:47519600-47532400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:47525200-47535200	Weak transcription	Esophagus	oesophagus
16	chr12:47525800-47533200	Weak transcription	Spleen	Spleen
17	chr12:47526400-47533000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:47526600-47531800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:47527000-47547800	Weak transcription	Ovary	ovary
20	chr12:47527200-47533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:47528200-47533000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:47529400-47533400	Weak transcription	Pancreas	Pancrea
23	chr12:47529600-47535000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:47529600-47542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:47529800-47533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:47529800-47535000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:47530400-47531800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:47530400-47532000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:47531000-47532400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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