Variant report

Variant	rs556880181
Chromosome Location	chr12:50271889-50271890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3372497	chr12:50269585-50276583	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3401982	chr12:50270085-50275683	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3380248	chr12:50270185-50275783	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3378768	chr12:50270385-50275883	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3402398	chr12:50270935-50273433	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2568002	chr12:50271403-50273819	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3430675	chr12:50271462-50273486	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv9667	chr12:50271656-50273915	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3505051	chr12:50271745-50273176	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3366077	chr12:50271779-50273252	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3372831	chr12:50271808-50273201	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3375046	chr12:50271839-50273099	Strong transcription Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3505063	chr12:50271874-50273048	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50266200-50275400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:50267000-50275800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
4	chr12:50268200-50276400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:50269000-50274800	Strong transcription	Brain Inferior Temporal Lobe	brain
6	chr12:50269200-50273200	Strong transcription	Brain Angular Gyrus	brain
7	chr12:50269200-50274600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:50269400-50275400	Weak transcription	Fetal Stomach	stomach
9	chr12:50269800-50272000	Strong transcription	Brain Hippocampus Middle	brain
10	chr12:50270000-50276400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:50271200-50274600	Strong transcription	Brain Cingulate Gyrus	brain
12	chr12:50271400-50272200	Strong transcription	Fetal Brain Female	brain
13	chr12:50271400-50272200	ZNF genes & repeats	K562	blood
14	chr12:50271400-50274600	Strong transcription	Brain Anterior Caudate	brain
15	chr12:50271600-50274800	Strong transcription	Brain Substantia Nigra	brain
16	chr12:50271800-50272000	Enhancers	Pancreas	Pancrea
17	chr12:50271800-50273200	Strong transcription	Fetal Brain Male	brain
18	chr12:50271800-50273200	Weak transcription	Fetal Kidney	kidney
19	chr12:50271800-50274400	Weak transcription	Brain Germinal Matrix	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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