Variant report

Variant	rs12046651
Chromosome Location	chr1:113799598-113799599
allele	A/T
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	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	59 gene(s)	inside rSNPs	diseases
3	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3354454	chr1:113797629-113802027	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3327211	chr1:113798654-113801402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3320614	chr1:113799379-113800727	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
7	esv8291	chr1:113799408-113800352	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
8	esv3529310	chr1:113799471-113800200	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3529304	chr1:113799499-113800124	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv3320615	chr1:113799503-113800196	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv3529306	chr1:113799512-113800186	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
12	esv3320617	chr1:113799513-113800160	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
13	esv3529305	chr1:113799537-113800139	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
14	esv3320612	chr1:113799553-113800162	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
15	esv5296	chr1:113799563-113800199	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
16	esv3320616	chr1:113799567-113800115	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv3529309	chr1:113799570-113800140	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv3387804	chr1:113799590-113800110	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113794600-113799600	Enhancers	Fetal Intestine Small	intestine
2	chr1:113796000-113799600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:113796600-113799600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:113797000-113799600	Enhancers	Fetal Lung	lung
5	chr1:113798200-113799600	Enhancers	Placenta	Placenta
6	chr1:113798800-113817800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:113799000-113799600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:113799000-113799600	Enhancers	Fetal Intestine Large	intestine
9	chr1:113799200-113800800	Weak transcription	Pancreas	Pancrea
10	chr1:113799400-113800400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:113799400-113807600	Weak transcription	Stomach Mucosa	stomach
12	chr1:113799400-113824200	Weak transcription	Fetal Kidney	kidney

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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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