Variant report

Variant	rs398049732
Chromosome Location	chr1:171129338-171129339
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv1552742	chr1:171129337-171129338	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171121400-171130200	Weak transcription	Right Atrium	heart
2	chr1:171122000-171129400	Weak transcription	Adipose Nuclei	Adipose
3	chr1:171126600-171131600	Enhancers	Fetal Intestine Large	intestine
4	chr1:171126800-171131600	Enhancers	Fetal Intestine Small	intestine
5	chr1:171127800-171129800	Enhancers	Liver	Liver
6	chr1:171128800-171130600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:171128800-171130600	Enhancers	Fetal Stomach	stomach
8	chr1:171128800-171131200	Enhancers	Fetal Lung	lung
9	chr1:171129000-171129800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:171129000-171130200	Weak transcription	Small Intestine	intestine
11	chr1:171129000-171130400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:171129000-171130600	Enhancers	Fetal Kidney	kidney
13	chr1:171129000-171130600	Enhancers	Ovary	ovary
14	chr1:171129000-171130600	Enhancers	Stomach Mucosa	stomach
15	chr1:171129000-171137600	Weak transcription	Esophagus	oesophagus
16	chr1:171129200-171130000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:171129200-171130000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:171129200-171130800	Enhancers	HepG2	liver

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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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