Variant report

Variant	rs1380998
Chromosome Location	chr5:41405529-41405530
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1551574	1.00[JPT][hapmap]
rs2289786	1.00[JPT][hapmap]
rs318035	1.00[JPT][hapmap]
rs318036	1.00[JPT][hapmap]
rs319005	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs319011	1.00[JPT][hapmap]
rs319012	1.00[JPT][hapmap]
rs6451574	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672658	1.00[JPT][hapmap]
rs7715750	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1024631	chr5:41341979-41427953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	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	chr5:41389800-41409000	Weak transcription	Ovary	ovary
2	chr5:41392400-41409400	Weak transcription	Right Ventricle	heart
3	chr5:41392600-41408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:41397600-41406600	Weak transcription	Left Ventricle	heart
5	chr5:41400800-41406200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:41402800-41406000	Enhancers	A549	lung
7	chr5:41404000-41412000	Enhancers	Fetal Heart	heart
8	chr5:41404400-41405800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:41404800-41407200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:41404800-41409800	Enhancers	Fetal Intestine Large	intestine
11	chr5:41405400-41405800	Weak transcription	Fetal Intestine Small	intestine
12	chr5:41405400-41410600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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