Variant report

Variant	rs7443321
Chromosome Location	chr5:147516323-147516324
allele	C/T
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]
rs1422985	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs1422986	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs17705005	0.80[EUR][1000 genomes]
rs17718511	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs17718737	0.81[CHB][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.80[ASN][1000 genomes]
rs17775739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287774	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs2303069	0.81[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.80[ASN][1000 genomes]
rs3777138	0.81[CHB][hapmap];1.00[GIH][hapmap];0.80[ASN][1000 genomes]
rs4705226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv830515	chr5:147460852-147602247	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147470400-147518400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:147487800-147525800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:147502400-147526000	Weak transcription	Hela-S3	cervix
4	chr5:147507400-147521000	Weak transcription	Esophagus	oesophagus
5	chr5:147509200-147518400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:147512400-147516400	Enhancers	Fetal Intestine Small	intestine
7	chr5:147513600-147517200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:147513600-147522200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:147513600-147526200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:147515200-147525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:147515400-147520800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:147515400-147524400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:147515600-147520800	Weak transcription	Stomach Mucosa	stomach
14	chr5:147515800-147525200	Weak transcription	hESC Derived CD184+ Endoderm 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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