Variant report

Variant	rs72948648
Chromosome Location	chr6:114297837-114297838
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114296445..114297947-chr6:114301114..114303328,2	MCF-7	breast:
2	chr6:114295116..114298801-chr6:114302591..114304550,3	K562	blood:
3	chr6:114291669..114294089-chr6:114295147..114298600,3	K562	blood:
4	chr6:114295116..114299267-chr6:114302735..114304550,3	K562	blood:
5	chr6:114291358..114292973-chr6:114297790..114299318,2	MCF-7	breast:
6	chr6:114290174..114293671-chr6:114294895..114298600,4	K562	blood:
7	chr6:114287247..114289431-chr6:114295805..114297955,2	K562	blood:
8	chr6:114293750..114295471-chr6:114297278..114299173,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HS3ST5-4	chr6:114295876-114298201	ucscGeneNc_uc003pwa_2

No data

No data

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10499079	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12201804	1.00[AFR][1000 genomes]
rs17792616	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62418080	1.00[AFR][1000 genomes]
rs7740444	1.00[AFR][1000 genomes]
rs7748055	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv520419	chr6:114285253-114306614	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114293400-114298400	Weak transcription	Pancreas	Pancrea
2	chr6:114293400-114299400	Weak transcription	Osteobl	bone
3	chr6:114293400-114300600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:114293400-114301000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:114296400-114302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:114296800-114299400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:114297200-114298000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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