Variant report

Variant	rs9472647
Chromosome Location	chr6:45960588-45960589
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12333318	1.00[YRI][hapmap]
rs12333321	1.00[YRI][hapmap]
rs9463157	1.00[YRI][hapmap]
rs9463158	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs9463159	0.81[AFR][1000 genomes]
rs9463160	0.90[AFR][1000 genomes]
rs9463164	1.00[YRI][hapmap]
rs9463166	0.90[AFR][1000 genomes]
rs9472644	1.00[YRI][hapmap]
rs9472654	1.00[YRI][hapmap]
rs9472658	0.90[AFR][1000 genomes]
rs9472659	0.90[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	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv885867	chr6:45936223-45982976	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025846	chr6:45955173-46047269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45952400-45961400	Enhancers	Fetal Heart	heart
2	chr6:45953400-45965600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:45955000-45960800	Enhancers	Right Ventricle	heart
4	chr6:45955800-45962200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:45956800-45969000	Weak transcription	Fetal Intestine Small	intestine
6	chr6:45957000-45961400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:45957000-45966000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:45957000-45969000	Weak transcription	Spleen	Spleen
9	chr6:45957000-45977400	Weak transcription	Fetal Intestine Large	intestine
10	chr6:45959200-45960800	Genic enhancers	Left Ventricle	heart
11	chr6:45960200-45960600	Weak transcription	Psoas Muscle	Psoas
12	chr6:45960400-45965600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:45960400-45970400	Weak transcription	Small Intestine	intestine

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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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