Variant report

Variant	rs6884550
Chromosome Location	chr5:17076010-17076011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12187367	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187703	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12187713	0.84[AMR][1000 genomes]
rs2128310	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4702195	0.81[EUR][1000 genomes]
rs62348825	0.80[AMR][1000 genomes]
rs62348833	0.80[AMR][1000 genomes]
rs62350296	0.84[AMR][1000 genomes]
rs62350299	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866807	0.82[EUR][1000 genomes]
rs6870378	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875333	1.00[ASN][1000 genomes]
rs6875641	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734400	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1017222	chr5:17001819-17133274	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1021972	chr5:17011758-17091878	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1026025	chr5:17039665-17195440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1027435	chr5:17068441-17095350	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv969212	chr5:17070735-17098476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17068400-17076400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:17070600-17076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:17070600-17079800	Weak transcription	Gastric	stomach
4	chr5:17070600-17080600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:17074400-17077400	Weak transcription	Ovary	ovary
6	chr5:17075000-17076800	Enhancers	Fetal Kidney	kidney
7	chr5:17075000-17079400	Enhancers	HUVEC	blood vessel
8	chr5:17075400-17077000	Enhancers	NHDF-Ad	bronchial
9	chr5:17075400-17077600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:17075400-17078200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:17075600-17077200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:17075800-17076800	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:17075800-17077400	Weak transcription	Stomach Mucosa	stomach
14	chr5:17075800-17081400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:17076000-17076200	Enhancers	Left Ventricle	heart
16	chr5:17076000-17076400	Enhancers	Fetal Brain Male	brain
17	chr5:17076000-17076800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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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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