Variant report

Variant	rs6678957
Chromosome Location	chr1:48017026-48017027
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11802608	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808094	1.00[EUR][1000 genomes]
rs1567309	1.00[EUR][1000 genomes]
rs6670118	1.00[EUR][1000 genomes]
rs6675052	1.00[EUR][1000 genomes]
rs6681218	1.00[EUR][1000 genomes]
rs6688084	1.00[EUR][1000 genomes]
rs74069524	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:48008400-48019600	Weak transcription	Pancreas	Pancrea
2	chr1:48013800-48017200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:48014200-48021000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:48015200-48021200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:48015400-48018000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:48015800-48020000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:48015800-48021200	Weak transcription	Spleen	Spleen
8	chr1:48016200-48017400	Enhancers	Fetal Kidney	kidney
9	chr1:48016400-48017200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:48016600-48017200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:48016600-48017200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr1:48016800-48017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:48017000-48017200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:48017000-48017200	Enhancers	Gastric	stomach
15	chr1:48017000-48017200	Flanking Active TSS	Stomach Mucosa	stomach
16	chr1:48017000-48017400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:48017000-48017400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:48017000-48019800	Enhancers	Fetal Intestine Large	intestine
19	chr1:48017000-48024200	Enhancers	Fetal Intestine Small	intestine

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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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