Variant report

Variant	rs6534248
Chromosome Location	chr4:121995198-121995199
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr4:121994835-121995282	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr4:121995080-121995230	Caco-2	colon:	n/a	n/a
3	RAD21	chr4:121994928-121995246	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr4:121994855-121995405	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr4:121994958-121995208	H1-hESC	embryonic stem cell:	n/a	n/a
6	RCOR1	chr4:121995114-121995271	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
NDNF	TF binding region

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

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

rs_ID	r²[population]
rs16997649	1.00[EUR][1000 genomes]
rs28695527	1.00[EUR][1000 genomes]
rs6534252	1.00[AMR][1000 genomes]
rs6832652	1.00[EUR][1000 genomes]
rs6832737	1.00[EUR][1000 genomes]
rs72911696	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121993400-121995600	Active TSS	Fetal Intestine Large	intestine
2	chr4:121994200-121996200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr4:121994400-121995200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:121994400-121995200	Active TSS	Colonic Mucosa	Colon
5	chr4:121994400-121998800	Weak transcription	Pancreas	Pancrea
6	chr4:121994600-121995200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:121994600-121995200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr4:121994600-121995200	Flanking Active TSS	Fetal Lung	lung
9	chr4:121994600-121995400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr4:121994600-121995600	Enhancers	Fetal Intestine Small	intestine
11	chr4:121994600-121996000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr4:121994600-121996000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:121994800-121995200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr4:121994800-121995400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr4:121994800-121995600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:121994800-121995800	Bivalent Enhancer	Stomach Mucosa	stomach
17	chr4:121995000-121995200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr4:121995000-121995200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
19	chr4:121995000-121995200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr4:121995000-121995400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:121995000-121995600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:121995000-121995600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr4:121995000-121995800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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