Variant report

Variant	rs2693736
Chromosome Location	chr7:129427009-129427010
allele	A/G
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	YY1	chr7:129426618-129427141	H1-hESC	embryonic stem cell:	n/a	n/a
2	TBP	chr7:129426916-129427077	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:129426606-129427055	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTBP2	chr7:129426667-129427205	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:129426914-129427114	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr7:129426927-129427196	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr7:129426971-129427099	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr7:129426853-129427165	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF143	chr7:129426839-129427180	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr7:129426710-129427325	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr7:129426642-129427206	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF7L2	chr7:129426613-129427151	HCT-116	colon:	n/a	n/a
13	POLR2A	chr7:129426649-129427009	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000242078	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2693731	1.00[AMR][1000 genomes]
rs2693735	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2693737	0.90[AFR][1000 genomes]
rs2727473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
2	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv464721	chr7:129397644-129444951	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
4	nsv608420	chr7:129397644-129444951	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
5	esv1828133	chr7:129403541-129437113	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
6	esv1843969	chr7:129403541-129446598	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
7	esv1802311	chr7:129406936-129442389	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129421200-129427400	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr7:129424200-129427400	Bivalent Enhancer	Fetal Thymus	thymus
3	chr7:129425400-129433600	Weak transcription	K562	blood
4	chr7:129425600-129427600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:129425800-129427400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:129426000-129427600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr7:129426200-129427200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:129426800-129427400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr7:129426800-129427400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:129426800-129427600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr7:129427000-129427200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr7:129427000-129427200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr7:129427000-129427200	Bivalent Enhancer	Fetal Intestine Small	intestine
14	chr7:129427000-129427200	Enhancers	Gastric	stomach
15	chr7:129427000-129427400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr7:129427000-129427400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr7:129427000-129427400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
18	chr7:129427000-129427400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:129427000-129427600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:129427000-129427600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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