Variant report

Variant	rs74029743
Chromosome Location	chr15:78277438-78277439
allele	C/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	CTCF	chr15:78277360-78277510	HepG2	liver:	n/a	chr15:78277437-78277450
2	POLR2A	chr15:78277398-78277525	Hela-S3	cervix:	n/a	n/a
3	EBF1	chr15:78277259-78277495	GM12878	blood:	n/a	n/a
4	EBF1	chr15:78277258-78277551	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78275921..78279838-chr15:78281220..78285014,4	MCF-7	breast:
2	chr15:78275999..78279475-chr15:78281569..78284408,3	MCF-7	breast:

Variant related genes	Relation type
ADAMTS7P3	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10519182	0.88[EUR][1000 genomes]
rs16969405	0.88[EUR][1000 genomes]
rs16969407	0.88[EUR][1000 genomes]
rs16969408	0.88[EUR][1000 genomes]
rs16969414	0.88[EUR][1000 genomes]
rs1985487	0.88[EUR][1000 genomes]
rs28441175	0.88[EUR][1000 genomes]
rs28451835	0.88[EUR][1000 genomes]
rs28470811	0.88[EUR][1000 genomes]
rs28491609	0.83[EUR][1000 genomes]
rs28526757	0.88[EUR][1000 genomes]
rs28674965	0.88[EUR][1000 genomes]
rs4991997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55663439	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55930913	0.88[EUR][1000 genomes]
rs57949748	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58098690	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58117418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167778	0.88[EUR][1000 genomes]
rs74027705	0.88[EUR][1000 genomes]
rs74027706	0.88[EUR][1000 genomes]
rs74027709	0.88[EUR][1000 genomes]
rs74029754	0.88[EUR][1000 genomes]
rs7495105	0.96[AFR][1000 genomes]
rs7495639	0.88[EUR][1000 genomes]
rs9920647	0.88[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	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78268400-78281800	Weak transcription	Right Atrium	heart
2	chr15:78271800-78282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:78275400-78277800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:78275800-78277600	Enhancers	Esophagus	oesophagus
5	chr15:78275800-78278000	Enhancers	Spleen	Spleen
6	chr15:78276000-78279400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:78276000-78279400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:78276000-78285200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:78276400-78279400	Weak transcription	Fetal Heart	heart
10	chr15:78276400-78279400	Weak transcription	HSMMtube	muscle
11	chr15:78276600-78278600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:78276600-78279400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:78276600-78279400	Weak transcription	HSMM	muscle
14	chr15:78276600-78279600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:78276600-78280000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:78276600-78280800	Weak transcription	Right Ventricle	heart
17	chr15:78276600-78282800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr15:78276800-78277600	Weak transcription	Placenta	Placenta
19	chr15:78276800-78278200	Weak transcription	Fetal Lung	lung
20	chr15:78276800-78279200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:78276800-78279200	Weak transcription	HMEC	breast
22	chr15:78276800-78279400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:78276800-78279400	Weak transcription	Ovary	ovary
24	chr15:78276800-78280000	Weak transcription	Hela-S3	cervix
25	chr15:78276800-78280600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:78277200-78278000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:78277400-78277600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:78277400-78279200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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