Variant report

Variant	rs13242947
Chromosome Location	chr7:16778182-16778183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16772079..16775228-chr7:16777244..16779485,3	K562	blood:
2	chr7:16776351..16778265-chr7:16793377..16796196,2	K562	blood:
3	chr7:16777697..16779823-chr7:16785508..16787486,2	K562	blood:
4	chr7:16758741..16761253-chr7:16775515..16778258,2	K562	blood:
5	chr7:16776463..16781643-chr7:16783792..16791142,8	K562	blood:

Variant related genes	Relation type
ENSG00000235837	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10245435	1.00[ASN][1000 genomes]
rs10257861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144626	1.00[ASN][1000 genomes]
rs1144628	1.00[ASN][1000 genomes]
rs1149513	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1167579	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1177544	1.00[ASN][1000 genomes]
rs1626963	1.00[ASN][1000 genomes]
rs17136430	1.00[ASN][1000 genomes]
rs1723807	0.88[AFR][1000 genomes]
rs34385943	1.00[ASN][1000 genomes]
rs34494335	1.00[ASN][1000 genomes]
rs697518	1.00[ASN][1000 genomes]
rs697520	1.00[ASN][1000 genomes]
rs697521	1.00[ASN][1000 genomes]
rs697523	1.00[ASN][1000 genomes]
rs697525	1.00[ASN][1000 genomes]
rs706046	1.00[ASN][1000 genomes]
rs706049	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706050	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71540764	1.00[ASN][1000 genomes]
rs818483	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818486	1.00[ASN][1000 genomes]
rs818493	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818494	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818997	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs819000	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs864211	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv464397	chr7:16709708-16782767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv606338	chr7:16709708-16782767	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16749400-16779000	Weak transcription	Left Ventricle	heart
2	chr7:16759600-16779600	Weak transcription	A549	lung
3	chr7:16771200-16788400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:16774200-16779400	Weak transcription	Hela-S3	cervix
5	chr7:16774400-16779400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:16774800-16779400	Weak transcription	Adipose Nuclei	Adipose
7	chr7:16775400-16779400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:16775400-16779800	Weak transcription	Stomach Mucosa	stomach
9	chr7:16775600-16779000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:16776600-16778200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:16777600-16785000	Enhancers	K562	blood
12	chr7:16777800-16778600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:16777800-16782800	Enhancers	Fetal Intestine Small	intestine
14	chr7:16778000-16778200	Enhancers	Fetal Intestine Large	intestine
15	chr7:16778000-16784200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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