Variant report

Variant	rs39308
Chromosome Location	chr7:116951671-116951672
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116938981..116940552-chr7:116950596..116953276,2	K562	blood:
2	7:115847372-115857098..7:116949919-116957096	GM12878	blood:
3	7:116434729-116454408..7:116949919-116957096	H1-hESC	embryonic stem cell:	embryo
4	chr7:116950227..116952723-chr7:116968350..116970678,2	K562	blood:
5	7:115861595-115870968..7:116949919-116957096	Hela-S3	cervix:
6	7:116604327-116608063..7:116949919-116957096	H1-hESC	embryonic stem cell:	embryo
7	7:115890993-115892266..7:116949919-116957096	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000228368	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10230259	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237017	1.00[ASN][1000 genomes]
rs10242827	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1025342	1.00[ASN][1000 genomes]
rs10255092	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258791	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264450	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278953	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487364	1.00[ASN][1000 genomes]
rs12536356	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17139821	1.00[ASN][1000 genomes]
rs17450482	1.00[ASN][1000 genomes]
rs17544734	1.00[ASN][1000 genomes]
rs17545644	1.00[ASN][1000 genomes]
rs17547485	1.00[ASN][1000 genomes]
rs177071	1.00[ASN][1000 genomes]
rs1800503	1.00[ASN][1000 genomes]
rs2518872	1.00[ASN][1000 genomes]
rs254537	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs254538	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34268361	1.00[ASN][1000 genomes]
rs34420782	1.00[ASN][1000 genomes]
rs34654194	1.00[ASN][1000 genomes]
rs35003065	1.00[ASN][1000 genomes]
rs35130797	1.00[ASN][1000 genomes]
rs35415299	1.00[ASN][1000 genomes]
rs35715578	1.00[ASN][1000 genomes]
rs35820454	1.00[ASN][1000 genomes]
rs35987553	1.00[ASN][1000 genomes]
rs36082161	1.00[ASN][1000 genomes]
rs39309	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39310	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39311	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39314	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39320	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39321	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39322	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39325	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4285411	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466610	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6943509	1.00[ASN][1000 genomes]
rs6961545	1.00[ASN][1000 genomes]
rs6963669	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73480763	1.00[ASN][1000 genomes]
rs7779160	0.89[EUR][1000 genomes]
rs7795896	1.00[ASN][1000 genomes]
rs7802924	1.00[ASN][1000 genomes]
rs916727	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs916728	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886209	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv608256	chr7:116928371-117040117	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116931800-116961600	Weak transcription	Placenta	Placenta
2	chr7:116936400-116952200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:116937000-116954800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:116945200-116954400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:116946800-116951800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:116946800-116951800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:116950200-116952600	Genic enhancers	Fetal Lung	lung
8	chr7:116951000-116951800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:116951200-116951800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:116951600-116951800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:116951600-116952200	Enhancers	HUES48 Cell Line	embryonic stem cell

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