Variant report

Variant	rs12290770
Chromosome Location	chr11:70862992-70862993
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	GATA3	chr11:70862797-70863162	SH-SY5Y	brain:	n/a	n/a
2	GATA2	chr11:70862396-70863284	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:70862325..70865050-chr11:70958475..70960987,2	MCF-7	breast:

Variant related genes	Relation type
SHANK2	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10751032	1.00[ASN][1000 genomes]
rs10897639	1.00[EUR][1000 genomes]
rs10897640	1.00[EUR][1000 genomes]
rs10897641	1.00[EUR][1000 genomes]
rs10897642	0.94[EUR][1000 genomes]
rs11232205	1.00[EUR][1000 genomes]
rs11232208	1.00[EUR][1000 genomes]
rs11232209	1.00[EUR][1000 genomes]
rs11232210	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232214	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232226	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232230	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11232298	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11232299	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11232364	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12272719	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12276523	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12280157	1.00[EUR][1000 genomes]
rs12281887	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12282261	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12286150	1.00[EUR][1000 genomes]
rs12287456	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12289762	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293485	0.88[EUR][1000 genomes]
rs12294761	1.00[EUR][1000 genomes]
rs12295668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56997079	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57067273	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57989516	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59963161	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591903	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105616	1.00[EUR][1000 genomes]
rs73523256	1.00[EUR][1000 genomes]
rs73523258	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73523260	0.85[AMR][1000 genomes]
rs7941351	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 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	chr11:70832200-70863600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:70832200-70864400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:70858200-70891000	Weak transcription	Gastric	stomach
4	chr11:70858400-70863600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:70858600-70865400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:70860600-70864400	Weak transcription	Fetal Kidney	kidney
7	chr11:70861400-70863600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:70861800-70863600	Enhancers	Pancreas	Pancrea
9	chr11:70862000-70863400	Weak transcription	A549	lung
10	chr11:70862200-70863000	Strong transcription	Fetal Intestine Small	intestine
11	chr11:70862600-70863000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:70862600-70863000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:70862600-70863400	Enhancers	HepG2	liver
14	chr11:70862600-70864200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:70862800-70863600	Enhancers	Liver	Liver

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