Variant report

Variant	rs12280157
Chromosome Location	chr11:70843171-70843172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10897639	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897640	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897641	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897642	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11232205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11232208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11232209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11232210	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11232214	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11232217	1.00[EUR][1000 genomes]
rs11232226	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11232227	1.00[EUR][1000 genomes]
rs11232230	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11232298	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11232299	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11232364	1.00[EUR][1000 genomes]
rs12272719	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12276523	1.00[EUR][1000 genomes]
rs12278819	1.00[EUR][1000 genomes]
rs12281887	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12282261	0.88[EUR][1000 genomes]
rs12286150	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287456	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289762	1.00[EUR][1000 genomes]
rs12290753	1.00[EUR][1000 genomes]
rs12290770	1.00[EUR][1000 genomes]
rs12293485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294761	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295668	1.00[EUR][1000 genomes]
rs1336	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57067273	0.88[EUR][1000 genomes]
rs57989516	1.00[EUR][1000 genomes]
rs58061852	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59963161	1.00[EUR][1000 genomes]
rs6591903	1.00[EUR][1000 genomes]
rs7105616	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73523256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73523258	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7941351	1.00[EUR][1000 genomes]
rs7946431	1.00[EUR][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:70800600-70850800	Weak transcription	Right Atrium	heart
2	chr11:70824000-70861600	Weak transcription	A549	lung
3	chr11:70827400-70851200	Weak transcription	Placenta	Placenta
4	chr11:70832200-70843400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:70832200-70843400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:70832200-70848400	Weak transcription	Gastric	stomach
7	chr11:70832200-70860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:70832200-70863600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:70832200-70864400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:70837800-70843400	Strong transcription	Fetal Intestine Small	intestine
11	chr11:70839000-70843800	Enhancers	HSMM	muscle
12	chr11:70839200-70843200	Strong transcription	Liver	Liver
13	chr11:70839200-70845400	Strong transcription	HepG2	liver
14	chr11:70840200-70843800	Enhancers	HSMMtube	muscle
15	chr11:70840400-70843600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr11:70841000-70848600	Weak transcription	Pancreas	Pancrea
17	chr11:70841200-70857400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:70841800-70843600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:70841800-70843600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr11:70841800-70851400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:70842000-70843600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:70842200-70843800	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr11:70842200-70844000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:70842400-70843800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:70842400-70860600	Weak transcription	Fetal Intestine Large	intestine
26	chr11:70842600-70851000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:70842600-70860800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr11:70842800-70843200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:70842800-70843800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:70842800-70843800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:70843000-70843200	Genic enhancers	H1 Cell Line	embryonic stem cell
32	chr11:70843000-70843200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:70843000-70843400	Bivalent Enhancer	Fetal Stomach	stomach
34	chr11:70843000-70843600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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