Variant report

Variant	rs1388782
Chromosome Location	chr12:40867824-40867825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10878602	0.91[ASN][1000 genomes]
rs10878603	0.91[ASN][1000 genomes]
rs11176655	0.86[ASN][1000 genomes]
rs11564230	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs12581232	0.89[ASN][1000 genomes]
rs1388784	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1444215	0.92[ASN][1000 genomes]
rs2588395	0.94[ASN][1000 genomes]
rs2588414	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2588417	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2638866	0.94[ASN][1000 genomes]
rs2638868	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2638876	0.86[ASN][1000 genomes]
rs2638877	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2638881	0.94[ASN][1000 genomes]
rs2920813	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920832	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933346	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2933353	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2933354	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933364	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2933379	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2933380	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767974	0.85[JPT][hapmap]
rs4767975	0.84[JPT][hapmap]

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	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv1848303	chr12:40867011-40887238	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv1850439	chr12:40867211-40887867	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40866400-40869400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:40866600-40870600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:40867000-40869000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr12:40867200-40868400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:40867200-40870600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:40867400-40868200	Enhancers	Fetal Brain Female	brain
7	chr12:40867400-40870400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:40867600-40868000	Enhancers	Fetal Heart	heart
9	chr12:40867600-40869000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:40867600-40870200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:40867800-40868200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:40867800-40869000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:40867800-40869600	Enhancers	HUES6 Cell Line	embryonic stem cell

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