Variant report

Variant	rs12278678
Chromosome Location	chr11:120481866-120481867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10790388	0.89[EUR][1000 genomes]
rs10892588	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs11600274	0.98[EUR][1000 genomes]
rs11600354	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11600894	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11601552	0.96[EUR][1000 genomes]
rs11602011	0.92[EUR][1000 genomes]
rs11603831	0.84[CEU][hapmap];0.93[EUR][1000 genomes]
rs11604139	0.91[EUR][1000 genomes]
rs11605735	0.96[EUR][1000 genomes]
rs12278532	0.98[EUR][1000 genomes]
rs12281635	0.84[CEU][hapmap];0.84[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12286173	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320721	0.90[ASN][1000 genomes]
rs34759019	0.96[EUR][1000 genomes]
rs34884722	0.96[EUR][1000 genomes]
rs4331108	0.93[EUR][1000 genomes]
rs4590879	1.00[YRI][hapmap]
rs4631889	0.81[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6589821	0.88[EUR][1000 genomes]
rs7111020	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120476400-120482600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:120478200-120482000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr11:120478400-120482400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:120478800-120484400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:120479200-120483600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:120479400-120482200	Enhancers	Fetal Brain Male	brain
7	chr11:120479800-120482200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:120479800-120484000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:120479800-120484800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:120480000-120482200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:120480000-120483400	Weak transcription	Fetal Intestine Large	intestine
12	chr11:120480000-120483400	Weak transcription	Fetal Intestine Small	intestine
13	chr11:120480200-120483400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:120480200-120483400	Weak transcription	Ovary	ovary
15	chr11:120480200-120484600	Weak transcription	Right Atrium	heart
16	chr11:120480200-120487600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:120480200-120489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:120480400-120482600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr11:120480600-120482400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr11:120480800-120482800	Enhancers	Spleen	Spleen
21	chr11:120481200-120483200	Enhancers	GM12878-XiMat	blood
22	chr11:120481400-120482000	Enhancers	HUVEC	blood vessel
23	chr11:120481400-120483400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:120481400-120483600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:120481400-120483600	Weak transcription	Pancreas	Pancrea
26	chr11:120481400-120483600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:120481400-120484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:120481600-120482000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr11:120481600-120482200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:120481600-120482600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:120481600-120483600	Weak transcription	Fetal Stomach	stomach
32	chr11:120481800-120483200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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