Variant report

Variant	rs12280410
Chromosome Location	chr11:100423278-100423279
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:13)

rs_ID	r²[population]
rs10791419	0.87[ASN][1000 genomes]
rs10791420	0.87[ASN][1000 genomes]
rs11224277	0.87[ASN][1000 genomes]
rs1393353	0.87[ASN][1000 genomes]
rs1393354	0.87[ASN][1000 genomes]
rs4754688	0.87[ASN][1000 genomes]
rs4754690	0.85[ASN][1000 genomes]
rs6590793	0.93[AFR][1000 genomes]
rs6590794	0.86[ASN][1000 genomes]
rs6590795	0.86[ASN][1000 genomes]
rs7102640	0.93[EUR][1000 genomes]
rs962258	0.88[ASN][1000 genomes]
rs962259	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv556122	chr11:99893282-100585889	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1039852	chr11:99901695-100610533	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv541152	chr11:99901695-100610533	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1043022	chr11:100387466-100610533	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100420400-100428200	Enhancers	Brain Germinal Matrix	brain
2	chr11:100421200-100423600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:100421400-100424000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr11:100421400-100424200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:100421600-100423800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:100421600-100424000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr11:100421800-100423800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr11:100422000-100423600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:100422000-100423800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:100422200-100426000	Weak transcription	Brain Anterior Caudate	brain
11	chr11:100422400-100424000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:100422400-100426800	Weak transcription	Fetal Heart	heart
13	chr11:100422400-100431400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:100422800-100423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:100422800-100426400	Weak transcription	Fetal Brain Female	brain
16	chr11:100422800-100428800	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:100423000-100424000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr11:100423200-100423600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:100423200-100423600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr11:100423200-100423600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:100423200-100423600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:100423200-100423600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:100423200-100423800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:100423200-100424000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:100423200-100424000	Enhancers	Fetal Intestine Small	intestine

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