Variant report

Variant	rs243917
Chromosome Location	chr20:13854942-13854943
allele	A/G
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	REST	chr20:13854744-13855759	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
SEL1L2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2094652	1.00[EUR][1000 genomes]
rs2327796	1.00[EUR][1000 genomes]
rs2423754	1.00[EUR][1000 genomes]
rs4239710	1.00[EUR][1000 genomes]
rs4814255	1.00[EUR][1000 genomes]
rs4814257	1.00[EUR][1000 genomes]
rs6033822	1.00[EUR][1000 genomes]
rs6042326	1.00[EUR][1000 genomes]
rs6042334	1.00[EUR][1000 genomes]
rs6074639	1.00[EUR][1000 genomes]
rs6079175	1.00[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	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr20:13847200-13855200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr20:13847200-13855400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr20:13850600-13855000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr20:13850800-13855400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:13851800-13862400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:13854200-13855000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr20:13854200-13857200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:13854400-13855000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:13854400-13855000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr20:13854400-13855000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr20:13854400-13855000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:13854400-13855200	Enhancers	Fetal Intestine Small	intestine
13	chr20:13854400-13855400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:13854400-13855800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr20:13854400-13856200	Enhancers	Ovary	ovary
16	chr20:13854400-13856600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr20:13854400-13856800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:13854400-13857400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr20:13854400-13857400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr20:13854400-13857600	Enhancers	Colon Smooth Muscle	Colon
21	chr20:13854600-13855200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr20:13854600-13855600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:13854600-13855600	Enhancers	Fetal Kidney	kidney
24	chr20:13854600-13855800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr20:13854600-13855800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr20:13854600-13859800	Enhancers	Rectal Smooth Muscle	rectum
27	chr20:13854600-13860000	Enhancers	Fetal Stomach	stomach
28	chr20:13854800-13855000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr20:13854800-13855000	Weak transcription	Right Atrium	heart
30	chr20:13854800-13855200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr20:13854800-13855800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr20:13854800-13856800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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