Variant report

Variant	rs2245956
Chromosome Location	chr4:15939686-15939687
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12503796	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2245964	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs2284320	0.95[CHB][hapmap]
rs2531139	0.80[ASN][1000 genomes]
rs2531142	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2531144	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2531145	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2532095	0.89[ASN][1000 genomes]
rs732244	0.81[ASN][1000 genomes]
rs732245	0.81[ASN][1000 genomes]
rs876320	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv878715	chr4:15840839-15947493	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv878716	chr4:15911031-15947493	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv878717	chr4:15920423-15950731	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv593769	chr4:15921471-15943140	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv878718	chr4:15925170-15947493	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	n/a
8	nsv878719	chr4:15930961-15947493	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15936200-15939800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:15936200-15939800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:15936200-15939800	Transcr. at gene 5' and 3'	NHEK	skin
4	chr4:15937800-15939800	Active TSS	Esophagus	oesophagus
5	chr4:15938200-15940200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:15938200-15941600	Weak transcription	Right Atrium	heart
7	chr4:15938600-15940000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:15939200-15940400	Enhancers	Stomach Mucosa	stomach
9	chr4:15939400-15939800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:15939600-15939800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:15939600-15939800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr4:15939600-15939800	Enhancers	A549	lung
13	chr4:15939600-15939800	Flanking Active TSS	HMEC	breast
14	chr4:15939600-15940000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:15939600-15940000	Active TSS	Colonic Mucosa	Colon
16	chr4:15939600-15940000	Enhancers	Duodenum Mucosa	Duodenum
17	chr4:15939600-15940000	Weak transcription	Fetal Intestine Large	intestine
18	chr4:15939600-15940000	Enhancers	Fetal Intestine Small	intestine
19	chr4:15939600-15940000	Flanking Active TSS	Hela-S3	cervix
20	chr4:15939600-15940200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:15939600-15940200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:15939600-15940400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:15939600-15940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:15939600-15940400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:15939600-15940600	Enhancers	HUES6 Cell Line	embryonic stem cell

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