Variant report

Variant	rs11722992
Chromosome Location	chr4:79230779-79230780
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11721837	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11721839	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11724700	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11726717	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11727404	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11727545	0.84[AMR][1000 genomes]
rs11732889	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11934447	0.87[AMR][1000 genomes]
rs1351845	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1351846	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17422620	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17456396	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17457087	1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2061063	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs345523	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs345535	0.95[EUR][1000 genomes]
rs55728531	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58087494	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58917172	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59210732	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59389694	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59810825	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6533573	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6820805	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6823481	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6838168	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72657018	0.84[AMR][1000 genomes]
rs72657038	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72657042	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72657044	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72657046	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72657053	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72657054	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72657056	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7656172	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7664093	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7671142	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7676704	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription 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 miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2763369	chr4:79229435-79232154	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11722992	HNRNPD	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
3	chr4:79215800-79237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
5	chr4:79220400-79246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:79220400-79246600	Weak transcription	HMEC	breast
7	chr4:79220600-79234200	Weak transcription	HSMMtube	muscle
8	chr4:79220600-79241400	Weak transcription	Aorta	Aorta
9	chr4:79220800-79243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:79221000-79237400	Weak transcription	Fetal Heart	heart
11	chr4:79221000-79240000	Weak transcription	Psoas Muscle	Psoas
12	chr4:79221200-79231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:79221200-79232600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr4:79227000-79241400	Weak transcription	Left Ventricle	heart
16	chr4:79229000-79231000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:79229000-79232000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:79229000-79233200	Strong transcription	HepG2	liver
19	chr4:79229200-79230800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:79229200-79231200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:79229200-79233200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:79229400-79231800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:79229400-79241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:79229400-79241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:79229600-79231800	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr4:79229600-79232400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:79229800-79230800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:79229800-79231800	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:79229800-79236400	Weak transcription	Fetal Intestine Small	intestine
30	chr4:79229800-79237600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:79229800-79257600	Weak transcription	Fetal Stomach	stomach
32	chr4:79230000-79231200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:79230000-79231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:79230000-79231600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:79230000-79231800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:79230000-79232400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:79230000-79239600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:79230200-79231800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:79230200-79232400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
41	chr4:79230400-79236800	Weak transcription	Fetal Lung	lung
42	chr4:79230400-79237000	Weak transcription	Fetal Kidney	kidney
43	chr4:79230600-79258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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