Variant report

Variant	rs1385130
Chromosome Location	chr4:79293127-79293128
allele	C/T
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:16)

rs_ID	r²[population]
rs11936250	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945678	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13117116	0.91[ASN][1000 genomes]
rs17003169	0.81[ASN][1000 genomes]
rs2008485	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054719	0.81[ASN][1000 genomes]
rs2100484	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124142	1.00[ASN][1000 genomes]
rs55763205	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56035063	0.97[ASN][1000 genomes]
rs56242523	0.81[ASN][1000 genomes]
rs56259967	0.97[ASN][1000 genomes]
rs6814410	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833805	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6835769	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72657073	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
2	chr4:79282800-79295000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
4	chr4:79284800-79293400	Weak transcription	Fetal Intestine Large	intestine
5	chr4:79285600-79296600	Weak transcription	Fetal Stomach	stomach
6	chr4:79288000-79318400	Weak transcription	Pancreas	Pancrea
7	chr4:79288200-79300200	Weak transcription	HSMMtube	muscle
8	chr4:79288400-79300200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:79290200-79310800	Weak transcription	Brain Anterior Caudate	brain
10	chr4:79290400-79297200	Strong transcription	HepG2	liver
11	chr4:79291000-79295000	Weak transcription	Fetal Brain Male	brain
12	chr4:79291200-79308400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:79291200-79314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:79291800-79293400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:79291800-79295000	Weak transcription	Fetal Kidney	kidney
16	chr4:79291800-79296600	Weak transcription	Fetal Intestine Small	intestine
17	chr4:79291800-79300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:79291800-79301400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:79291800-79306400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:79291800-79307200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:79291800-79318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:79292000-79295400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:79292000-79300000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:79292000-79300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:79292000-79312000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr4:79292200-79293200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:79292200-79293200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:79292200-79293400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:79292200-79293800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:79292200-79295000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:79292200-79301000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:79292200-79306600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:79292200-79308400	Weak transcription	Fetal Lung	lung
34	chr4:79292200-79312200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:79292400-79297600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:79292400-79310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:79292400-79312000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:79292600-79300400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:79292600-79301200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr4:79292800-79294000	Enhancers	Psoas Muscle	Psoas
41	chr4:79292800-79294400	Enhancers	Esophagus	oesophagus
42	chr4:79292800-79295600	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr4:79292800-79295800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr4:79293000-79300200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:79293000-79300400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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