Variant report

Variant	rs9685389
Chromosome Location	chr4:144369225-144369226
allele	C/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:23)

rs_ID	r²[population]
rs11725272	0.85[EUR][1000 genomes]
rs11933502	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11945261	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12512923	0.81[EUR][1000 genomes]
rs13112412	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13114896	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1397529	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1397530	0.81[ASN][1000 genomes]
rs17017801	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28776014	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28924075	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28925907	0.81[EUR][1000 genomes]
rs28925924	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28925926	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28925939	0.85[EUR][1000 genomes]
rs35152330	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3795246	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59727559	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833624	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837464	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7696619	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7698825	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9684453	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[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	esv2757960	chr4:144348293-145131592	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	esv2759288	chr4:144348293-145131592	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019980	chr4:144350575-144399936	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144327800-144388200	Weak transcription	HepG2	liver
2	chr4:144336400-144392200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:144339400-144394600	Weak transcription	Colonic Mucosa	Colon
4	chr4:144342000-144382000	Weak transcription	Fetal Kidney	kidney
5	chr4:144347000-144382600	Weak transcription	Gastric	stomach
6	chr4:144352400-144382200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:144353200-144398600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:144353600-144400000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:144355200-144382400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:144355600-144388200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:144356000-144371600	Weak transcription	Fetal Intestine Small	intestine
12	chr4:144358200-144387000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:144358400-144384400	Weak transcription	HSMM	muscle
14	chr4:144359800-144382600	Weak transcription	Esophagus	oesophagus
15	chr4:144360000-144380600	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:144360000-144388400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:144360200-144371600	Weak transcription	Fetal Stomach	stomach
18	chr4:144360200-144380400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:144360200-144382400	Weak transcription	Aorta	Aorta
20	chr4:144360200-144383800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:144360200-144387200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:144360200-144399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:144360600-144376200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:144361600-144376200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:144361600-144390400	Weak transcription	K562	blood
26	chr4:144361800-144381600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:144362000-144372200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:144362000-144373000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:144362000-144375600	Weak transcription	Right Ventricle	heart
30	chr4:144362000-144376400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr4:144362000-144378800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:144362000-144380200	Weak transcription	Adipose Nuclei	Adipose
33	chr4:144362000-144380600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:144362000-144380600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:144362000-144381400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:144362200-144371600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:144362200-144375800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:144362400-144376200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr4:144362600-144375600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:144362600-144376200	Weak transcription	Liver	Liver
41	chr4:144362600-144380800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:144363200-144375600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr4:144363200-144376200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:144363200-144376400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:144363200-144380600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:144363200-144381800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:144363200-144395400	Weak transcription	Spleen	Spleen
48	chr4:144363200-144398600	Weak transcription	Lung	lung
49	chr4:144363400-144380600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:144363600-144371600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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