Variant report

Variant	rs60751124
Chromosome Location	chr4:89934939-89934940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10516826	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1513820	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17015025	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17768752	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17769356	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17770293	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17819929	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17820320	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1921680	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175821	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280099	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2869974	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822085	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5026462	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55885459	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55987745	0.81[ASN][1000 genomes]
rs55996516	0.84[AMR][1000 genomes]
rs56038841	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56165603	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56672432	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56719325	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59188553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59283403	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59586695	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60213126	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60591238	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62306393	0.84[ASN][1000 genomes]
rs6822256	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665841	0.82[EUR][1000 genomes]
rs72665855	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665868	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72665882	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665892	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72665898	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72665902	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72668111	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72668112	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72668120	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72668125	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72668127	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72668130	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72668134	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72668135	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72668138	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72668144	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72668152	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72668154	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72668156	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72668157	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72668165	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72668167	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72668171	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72668179	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72668183	0.84[AMR][1000 genomes]
rs7660709	0.83[ASN][1000 genomes]
rs7669140	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7689498	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8582	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89903000-89957200	Weak transcription	HSMM	muscle
2	chr4:89903400-89936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:89912200-89935800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:89912200-89943800	Weak transcription	Psoas Muscle	Psoas
5	chr4:89913400-89944000	Weak transcription	Gastric	stomach
6	chr4:89920400-89937000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:89921000-89950600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:89922400-89936000	Weak transcription	Adipose Nuclei	Adipose
9	chr4:89922600-89935000	Weak transcription	Placenta	Placenta
10	chr4:89922600-89936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:89922600-89949800	Weak transcription	HMEC	breast
12	chr4:89922800-89935800	Weak transcription	HUVEC	blood vessel
13	chr4:89922800-89945600	Weak transcription	A549	lung
14	chr4:89923000-89935000	Weak transcription	Fetal Kidney	kidney
15	chr4:89923400-89939400	Weak transcription	Primary T cells from cord blood	blood
16	chr4:89923600-89945600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:89923800-89936000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:89923800-89936000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:89923800-89937000	Weak transcription	Fetal Heart	heart
20	chr4:89923800-89943800	Weak transcription	Right Atrium	heart
21	chr4:89923800-89944400	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:89925400-89937000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:89925600-89939400	Weak transcription	Aorta	Aorta
24	chr4:89926000-89936000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:89926200-89936400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:89926400-89949600	Weak transcription	Left Ventricle	heart
27	chr4:89926600-89941000	Weak transcription	Esophagus	oesophagus
28	chr4:89926800-89935200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:89926800-89951400	Weak transcription	Right Ventricle	heart
30	chr4:89928000-89935000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:89928200-89936000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:89928400-89936400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:89928400-89940000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:89928600-89935000	Weak transcription	Ovary	ovary
35	chr4:89928600-89937800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:89928600-89941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:89928800-89936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:89928800-89939200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:89929000-89935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:89929200-89939400	Weak transcription	HSMMtube	muscle
41	chr4:89929800-89935000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:89929800-89935000	Weak transcription	Fetal Stomach	stomach
43	chr4:89930000-89942600	Weak transcription	Brain Anterior Caudate	brain
44	chr4:89931200-89944000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:89931400-89936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:89931600-89943600	Weak transcription	Small Intestine	intestine
47	chr4:89931600-89945400	Weak transcription	Liver	Liver
48	chr4:89931800-89936400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr4:89931800-89939400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:89932000-89935000	Weak transcription	Duodenum Mucosa	Duodenum

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