Variant report

Variant	rs62321378
Chromosome Location	chr4:107087189-107087190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10489129	0.86[EUR][1000 genomes]
rs11942385	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17036506	0.86[EUR][1000 genomes]
rs17036511	0.86[EUR][1000 genomes]
rs17036530	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17036535	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4264831	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4472215	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4552462	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62318075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62318079	0.88[EUR][1000 genomes]
rs62318080	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62318082	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62318085	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62318087	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs62318088	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs62318089	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62318090	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62318091	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62318092	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62318093	0.88[EUR][1000 genomes]
rs62318116	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62318118	0.88[EUR][1000 genomes]
rs62318124	0.86[EUR][1000 genomes]
rs62318125	0.84[EUR][1000 genomes]
rs62320069	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62320070	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62320112	0.86[EUR][1000 genomes]
rs62320113	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62320115	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62320116	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62320117	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62320120	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62320124	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62320128	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62320129	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62321362	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs62321363	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62321364	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62321366	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62321372	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62321373	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62321374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62321375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62321376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62321377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62321380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62321382	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67566720	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72660519	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72660521	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72660524	0.82[EUR][1000 genomes]
rs72660532	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72675686	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72675692	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72675702	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72677343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72677353	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879701	chr4:107024776-107163128	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv508301	chr4:107049086-107092730	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv1799357	chr4:107058025-107099737	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1801434	chr4:107058025-107099737	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1800933	chr4:107058025-107118662	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1802243	chr4:107058025-107118662	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1802962	chr4:107058025-107118662	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1803376	chr4:107058025-107118662	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1848076	chr4:107058334-107118662	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1851828	chr4:107059549-107118662	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv879702	chr4:107065718-107175191	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv879703	chr4:107082926-107163128	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107038000-107112000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:107053800-107101600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr4:107054000-107091000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:107054000-107113600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:107066400-107151200	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:107071800-107176400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:107074200-107114400	Weak transcription	NHDF-Ad	bronchial
8	chr4:107074600-107111800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:107075200-107091000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:107075800-107114000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:107075800-107118200	Weak transcription	Brain Substantia Nigra	brain
12	chr4:107075800-107129600	Weak transcription	Spleen	Spleen
13	chr4:107076400-107114200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:107077000-107089600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:107078000-107107800	Weak transcription	HSMMtube	muscle
16	chr4:107078200-107116000	Weak transcription	Colonic Mucosa	Colon
17	chr4:107078800-107112200	Weak transcription	Osteobl	bone
18	chr4:107078800-107114200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:107083200-107090400	Weak transcription	Fetal Brain Male	brain
20	chr4:107083200-107173400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:107083800-107114200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:107083800-107134000	Weak transcription	Right Ventricle	heart
23	chr4:107083800-107164800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:107084000-107089800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:107084000-107090400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:107084000-107090600	Weak transcription	Liver	Liver
27	chr4:107084000-107090800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:107084000-107090800	Weak transcription	Ovary	ovary
29	chr4:107084000-107091000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:107084000-107091000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:107084000-107091000	Weak transcription	Adipose Nuclei	Adipose
32	chr4:107084000-107091000	Weak transcription	Brain Germinal Matrix	brain
33	chr4:107084000-107091000	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:107084000-107091000	Weak transcription	Esophagus	oesophagus
35	chr4:107084000-107091000	Weak transcription	Left Ventricle	heart
36	chr4:107084000-107091000	Weak transcription	Pancreas	Pancrea
37	chr4:107084000-107091200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:107084000-107092000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:107084000-107092400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:107084000-107092400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:107084000-107092600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:107084000-107093800	Weak transcription	Fetal Brain Female	brain
43	chr4:107084000-107094000	Weak transcription	Gastric	stomach
44	chr4:107084000-107094200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:107084000-107094400	Weak transcription	Thymus	Thymus
46	chr4:107084000-107094600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:107084000-107108600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:107084000-107112200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:107084000-107116400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:107084000-107129800	Weak transcription	Lung	lung

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