Variant report

Variant	rs62287402
Chromosome Location	chr4:8489034-8489035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1060617	0.80[EUR][1000 genomes]
rs1106591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13434465	0.91[AMR][1000 genomes]
rs16842352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17194220	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17201848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17202499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17203215	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17203243	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17806817	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17806883	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17807929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17807994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28507650	0.80[EUR][1000 genomes]
rs28664136	0.80[EUR][1000 genomes]
rs61739067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286002	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286003	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286005	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286035	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286036	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286037	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286038	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286040	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286041	0.80[EUR][1000 genomes]
rs62286042	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286043	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286044	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62286047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62286058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62286059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287391	1.00[AFR][1000 genomes]
rs62287392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287394	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62287396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287406	1.00[EUR][1000 genomes]
rs62287433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287435	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62287436	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62287439	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287440	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62287441	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7686109	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs940132	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:8475600-8491400	Weak transcription	Aorta	Aorta
3	chr4:8475800-8491800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:8478000-8500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:8478200-8491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:8478600-8490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:8478600-8492000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:8479200-8501400	Weak transcription	Liver	Liver
9	chr4:8479400-8491200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:8479600-8490800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:8479600-8490800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:8479800-8494600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:8480000-8493000	Weak transcription	Gastric	stomach
14	chr4:8480200-8498400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:8480200-8501400	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:8480600-8498200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr4:8480800-8497400	Weak transcription	Spleen	Spleen
18	chr4:8481400-8490400	Weak transcription	Fetal Brain Female	brain
19	chr4:8481400-8490400	Weak transcription	Lung	lung
20	chr4:8481400-8490400	Weak transcription	Ovary	ovary
21	chr4:8481400-8491800	Weak transcription	Esophagus	oesophagus
22	chr4:8481400-8495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:8481400-8496800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr4:8481400-8501400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:8481600-8493200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:8481800-8490600	Weak transcription	Fetal Stomach	stomach
27	chr4:8481800-8491800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr4:8481800-8497400	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:8482200-8495000	Weak transcription	Brain Germinal Matrix	brain
30	chr4:8482200-8501400	Weak transcription	Primary T cells from cord blood	blood
31	chr4:8483800-8494400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:8484200-8497000	Weak transcription	Placenta	Placenta
33	chr4:8488000-8490800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:8488400-8489200	Enhancers	K562	blood
35	chr4:8488800-8490400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:8489000-8492200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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