Variant report

Variant	rs62287405
Chromosome Location	chr4:8491538-8491539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8465664..8467583-chr4:8490405..8491928,2	K562	blood:
2	chr4:8490067..8491985-chr4:8548125..8550420,2	MCF-7	breast:

Extended variants
information (count: 70 )
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]
rs62287402	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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:8475800-8491800	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:8478000-8500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:8478600-8492000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:8479200-8501400	Weak transcription	Liver	Liver
6	chr4:8479800-8494600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:8480000-8493000	Weak transcription	Gastric	stomach
8	chr4:8480200-8498400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:8480200-8501400	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:8480600-8498200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:8480800-8497400	Weak transcription	Spleen	Spleen
12	chr4:8481400-8491800	Weak transcription	Esophagus	oesophagus
13	chr4:8481400-8495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:8481400-8496800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:8481400-8501400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:8481600-8493200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:8481800-8491800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:8481800-8497400	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:8482200-8495000	Weak transcription	Brain Germinal Matrix	brain
20	chr4:8482200-8501400	Weak transcription	Primary T cells from cord blood	blood
21	chr4:8483800-8494400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:8484200-8497000	Weak transcription	Placenta	Placenta
23	chr4:8489000-8492200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:8490400-8492000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:8490600-8492000	Strong transcription	Fetal Stomach	stomach
26	chr4:8491000-8494600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:8491000-8495000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:8491000-8495200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:8491000-8496600	Weak transcription	Lung	lung
30	chr4:8491000-8497600	Weak transcription	Ovary	ovary
31	chr4:8491000-8501400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:8491000-8505200	Weak transcription	Fetal Brain Female	brain
33	chr4:8491200-8494600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:8491200-8495000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:8491200-8495000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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