Variant report

Variant	rs62285911
Chromosome Location	chr3:151117478-151117479
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:151115355..151117681-chr3:151126429..151128224,2	K562	blood:
2	chr3:151108148..151109931-chr3:151116906..151118907,2	MCF-7	breast:
3	chr3:151105298..151107516-chr3:151116586..151118141,2	K562	blood:
4	chr3:151114494..151116780-chr3:151117358..151119527,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16863344	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16863350	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16863352	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16863356	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16863359	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16863361	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16863376	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2276762	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276763	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3732767	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821662	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41366744	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285879	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62285880	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62285881	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs62285884	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62285885	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62285886	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62285907	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285910	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285912	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285913	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285915	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285917	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62285919	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62285920	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62285922	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6765412	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634096	0.94[ASN][1000 genomes]
rs7637803	0.95[ASN][1000 genomes]
rs7646193	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[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	nsv829757	chr3:151044880-151226442	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1000355	chr3:151108859-151243835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv995048	chr3:151114074-151560019	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	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	chr3:151069400-151129800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:151075600-151136400	Weak transcription	Fetal Brain Female	brain
3	chr3:151090200-151142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:151096000-151129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:151098800-151143400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:151102200-151148600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:151102600-151132000	Weak transcription	Brain Angular Gyrus	brain
8	chr3:151102800-151136400	Weak transcription	Brain Substantia Nigra	brain
9	chr3:151102800-151150600	Weak transcription	Brain Anterior Caudate	brain
10	chr3:151104200-151139600	Weak transcription	Dnd41	blood
11	chr3:151106000-151130800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:151106000-151134200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:151106000-151154600	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:151106200-151122000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:151106200-151128000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:151106200-151131200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:151106400-151121400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:151106400-151121400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:151112800-151143400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:151113000-151118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:151113200-151142600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:151113400-151143600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:151114000-151120200	Weak transcription	NHLF	lung
24	chr3:151114200-151118200	Weak transcription	NHEK	skin
25	chr3:151114200-151120200	Weak transcription	HMEC	breast
26	chr3:151116000-151118400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr3:151116000-151128400	Weak transcription	Placenta	Placenta
28	chr3:151116400-151118000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr3:151116600-151119000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:151116800-151117800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:151116800-151118400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:151116800-151118400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:151116800-151125600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:151117000-151117600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:151117200-151117600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:151117200-151117800	Enhancers	Monocytes-CD14+_RO01746	blood

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