Variant report

Variant	rs62287904
Chromosome Location	chr3:158264988-158264989
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	chr3:158263753..158266512-chr3:158362463..158365229,2	K562	blood:
2	chr3:158264437..158266302-chr3:158268722..158271575,2	K562	blood:

Variant related genes	Relation type
ENSG00000168827	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1614241	0.98[ASN][1000 genomes]
rs1656375	0.98[ASN][1000 genomes]
rs16829044	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16829064	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829102	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16829105	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1714522	0.98[ASN][1000 genomes]
rs1978780	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2196357	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55838364	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58157740	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58251618	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60589185	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62287862	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62287863	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62287866	0.96[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62287867	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62287869	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62287870	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62287871	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62287872	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62287885	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62287906	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62287931	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62289511	0.88[AMR][1000 genomes]
rs62289512	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62289513	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62289515	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62289516	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6802223	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6805361	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73877215	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73877220	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820727	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv877690	chr3:158184263-158296916	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2763312	chr3:158193512-158420588	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv916167	chr3:158240540-158320581	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv877691	chr3:158245883-158359667	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv1007699	chr3:158263005-158269833	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158252600-158267400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr3:158256600-158280000	Weak transcription	K562	blood
3	chr3:158257800-158268000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:158258000-158265000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:158258000-158265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:158258000-158268600	Weak transcription	Pancreas	Pancrea
7	chr3:158258200-158268200	Weak transcription	Adipose Nuclei	Adipose
8	chr3:158259600-158267600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr3:158259800-158266000	Weak transcription	NHDF-Ad	bronchial
10	chr3:158259800-158267400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:158259800-158270000	Weak transcription	Ovary	ovary
12	chr3:158260000-158279200	Weak transcription	Left Ventricle	heart
13	chr3:158260400-158270600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:158261200-158266800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:158261400-158265400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:158261800-158265600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:158261800-158266400	Weak transcription	A549	lung
18	chr3:158262400-158269400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:158262600-158265200	Weak transcription	Psoas Muscle	Psoas
20	chr3:158262600-158267600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:158262600-158268200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:158262800-158267200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr3:158263000-158267000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:158263000-158269200	Weak transcription	Liver	Liver
25	chr3:158263600-158267200	Weak transcription	Esophagus	oesophagus
26	chr3:158264200-158266600	Strong transcription	Dnd41	blood
27	chr3:158264200-158267400	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:158264400-158265200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:158264600-158265800	Strong transcription	Primary T cells from cord blood	blood
30	chr3:158264600-158266000	Strong transcription	Primary B cells from cord blood	blood
31	chr3:158264800-158265000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:158264800-158265200	Strong transcription	Aorta	Aorta
33	chr3:158264800-158267000	Enhancers	Fetal Lung	lung

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