Variant report

Variant	rs59502099
Chromosome Location	chr4:16272337-16272338
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15963964..15964719-chr4:16272160..16272812,2	MCF-7	breast:
2	chr4:16255755..16258519-chr4:16270641..16272535,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242358	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489057	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721706	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11722358	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722711	0.96[EUR][1000 genomes]
rs11735255	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735313	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736850	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945394	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472572	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893218	0.95[EUR][1000 genomes]
rs16893239	0.98[EUR][1000 genomes]
rs16893257	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893316	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893388	0.96[EUR][1000 genomes]
rs16893404	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893419	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860821	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041540	0.97[EUR][1000 genomes]
rs2072437	0.97[EUR][1000 genomes]
rs28566142	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28650994	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28659920	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41447446	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57653099	0.96[EUR][1000 genomes]
rs57773089	0.96[EUR][1000 genomes]
rs59486353	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60788991	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449231	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67922017	0.95[EUR][1000 genomes]
rs6815561	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830484	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830697	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844412	0.98[EUR][1000 genomes]
rs6846948	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73118069	0.97[EUR][1000 genomes]
rs73118071	0.97[EUR][1000 genomes]
rs73121857	0.97[EUR][1000 genomes]
rs73127513	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127519	0.96[EUR][1000 genomes]
rs73127521	0.96[EUR][1000 genomes]
rs73127531	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127547	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73127555	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73798733	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7660573	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673330	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689789	0.97[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	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16235400-16272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:16258200-16278600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:16270200-16274000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:16270400-16273400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:16270400-16273400	Enhancers	HMEC	breast
6	chr4:16270600-16272800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:16270600-16272800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:16270600-16273800	Weak transcription	Left Ventricle	heart
9	chr4:16270800-16272400	Enhancers	Fetal Muscle Leg	muscle
10	chr4:16270800-16272400	Enhancers	HSMMtube	muscle
11	chr4:16270800-16272600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:16270800-16272600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:16270800-16272600	Enhancers	HSMM	muscle
14	chr4:16270800-16273600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:16271000-16272600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:16271000-16272600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:16271000-16272600	Enhancers	Adipose Nuclei	Adipose
18	chr4:16271000-16272600	Enhancers	NHLF	lung
19	chr4:16271000-16272800	Enhancers	NH-A	brain
20	chr4:16271000-16273000	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:16271200-16272600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:16271200-16273600	Enhancers	Primary B cells from cord blood	blood
23	chr4:16271400-16273600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr4:16271800-16272400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr4:16271800-16272400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:16272000-16272400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:16272000-16272400	Flanking Active TSS	NHDF-Ad	bronchial
28	chr4:16272000-16272600	Flanking Active TSS	NHEK	skin
29	chr4:16272000-16272800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr4:16272000-16272800	Enhancers	Primary B cells from peripheral blood	blood
31	chr4:16272000-16272800	Flanking Active TSS	Osteobl	bone
32	chr4:16272200-16272400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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