Variant report

Variant	rs72772377
Chromosome Location	chr10:5828811-5828812
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:5828269-5829212	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5828547..5830237-chr10:5853768..5856074,2	MCF-7	breast:
2	chr10:5828777..5831652-chr10:5835784..5837888,2	K562	blood:

Variant related genes	Relation type
GDI2	TF binding region
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2669142	0.82[EUR][1000 genomes]
rs41290259	0.82[EUR][1000 genomes]
rs55982328	0.82[EUR][1000 genomes]
rs56254903	0.82[EUR][1000 genomes]
rs60525381	1.00[EUR][1000 genomes]
rs7076064	0.92[EUR][1000 genomes]
rs7076354	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772338	0.82[EUR][1000 genomes]
rs72772339	0.82[EUR][1000 genomes]
rs72772346	1.00[EUR][1000 genomes]
rs72772350	1.00[EUR][1000 genomes]
rs72772365	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772367	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772373	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772378	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772401	1.00[EUR][1000 genomes]
rs72774050	0.82[EUR][1000 genomes]
rs72774053	0.82[EUR][1000 genomes]
rs72774058	0.82[EUR][1000 genomes]
rs72774062	0.82[EUR][1000 genomes]
rs72774079	0.82[EUR][1000 genomes]
rs7915532	1.00[EUR][1000 genomes]
rs7921582	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv515935	chr10:5820394-5869839	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv549896	chr10:5820394-5880066	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5762600-5843400	Strong transcription	Dnd41	blood
2	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:5797400-5847400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr10:5798000-5842800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:5798200-5843000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr10:5798600-5842800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr10:5805000-5843200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:5817200-5831200	Weak transcription	Pancreas	Pancrea
10	chr10:5818000-5854200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:5818400-5842800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr10:5818800-5842600	Strong transcription	Fetal Thymus	thymus
13	chr10:5819600-5844000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:5820200-5833400	Strong transcription	HepG2	liver
15	chr10:5820200-5840400	Strong transcription	HSMM	muscle
16	chr10:5820200-5842800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:5820400-5843000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr10:5820400-5843000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr10:5820600-5842800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:5821200-5832000	Strong transcription	Liver	Liver
21	chr10:5821800-5829400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:5821800-5838800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:5822000-5829400	Strong transcription	Osteobl	bone
24	chr10:5822000-5843800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr10:5822200-5842600	Strong transcription	Primary B cells from peripheral blood	blood
26	chr10:5822200-5843400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr10:5822400-5833400	Strong transcription	K562	blood
28	chr10:5822400-5842600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr10:5822400-5842800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr10:5822600-5842800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:5822600-5842800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:5823400-5829800	Strong transcription	NH-A	brain
33	chr10:5823600-5829000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:5823600-5830200	Strong transcription	A549	lung
35	chr10:5823600-5830800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:5823600-5842600	Strong transcription	Placenta	Placenta
37	chr10:5823800-5829000	Strong transcription	Fetal Kidney	kidney
38	chr10:5823800-5829200	Strong transcription	HUVEC	blood vessel
39	chr10:5823800-5833400	Strong transcription	Left Ventricle	heart
40	chr10:5823800-5842600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr10:5823800-5842600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr10:5823800-5843400	Strong transcription	Thymus	Thymus
43	chr10:5824000-5829400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:5824000-5830000	Strong transcription	Brain Anterior Caudate	brain
45	chr10:5824000-5842600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:5824000-5842600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:5824000-5843400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:5824200-5829200	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr10:5824200-5830000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr10:5824200-5830800	Strong transcription	Primary T cells fromperipheralblood	blood

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