Variant report

Variant	rs71518852
Chromosome Location	chr8:103291970-103291971
allele	A/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	POU2F2	chr8:103291735-103292118	GM12878	blood:	n/a	chr8:103291902-103291913 chr8:103291898-103291916 chr8:103291902-103291912 chr8:103291902-103291913
2	POLR2A	chr8:103291766-103292331	K562	blood:	n/a	n/a
3	SPI1	chr8:103291704-103292014	GM12891	blood:	n/a	chr8:103291858-103291867
4	SPI1	chr8:103291692-103292043	GM12891	blood:	n/a	chr8:103291858-103291867
5	SPI1	chr8:103291717-103292006	GM12878	blood:	n/a	chr8:103291858-103291867
6	SPI1	chr8:103291436-103292273	GM12878	blood:	n/a	chr8:103291533-103291546 chr8:103291858-103291867
7	POLR2A	chr8:103291819-103292061	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103278172..103280561-chr8:103289882..103292215,2	K562	blood:
2	chr8:103284320..103287670-chr8:103290492..103293521,4	K562	blood:
3	chr8:103284508..103286250-chr8:103289616..103292158,2	MCF-7	breast:
4	chr8:103277470..103279988-chr8:103291170..103293860,2	MCF-7	breast:
5	chr8:103281266..103283853-chr8:103291011..103293055,2	MCF-7	breast:
6	chr8:103289581..103292045-chr8:103294238..103296259,2	MCF-7	breast:
7	chr8:103283611..103286055-chr8:103291740..103293401,2	K562	blood:
8	chr8:103291666..103293450-chr8:103303499..103306478,2	MCF-7	breast:
9	chr8:103291796..103293789-chr8:103308408..103310782,2	MCF-7	breast:

Variant related genes	Relation type
UBR5	TF binding region
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10505020	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12707772	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13248603	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13249865	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13250998	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13259151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261528	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13262662	0.95[EUR][1000 genomes]
rs13263132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13269311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270908	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13278798	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13278875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2061299	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927991	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28999669	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34270914	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34278087	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34279135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34297513	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34351006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34356268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34730203	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34976508	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35166521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35316247	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35558370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35818724	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35873559	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35969173	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35980679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36178006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4483125	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56003023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59572423	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71518861	0.87[EUR][1000 genomes]
rs71518862	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7845877	0.88[EUR][1000 genomes]
rs9650000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650002	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103252200-103292800	Weak transcription	Gastric	stomach
2	chr8:103252200-103318800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:103252400-103292400	Weak transcription	Psoas Muscle	Psoas
4	chr8:103256000-103299000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr8:103256000-103299000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:103256000-103299600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:103256200-103299600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr8:103257400-103299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:103262400-103299400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:103262600-103299600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:103262800-103296000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:103262800-103299600	Strong transcription	HSMM	muscle
14	chr8:103263000-103294000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:103263000-103299000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:103263000-103299000	Strong transcription	Liver	Liver
17	chr8:103263000-103299000	Strong transcription	Fetal Thymus	thymus
18	chr8:103263200-103292800	Strong transcription	Placenta	Placenta
19	chr8:103263200-103298800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:103263400-103295600	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr8:103263400-103298200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:103263400-103299000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:103263400-103299000	Strong transcription	Dnd41	blood
24	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:103264000-103299000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:103264200-103299000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:103264800-103298800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr8:103266200-103299400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:103268000-103327200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr8:103268200-103298400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:103268800-103308400	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:103269400-103293800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr8:103269400-103299200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:103270200-103292800	Weak transcription	Fetal Heart	heart
42	chr8:103270200-103293800	Strong transcription	A549	lung
43	chr8:103271800-103294400	Strong transcription	Left Ventricle	heart
44	chr8:103272800-103297000	Weak transcription	Small Intestine	intestine
45	chr8:103275800-103294600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:103275800-103299600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:103277200-103294200	Strong transcription	K562	blood
48	chr8:103277400-103293000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:103279600-103297000	Weak transcription	Esophagus	oesophagus
50	chr8:103280600-103292800	Weak transcription	Aorta	Aorta

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