Variant report

Variant	rs4500055
Chromosome Location	chr8:95836812-95836813
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95835037-95836927	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr8:95836758-95837008	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr8:95836775-95837027	K562	blood:	n/a	n/a
4	POLR2A	chr8:95835973-95836866	K562	blood:	n/a	n/a
5	MXI1	chr8:95836567-95836875	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:95834802-95836879	K562	blood:	n/a	n/a
7	POLR2A	chr8:95836799-95836856	HUVEC	blood vessel:	n/a	n/a
8	MXI1	chr8:95834441-95837020	SK-N-SH	brain:	n/a	n/a
9	FOS	chr8:95836787-95837008	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95835762..95837523-chr8:95870146..95872501,2	K562	blood:
2	chr8:95835209..95837028-chr8:96037260..96039348,2	MCF-7	breast:
3	chr8:95834207..95836973-chr8:95878829..95880737,2	MCF-7	breast:
4	chr8:95834990..95838474-chr8:95840154..95845395,5	K562	blood:
5	chr8:95728931..95732611-chr8:95833805..95837140,4	MCF-7	breast:
6	chr8:95729194..95732045-chr8:95835297..95837724,2	MCF-7	breast:
7	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
8	chr8:95825181..95829614-chr8:95834341..95841614,7	MCF-7	breast:
9	chr8:95836017..95837740-chr8:95890553..95892391,2	MCF-7	breast:
10	chr8:95824061..95826384-chr8:95834647..95837331,2	MCF-7	breast:
11	chr8:95835151..95838228-chr8:96036599..96039705,3	K562	blood:
12	chr8:95835610..95837975-chr8:95846704..95848359,2	K562	blood:
13	chr8:95833831..95839966-chr8:95906478..95910674,7	K562	blood:
14	chr8:95730539..95733622-chr8:95834206..95838888,6	K562	blood:
15	chr8:95835507..95837268-chr8:96280531..96283343,2	MCF-7	breast:
16	chr8:95652142..95654466-chr8:95834020..95837000,3	MCF-7	breast:
17	chr8:95652979..95654493-chr8:95835871..95837977,2	MCF-7	breast:

No data

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000156162	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10096090	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10098563	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10100651	0.86[ASN][1000 genomes]
rs10112232	0.87[CEU][hapmap];0.88[YRI][hapmap];0.92[ASN][1000 genomes]
rs10441538	0.96[CEU][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1129152	0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11996455	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12155666	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12545815	0.90[ASN][1000 genomes]
rs12548874	0.82[EUR][1000 genomes]
rs12679044	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs13271375	1.00[CEU][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13271644	0.95[CEU][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779789	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073755	0.90[ASN][1000 genomes]
rs4075835	0.87[CEU][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734285	0.86[ASN][1000 genomes]
rs6991067	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7002058	0.95[CEU][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7004862	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs713113	0.96[CEU][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7817862	0.93[ASN][1000 genomes]
rs9643349	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9650133	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4500055	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95834600-95837000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:95834600-95837000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:95834600-95837000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:95834600-95837200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:95834600-95837200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:95834800-95837000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:95834800-95837000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:95834800-95837000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:95834800-95837000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:95834800-95837000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:95834800-95837000	Active TSS	Colonic Mucosa	Colon
12	chr8:95834800-95837200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:95834800-95837200	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:95834800-95837200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:95834800-95837200	Active TSS	Right Atrium	heart
16	chr8:95834800-95837200	Active TSS	Thymus	Thymus
17	chr8:95834800-95837200	Active TSS	GM12878-XiMat	blood
18	chr8:95834800-95837200	Active TSS	K562	blood
19	chr8:95834800-95837400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:95834800-95837400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr8:95834800-95837400	Active TSS	NHLF	lung
22	chr8:95834800-95838000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:95835000-95837000	Active TSS	Placenta	Placenta
24	chr8:95835800-95837000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr8:95836000-95837000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr8:95836000-95837000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr8:95836000-95837000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr8:95836000-95837000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:95836000-95837200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr8:95836000-95837200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:95836000-95837400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr8:95836200-95837000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:95836200-95837000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr8:95836200-95837000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr8:95836200-95837000	Flanking Active TSS	Dnd41	blood
36	chr8:95836200-95837000	Flanking Active TSS	Osteobl	bone
37	chr8:95836200-95837400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:95836200-95837400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr8:95836200-95837600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:95836200-95837600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:95836200-95840800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:95836200-95840800	Weak transcription	Esophagus	oesophagus
43	chr8:95836200-95840800	Weak transcription	Gastric	stomach
44	chr8:95836200-95841200	Weak transcription	Spleen	Spleen
45	chr8:95836200-95841600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:95836200-95846000	Weak transcription	Lung	lung
47	chr8:95836400-95837000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:95836400-95837000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr8:95836400-95837000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr8:95836400-95837000	Flanking Active TSS	Brain Germinal Matrix	brain

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