Variant report

Variant	rs896855
Chromosome Location	chr8:95959808-95959809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr8:95958628-95959913	GM12878	blood:	n/a	n/a
2	MAZ	chr8:95959432-95959876	GM12878	blood:	n/a	n/a
3	MAZ	chr8:95959785-95959848	HepG2	liver:	n/a	n/a
4	BHLHE40	chr8:95959414-95959911	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:95959220-95959964	HepG2	liver:	n/a	n/a
6	EBF1	chr8:95959418-95960261	GM12878	blood:	n/a	chr8:95959888-95959897 chr8:95959886-95959897
7	TBP	chr8:95959325-95959943	GM12878	blood:	n/a	n/a
8	SIN3AK20	chr8:95959807-95963057	MCF-7	breast:	n/a	n/a
9	ATF2	chr8:95959264-95960070	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:95958966-95959930	K562	blood:	n/a	n/a
11	SMC3	chr8:95959286-95959987	GM12878	blood:	n/a	n/a
12	ZNF143	chr8:95959296-95959953	GM12878	blood:	n/a	n/a
13	RUNX3	chr8:95959123-95960053	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:95959144-95960133	GM12878	blood:	n/a	n/a
15	CHD1	chr8:95959247-95959937	GM12878	blood:	n/a	n/a
16	MTA3	chr8:95959237-95960078	GM12878	blood:	n/a	n/a
17	CTCF	chr8:95959660-95959810	GM12865	blood:	n/a	n/a
18	NFIC	chr8:95959277-95960142	GM12878	blood:	n/a	n/a
19	MXI1	chr8:95959301-95960140	GM12878	blood:	n/a	n/a
20	STAT3	chr8:95959766-95959875	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr8:95959680-95959830	MCF-7	breast:	n/a	n/a
22	MXI1	chr8:95959610-95963133	IMR90	lung:	n/a	n/a
23	MXI1	chr8:95958903-95964905	SK-N-SH	brain:	n/a	n/a
24	BCLAF1	chr8:95959238-95959821	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:63443389..63444065-chr8:95958966..95959897,2	MCF-7	breast:
2	chr8:95958816..95960482-chr8:96125143..96126685,2	MCF-7	breast:
3	chr8:95959150..95962570-chr8:95985356..95988577,4	MCF-7	breast:
4	chr8:95958416..95961526-chr8:96166017..96168571,3	MCF-7	breast:
5	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
6	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
7	chr8:95959784..95963292-chr8:96036254..96039616,3	K562	blood:
8	chr8:95905670..95907596-chr8:95958575..95960918,2	K562	blood:
9	chr8:95950598..95952633-chr8:95958047..95959890,2	K562	blood:
10	chr8:95959680..95964310-chr8:96036583..96039456,6	MCF-7	breast:
11	chr8:95958396..95961086-chr8:96079770..96081416,2	MCF-7	breast:
12	chr8:95958215..95960553-chr8:96082467..96084119,2	MCF-7	breast:
13	chr8:95959198..95962585-chr8:96144089..96147312,4	MCF-7	breast:
14	chr8:95958803..95961918-chr8:96144805..96148535,6	MCF-7	breast:
15	chr8:95959016..95961570-chr8:96028062..96029955,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253878	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000253528	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10081474	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10097617	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10098778	0.95[YRI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10099059	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099941	0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10104909	0.95[YRI][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10108430	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10429294	0.95[ASN][1000 genomes]
rs10429443	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808671	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956933	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12386945	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12546365	0.84[EUR][1000 genomes]
rs12548874	0.84[EUR][1000 genomes]
rs1320164	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13248607	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13254283	0.86[EUR][1000 genomes]
rs13255935	0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13257021	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13262110	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13266313	0.94[ASN][1000 genomes]
rs13270641	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13274945	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13278601	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13281625	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13281709	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1453377	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16893776	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2011566	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2340584	0.87[EUR][1000 genomes]
rs2340586	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28560301	0.91[ASN][1000 genomes]
rs28591375	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28716845	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2879813	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4582532	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735333	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4735335	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735336	0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735337	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735338	0.91[ASN][1000 genomes]
rs4735339	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735340	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61663478	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471502	0.85[ASN][1000 genomes]
rs6471503	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6982393	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6983948	0.87[ASN][1000 genomes]
rs6984240	0.88[ASN][1000 genomes]
rs6987752	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7003387	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs726816	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7815762	0.91[ASN][1000 genomes]
rs7819800	0.91[ASN][1000 genomes]
rs7823059	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7845219	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs896846	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs896847	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs896852	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896853	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896854	0.95[YRI][hapmap]
rs9297949	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs896855	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95933400-95960600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:95953200-95960000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:95953400-95960000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:95953600-95960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:95953800-95960000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:95957000-95960400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:95957200-95960000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:95957200-95960400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:95957200-95960600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:95957200-95960600	Weak transcription	Gastric	stomach
11	chr8:95957400-95960400	Weak transcription	Esophagus	oesophagus
12	chr8:95957800-95963400	Active TSS	Pancreas	Pancrea
13	chr8:95958000-95962600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:95958200-95960200	Weak transcription	Ovary	ovary
15	chr8:95958400-95960600	Weak transcription	Spleen	Spleen
16	chr8:95958400-95960800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr8:95958600-95960600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr8:95958800-95960000	Weak transcription	Right Ventricle	heart
19	chr8:95959000-95960000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:95959000-95960000	Weak transcription	Left Ventricle	heart
21	chr8:95959000-95960000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:95959000-95960200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:95959000-95960200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:95959000-95960400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr8:95959000-95960400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:95959000-95960600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:95959000-95960600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:95959000-95960800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:95959000-95960800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:95959000-95960800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr8:95959000-95961000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr8:95959000-95962200	Active TSS	Rectal Smooth Muscle	rectum
33	chr8:95959200-95960000	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr8:95959200-95960000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr8:95959200-95960200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:95959200-95960200	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:95959200-95960200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:95959200-95960400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:95959200-95960400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:95959200-95960800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr8:95959200-95960800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:95959200-95960800	Flanking Active TSS	Fetal Thymus	thymus
43	chr8:95959200-95960800	Flanking Active TSS	Osteobl	bone
44	chr8:95959200-95961000	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr8:95959200-95961000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr8:95959200-95961800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:95959400-95960000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:95959400-95960000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:95959400-95960400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:95959400-95960400	Flanking Active TSS	Colon Smooth Muscle	Colon

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