Variant report

Variant	rs1713669
Chromosome Location	chr8:95958637-95958638
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 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	CTCF	chr8:95958540-95958690	HPAF	blood vessel:	n/a	n/a
3	CTCF	chr8:95958560-95958710	HCPEpiC	choroid plexus:	n/a	n/a
4	RAD21	chr8:95958491-95958694	GM12878	blood:	n/a	n/a
5	CTCF	chr8:95958580-95958730	GM12865	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:95958416..95961526-chr8:96166017..96168571,3	MCF-7	breast:
2	chr8:95958092..95958805-chr8:96036630..96037346,2	MCF-7	breast:
3	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
4	chr8:95938299..95940006-chr8:95957617..95959373,2	K562	blood:
5	chr8:95905670..95907596-chr8:95958575..95960918,2	K562	blood:
6	chr8:95950598..95952633-chr8:95958047..95959890,2	K562	blood:
7	chr8:95906253..95907996-chr8:95957630..95959558,2	MCF-7	breast:
8	chr8:95958396..95961086-chr8:96079770..96081416,2	MCF-7	breast:
9	chr8:95958215..95960553-chr8:96082467..96084119,2	MCF-7	breast:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11781134	1.00[CHB][hapmap]
rs2515226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2515236	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs481887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs509594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs527234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.82[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs572547	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs574183	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62523081	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896854	0.83[MEX][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1713669	TP53INP1	cis	cerebellum	SCAN
rs1713669	INTS8	cis	lymphoblastoid	seeQTL
rs1713669	TP53INP1	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 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	chr8:95952600-95959400	Weak transcription	NHEK	skin
3	chr8:95952600-95959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:95952600-95959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:95953000-95959800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:95953200-95959000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:95953200-95959000	Genic enhancers	Fetal Thymus	thymus
8	chr8:95953200-95959200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr8:95953200-95959200	Weak transcription	HSMMtube	muscle
10	chr8:95953200-95960000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:95953400-95959600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:95953400-95960000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:95953600-95959000	Weak transcription	NH-A	brain
14	chr8:95953600-95960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:95953800-95959000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:95953800-95960000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:95954200-95959000	Enhancers	Left Ventricle	heart
18	chr8:95954600-95959800	Enhancers	Brain Anterior Caudate	brain
19	chr8:95955200-95958800	Enhancers	Stomach Mucosa	stomach
20	chr8:95955200-95959800	Enhancers	Fetal Heart	heart
21	chr8:95955800-95959400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr8:95956000-95959600	Enhancers	Brain Hippocampus Middle	brain
23	chr8:95956200-95959000	Genic enhancers	Primary hematopoietic stem cells	blood
24	chr8:95956200-95959200	Enhancers	Fetal Kidney	kidney
25	chr8:95956200-95959400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:95956200-95959800	Enhancers	Brain Substantia Nigra	brain
27	chr8:95956200-95959800	Enhancers	HepG2	liver
28	chr8:95956400-95958800	Genic enhancers	Fetal Muscle Leg	muscle
29	chr8:95956400-95958800	Enhancers	Right Ventricle	heart
30	chr8:95956600-95959000	Enhancers	Adipose Nuclei	Adipose
31	chr8:95956600-95959200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:95956600-95959200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:95956800-95959000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:95956800-95959000	Genic enhancers	NHDF-Ad	bronchial
35	chr8:95956800-95959400	Enhancers	Colon Smooth Muscle	Colon
36	chr8:95957000-95958800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr8:95957000-95959000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:95957000-95959000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:95957000-95959000	Weak transcription	Fetal Brain Female	brain
40	chr8:95957000-95959200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:95957000-95960400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:95957200-95959000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:95957200-95959000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:95957200-95959000	Weak transcription	Aorta	Aorta
45	chr8:95957200-95959000	Enhancers	Thymus	Thymus
46	chr8:95957200-95959200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:95957200-95959200	Weak transcription	Fetal Stomach	stomach
48	chr8:95957200-95959200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:95957200-95959400	Flanking Active TSS	Liver	Liver
50	chr8:95957200-95959600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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