Variant report

Variant	rs4075835
Chromosome Location	chr8:95833822-95833823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:95833760-95833920	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr8:95833740-95833890	HCT-116	colon:	n/a	n/a
3	CTCF	chr8:95833800-95833950	AG04449	skin:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95833785..95836631-chr8:95907421..95910283,3	K562	blood:
2	chr8:95832903..95835069-chr8:96279436..96281747,2	MCF-7	breast:
3	chr8:95728931..95732611-chr8:95833805..95837140,4	MCF-7	breast:
4	chr8:95833775..95836713-chr8:95905419..95909134,3	MCF-7	breast:
5	chr8:95833077..95835963-chr8:95876251..95878917,2	K562	blood:
6	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
7	chr8:95826436..95828535-chr8:95832884..95835049,2	K562	blood:

No data

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

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10096090	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10098563	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10100651	0.87[ASN][1000 genomes]
rs10112232	0.84[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10441538	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1129152	0.93[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs11996455	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12155666	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12545815	0.92[ASN][1000 genomes]
rs12550765	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs12679044	0.82[CEU][hapmap];0.81[CHB][hapmap];0.92[EUR][1000 genomes]
rs13271375	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13271644	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779789	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4073755	0.90[ASN][1000 genomes]
rs4500055	0.87[CEU][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734285	0.85[ASN][1000 genomes]
rs550564	0.86[CHB][hapmap]
rs6471497	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs6471503	0.81[CHB][hapmap]
rs6471504	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs683832	0.86[CHB][hapmap]
rs6991067	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7002058	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7004862	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs713113	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7817862	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643349	0.91[ASN][1000 genomes]
rs9650133	0.90[EUR][1000 genomes];0.98[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4075835	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL
rs4075835	INTS8	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95827600-95834000	Weak transcription	HepG2	liver
2	chr8:95829200-95834800	Weak transcription	Right Atrium	heart
3	chr8:95831800-95834000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:95831800-95834400	Weak transcription	A549	lung
5	chr8:95831800-95834800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:95832000-95834600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:95832200-95834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:95832400-95834600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:95832600-95834600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:95833600-95834200	Enhancers	K562	blood
11	chr8:95833600-95834400	Enhancers	Dnd41	blood
12	chr8:95833800-95834400	Bivalent Enhancer	GM12878-XiMat	blood
13	chr8:95833800-95834600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr8:95833800-95834600	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:95833800-95834800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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