Variant report

Variant	rs896849
Chromosome Location	chr8:95942244-95942245
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95908677..95910544-chr8:95940800..95943519,2	MCF-7	breast:
2	chr8:95938390..95942310-chr8:95942961..95947841,5	MCF-7	breast:
3	chr8:95905785..95909727-chr8:95939984..95942423,3	MCF-7	breast:
4	chr8:95940317..95943070-chr8:95944968..95947278,2	MCF-7	breast:
5	chr8:95937635..95940047-chr8:95941956..95944117,3	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TP53INP1	hsa-miR-155-5p	chr8:95942225-95942244

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
TP53INP1	miRNA target site

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1017634	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956930	0.82[YRI][hapmap]
rs10956932	0.80[MKK][hapmap]
rs1971212	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2013995	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253173	1.00[CEU][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2459963	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2459964	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2459965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2466431	0.92[ASN][1000 genomes]
rs2467672	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467673	0.95[ASN][1000 genomes]
rs2467674	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467675	0.97[ASN][1000 genomes]
rs2467676	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515235	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515237	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945554	0.83[ASW][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs3019175	0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs36118131	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7001535	0.86[YRI][hapmap]
rs7015841	0.84[LWK][hapmap]
rs7017487	0.85[LWK][hapmap]
rs7760	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[ASN][1000 genomes]
rs7820818	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	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
6	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
rs896849	C8orf38	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95918600-95947400	Weak transcription	Small Intestine	intestine
2	chr8:95919200-95948600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:95926200-95946400	Weak transcription	Stomach Mucosa	stomach
4	chr8:95930600-95948600	Weak transcription	Gastric	stomach
5	chr8:95931800-95950000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:95933400-95960600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:95933600-95949600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:95935200-95956400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:95935800-95952000	Weak transcription	NHEK	skin
10	chr8:95936000-95942600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:95936400-95956800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:95936800-95946000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr8:95937000-95956800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:95937200-95946000	Strong transcription	Placenta	Placenta
15	chr8:95937200-95953400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:95937200-95956000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:95937400-95946200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:95937400-95950800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:95938000-95943400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:95938400-95943800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr8:95938400-95954200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:95938400-95954200	Strong transcription	NHDF-Ad	bronchial
23	chr8:95938600-95942600	Weak transcription	GM12878-XiMat	blood
24	chr8:95938600-95945600	Strong transcription	Osteobl	bone
25	chr8:95938800-95942600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:95939000-95943000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:95939000-95943400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:95939000-95954000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:95939200-95942600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:95939200-95946000	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr8:95939400-95942600	Weak transcription	Psoas Muscle	Psoas
32	chr8:95939400-95943000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:95939600-95942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:95939600-95942800	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr8:95939600-95942800	Strong transcription	Dnd41	blood
36	chr8:95939600-95943000	Strong transcription	Fetal Muscle Leg	muscle
37	chr8:95939600-95943000	Strong transcription	HMEC	breast
38	chr8:95939600-95943400	Strong transcription	HSMM	muscle
39	chr8:95939600-95945800	Strong transcription	Fetal Intestine Large	intestine
40	chr8:95939800-95942600	Strong transcription	Fetal Lung	lung
41	chr8:95939800-95942600	Weak transcription	A549	lung
42	chr8:95939800-95948600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:95939800-95950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:95940000-95942800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:95940000-95943000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:95940000-95943400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:95940200-95942800	Strong transcription	Fetal Kidney	kidney
48	chr8:95940200-95942800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:95940200-95943000	Strong transcription	HSMMtube	muscle
50	chr8:95940200-95943200	Strong transcription	Thymus	Thymus

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