Variant report

Variant	rs481887
Chromosome Location	chr8:95967838-95967839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95960036..95962900-chr8:95966783..95969994,3	MCF-7	breast:
2	chr8:95966010..95969504-chr8:96000231..96003334,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253878	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11781134	1.00[CHB][hapmap]
rs16893774	0.84[YRI][hapmap]
rs16917117	0.83[LWK][hapmap];0.84[YRI][hapmap]
rs1713669	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]
rs2515226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515236	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs509594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs572547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574183	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62523081	0.86[EUR][1000 genomes];0.88[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	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
5	nsv818645	chr8:95967838-95974373	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs481887	INTS8	cis	lymphoblastoid	seeQTL
rs481887	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL
rs481887	TP53INP1	cis	cerebellum	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95962200-95977800	Weak transcription	Hela-S3	cervix
2	chr8:95962400-95971400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:95962600-95970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:95962800-95969400	Weak transcription	Dnd41	blood
5	chr8:95962800-95972400	Weak transcription	Aorta	Aorta
6	chr8:95962800-95974200	Weak transcription	Gastric	stomach
7	chr8:95962800-95975800	Weak transcription	Right Ventricle	heart
8	chr8:95962800-95977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:95962800-95979800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:95962800-95980200	Weak transcription	Ovary	ovary
11	chr8:95962800-95980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:95963000-95970000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:95963000-95971200	Weak transcription	Fetal Intestine Small	intestine
14	chr8:95963000-95971400	Weak transcription	Primary B cells from cord blood	blood
15	chr8:95963000-95975800	Weak transcription	Fetal Stomach	stomach
16	chr8:95963000-95980400	Weak transcription	HSMM	muscle
17	chr8:95963400-95970200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:95963400-95974200	Weak transcription	Psoas Muscle	Psoas
19	chr8:95963600-95968400	Weak transcription	Spleen	Spleen
20	chr8:95963600-95970000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:95963600-95970000	Weak transcription	Left Ventricle	heart
22	chr8:95963600-95971400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:95963600-95972400	Weak transcription	NHLF	lung
24	chr8:95963600-95973800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:95963600-95974000	Weak transcription	Esophagus	oesophagus
26	chr8:95963600-95977800	Weak transcription	HUVEC	blood vessel
27	chr8:95963600-95979600	Weak transcription	A549	lung
28	chr8:95963800-95970800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:95963800-95973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:95963800-95979400	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:95964000-95970200	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:95964000-95971000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr8:95964200-95968200	Weak transcription	K562	blood
34	chr8:95964200-95969400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:95964200-95970000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:95964200-95970200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:95964200-95970400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:95964200-95971400	Weak transcription	Fetal Intestine Large	intestine
39	chr8:95964400-95969200	Weak transcription	Fetal Heart	heart
40	chr8:95964400-95969600	Weak transcription	Right Atrium	heart
41	chr8:95964400-95971000	Weak transcription	HMEC	breast
42	chr8:95964400-95972000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:95964400-95973600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:95964400-95973800	Weak transcription	Osteobl	bone
45	chr8:95964400-95976000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:95964400-95980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:95964600-95970200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:95964600-95970200	Weak transcription	Thymus	Thymus
50	chr8:95964600-95970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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