Variant report

Variant	rs2515226
Chromosome Location	chr8:95965743-95965744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95961112..95962978-chr8:95964456..95966777,4	MCF-7	breast:
2	chr8:95965686..95967473-chr8:95969659..95972109,2	K562	blood:
3	chr8:95961881..95963411-chr8:95964229..95965877,2	K562	blood:
4	chr8:95964646..95966480-chr8:95995323..95997678,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253878	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs16893774	0.83[YRI][hapmap]
rs16917117	0.83[YRI][hapmap]
rs1713669	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	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs481887	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]
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];0.98[ASN][1000 genomes]
rs527234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs572547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574183	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62523081	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2515226	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 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	chr8:95963000-95966000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:95963000-95970000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:95963000-95971200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:95963000-95971400	Weak transcription	Primary B cells from cord blood	blood
16	chr8:95963000-95975800	Weak transcription	Fetal Stomach	stomach
17	chr8:95963000-95980400	Weak transcription	HSMM	muscle
18	chr8:95963400-95965800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:95963400-95970200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:95963400-95974200	Weak transcription	Psoas Muscle	Psoas
21	chr8:95963600-95968400	Weak transcription	Spleen	Spleen
22	chr8:95963600-95970000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:95963600-95970000	Weak transcription	Left Ventricle	heart
24	chr8:95963600-95971400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:95963600-95972400	Weak transcription	NHLF	lung
26	chr8:95963600-95973800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:95963600-95974000	Weak transcription	Esophagus	oesophagus
28	chr8:95963600-95977800	Weak transcription	HUVEC	blood vessel
29	chr8:95963600-95979600	Weak transcription	A549	lung
30	chr8:95963800-95970800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:95963800-95973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:95963800-95979400	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:95964000-95966200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:95964000-95970200	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:95964000-95971000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:95964200-95968200	Weak transcription	K562	blood
37	chr8:95964200-95969400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:95964200-95970000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:95964200-95970200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:95964200-95970400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:95964200-95971400	Weak transcription	Fetal Intestine Large	intestine
42	chr8:95964400-95969200	Weak transcription	Fetal Heart	heart
43	chr8:95964400-95969600	Weak transcription	Right Atrium	heart
44	chr8:95964400-95971000	Weak transcription	HMEC	breast
45	chr8:95964400-95972000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:95964400-95973600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:95964400-95973800	Weak transcription	Osteobl	bone
48	chr8:95964400-95976000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:95964400-95980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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