Variant report

Variant	rs2515218
Chromosome Location	chr8:99821668-99821669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99818410..99822032-chr8:99835031..99838163,3	K562	blood:
2	chr8:99808268..99810825-chr8:99820563..99822919,2	K562	blood:
3	chr8:99820768..99823358-chr8:99828939..99831615,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104375	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2310805	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2515223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2922083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3019294	1.00[ASW][hapmap];1.00[TSI][hapmap]
rs55964698	1.00[AFR][1000 genomes]
rs985794	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2515218	TP53INP1	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99809800-99823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:99809800-99823000	Weak transcription	HMEC	breast
3	chr8:99813400-99828200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:99813800-99836400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:99813800-99836400	Weak transcription	Fetal Stomach	stomach
6	chr8:99814200-99826600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:99814400-99823000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:99817200-99822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:99819000-99829600	Weak transcription	Stomach Mucosa	stomach
10	chr8:99819800-99821800	Enhancers	NHDF-Ad	bronchial
11	chr8:99820000-99821800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:99820000-99821800	Enhancers	Ovary	ovary
13	chr8:99820200-99823400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:99820400-99822000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:99820400-99830000	Weak transcription	Hela-S3	cervix
16	chr8:99820400-99830200	Weak transcription	Brain Substantia Nigra	brain
17	chr8:99820800-99821800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:99820800-99835600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:99821000-99821800	Enhancers	Gastric	stomach
20	chr8:99821000-99829800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:99821200-99823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:99821200-99825400	Weak transcription	Aorta	Aorta
23	chr8:99821200-99827000	Weak transcription	Small Intestine	intestine
24	chr8:99821200-99829600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:99821200-99829800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:99821200-99836400	Weak transcription	A549	lung
27	chr8:99821400-99822200	Weak transcription	Esophagus	oesophagus
28	chr8:99821400-99822200	Weak transcription	Left Ventricle	heart
29	chr8:99821400-99822400	Enhancers	Lung	lung
30	chr8:99821400-99822600	Weak transcription	Right Ventricle	heart
31	chr8:99821400-99822800	Weak transcription	K562	blood
32	chr8:99821400-99823200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:99821400-99823200	Weak transcription	NHLF	lung
34	chr8:99821400-99825400	Weak transcription	Fetal Lung	lung
35	chr8:99821400-99826600	Weak transcription	Pancreas	Pancrea
36	chr8:99821400-99828000	Weak transcription	Adipose Nuclei	Adipose
37	chr8:99821400-99828400	Weak transcription	Right Atrium	heart
38	chr8:99821400-99829400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:99821400-99834000	Weak transcription	Fetal Heart	heart
40	chr8:99821400-99836600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:99821600-99822800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:99821600-99823000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:99821600-99823000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:99821600-99823000	Weak transcription	Psoas Muscle	Psoas
45	chr8:99821600-99823000	Enhancers	GM12878-XiMat	blood
46	chr8:99821600-99823000	Weak transcription	NHEK	skin
47	chr8:99821600-99823200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:99821600-99823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:99821600-99828200	Weak transcription	Liver	Liver
50	chr8:99821600-99828200	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links