Variant report

Variant	rs527234
Chromosome Location	chr8:95963798-95963799
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr8:95963499-95963949	MCF-7	breast:	n/a	chr8:95963765-95963774
2	GATA3	chr8:95963305-95964134	MCF-7	breast:	n/a	n/a
3	GATA3	chr8:95963463-95963938	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:95961364-95964241	GM12878	blood:	n/a	n/a
5	RFX5	chr8:95961247-95963994	SK-N-SH	brain:	n/a	chr8:95961600-95961608
6	POLR2A	chr8:95961408-95964161	GM12891	blood:	n/a	n/a
7	POLR2A	chr8:95963760-95963805	ProgFib	skin:	n/a	n/a
8	GATA2	chr8:95963359-95963913	SH-SY5Y	brain:	n/a	n/a
9	EP300	chr8:95961362-95964115	SK-N-SH	brain:	n/a	chr8:95963765-95963775 chr8:95961887-95961903
10	FOXA1	chr8:95963610-95963927	ECC-1	luminal epithelium:	n/a	chr8:95963760-95963775
11	FOXA1	chr8:95963609-95963985	T-47D	breast:	n/a	chr8:95963760-95963775
12	POLR2A	chr8:95963244-95964071	K562	blood:	n/a	n/a
13	POLR2A	chr8:95961365-95964674	HepG2	liver:	n/a	n/a
14	FOXA1	chr8:95963568-95963870	T-47D	breast:	n/a	chr8:95963760-95963775
15	ZNF263	chr8:95963264-95964626	HEK293-T-REx	kidney:	n/a	n/a
16	POLR2A	chr8:95961394-95964301	HepG2	liver:	n/a	n/a
17	POLR2A	chr8:95963123-95963919	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr8:95963657-95963822	H1-hESC	embryonic stem cell:	n/a	chr8:95963753-95963762
19	MXI1	chr8:95958903-95964905	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95960008..95964622-chr8:95970124..95974538,6	MCF-7	breast:
2	chr8:95907370..95909639-chr8:95961818..95964122,3	MCF-7	breast:
3	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
4	chr8:95962222..95963809-chr8:96146177..96149016,2	MCF-7	breast:
5	chr8:95908275..95911187-chr8:95962763..95964938,2	K562	blood:
6	chr8:95962646..95965102-chr8:96032516..96035099,2	MCF-7	breast:
7	chr8:95959680..95964310-chr8:96036583..96039456,6	MCF-7	breast:
8	chr8:95961511..95965084-chr8:95968441..95972141,5	K562	blood:

Variant related genes	Relation type
TP53INP1	TF binding region
ENSG00000156170	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000175305	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	0.80[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];0.90[LWK][hapmap];0.82[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515226	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]
rs2515236	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs481887	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]
rs509594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs572547	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs574183	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62523081	0.86[EUR][1000 genomes];0.93[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	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
5	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs527234	INTS8	cis	lymphoblastoid	seeQTL
rs527234	TP53INP1	cis	cerebellum	SCAN
rs527234	TP53INP1	cis	multi-tissue	Pritchard

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95962000-95963800	Flanking Active TSS	Brain Hippocampus Middle	brain
2	chr8:95962000-95963800	Flanking Active TSS	GM12878-XiMat	blood
3	chr8:95962000-95964200	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr8:95962000-95964400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:95962200-95963800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:95962200-95964000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:95962200-95977800	Weak transcription	Hela-S3	cervix
8	chr8:95962400-95963800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:95962400-95963800	Flanking Active TSS	NHEK	skin
10	chr8:95962400-95964200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:95962400-95971400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:95962600-95964000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:95962600-95964000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:95962600-95964200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:95962600-95970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr8:95962800-95963800	Enhancers	Adipose Nuclei	Adipose
17	chr8:95962800-95963800	Weak transcription	Fetal Intestine Large	intestine
18	chr8:95962800-95963800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:95962800-95964000	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:95962800-95964000	Enhancers	Fetal Muscle Leg	muscle
21	chr8:95962800-95964000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr8:95962800-95964200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:95962800-95964200	Enhancers	K562	blood
24	chr8:95962800-95964400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:95962800-95964600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:95962800-95964600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:95962800-95964600	Enhancers	Lung	lung
28	chr8:95962800-95964800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:95962800-95964800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:95962800-95964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr8:95962800-95964800	Enhancers	Brain Angular Gyrus	brain
32	chr8:95962800-95969400	Weak transcription	Dnd41	blood
33	chr8:95962800-95972400	Weak transcription	Aorta	Aorta
34	chr8:95962800-95974200	Weak transcription	Gastric	stomach
35	chr8:95962800-95975800	Weak transcription	Right Ventricle	heart
36	chr8:95962800-95977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:95962800-95979800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:95962800-95980200	Weak transcription	Ovary	ovary
39	chr8:95962800-95980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:95963000-95963800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:95963000-95964000	Enhancers	Fetal Lung	lung
42	chr8:95963000-95964200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:95963000-95964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr8:95963000-95964400	Enhancers	Osteobl	bone
45	chr8:95963000-95964600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:95963000-95964600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr8:95963000-95964600	Enhancers	Brain Substantia Nigra	brain
48	chr8:95963000-95964800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:95963000-95964800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:95963000-95964800	Enhancers	Fetal Kidney	kidney

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