Variant report

Variant	rs7814352
Chromosome Location	chr8:105598789-105598790
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	BHLHE40	chr8:105597925-105599273	GM12878	blood:	n/a	n/a
2	RELA	chr8:105597869-105598959	GM12878	blood:	n/a	n/a
3	CHD1	chr8:105597872-105601900	GM12878	blood:	n/a	chr8:105601730-105601740
4	IRF1	chr8:105597881-105599148	K562	blood:	n/a	chr8:105598637-105598646
5	POLR2A	chr8:105596596-105602930	K562	blood:	n/a	n/a
6	TBP	chr8:105597820-105600273	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:105598778-105599271	GM12878	blood:	n/a	n/a
8	RUNX3	chr8:105597750-105599334	GM12878	blood:	n/a	chr8:105598075-105598084 chr8:105598076-105598093 chr8:105598075-105598084
9	CEBPB	chr8:105598522-105598789	K562	blood:	n/a	n/a
10	NFIC	chr8:105597715-105599223	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:105597878-105602244	GM12878	blood:	n/a	n/a
12	IKZF1	chr8:105597814-105599196	GM12878	blood:	n/a	chr8:105598018-105598026
13	EP300	chr8:105597834-105598845	K562	blood:	n/a	chr8:105598514-105598524
14	RUNX3	chr8:105598671-105599069	GM12878	blood:	n/a	n/a
15	CUX1	chr8:105597911-105598934	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:105597422..105599476-chr8:105599959..105601722,3	MCF-7	breast:
2	chr8:105583573..105585685-chr8:105598077..105599877,2	K562	blood:
3	chr8:105565178..105567381-chr8:105597153..105599899,2	K562	blood:
4	chr8:105587608..105589528-chr8:105597267..105600152,2	K562	blood:

Variant related genes	Relation type
ENSG00000253350	TF binding region
ENSG00000147650	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11987427	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12543329	0.85[JPT][hapmap]
rs12545473	0.83[AMR][1000 genomes]
rs12546843	0.85[JPT][hapmap]
rs12674790	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681417	0.85[JPT][hapmap]
rs2853132	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2942570	0.84[LWK][hapmap];0.96[YRI][hapmap]
rs2959026	0.96[YRI][hapmap]
rs4461873	0.85[JPT][hapmap]
rs4474003	0.85[JPT][hapmap]
rs4563861	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734108	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7813115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7845549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105584200-105600000	Weak transcription	Aorta	Aorta
2	chr8:105595800-105599600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:105596000-105599200	Weak transcription	Right Ventricle	heart
4	chr8:105597000-105598800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:105597200-105599600	Weak transcription	Fetal Lung	lung
6	chr8:105597600-105598800	Enhancers	Brain Germinal Matrix	brain
7	chr8:105597600-105599000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:105597600-105600000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:105597800-105598800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:105597800-105599000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:105597800-105599000	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:105597800-105599000	Weak transcription	Fetal Thymus	thymus
13	chr8:105597800-105599000	Flanking Active TSS	A549	lung
14	chr8:105597800-105599200	Flanking Active TSS	Dnd41	blood
15	chr8:105597800-105599400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:105597800-105599600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:105597800-105599600	Enhancers	Fetal Brain Male	brain
18	chr8:105597800-105599600	Flanking Active TSS	K562	blood
19	chr8:105598000-105598800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:105598000-105598800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr8:105598000-105598800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:105598000-105599000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:105598000-105599400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:105598000-105599400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:105598000-105599400	Enhancers	Thymus	Thymus
26	chr8:105598000-105599800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:105598000-105600000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:105598000-105600000	Enhancers	Fetal Heart	heart
29	chr8:105598200-105599200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:105598200-105599400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:105598200-105599800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:105598200-105600000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:105598200-105600000	Enhancers	Fetal Intestine Small	intestine
34	chr8:105598400-105599200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:105598400-105599800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:105598400-105599800	Weak transcription	HSMMtube	muscle
37	chr8:105598600-105598800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:105598600-105599000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:105598600-105599000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:105598600-105599200	Enhancers	Brain Hippocampus Middle	brain
41	chr8:105598600-105599400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:105598600-105599600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr8:105598600-105599600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:105598600-105599600	Enhancers	Osteobl	bone
45	chr8:105598600-105599800	Flanking Active TSS	Fetal Brain Female	brain
46	chr8:105598600-105599800	Weak transcription	HSMM	muscle
47	chr8:105598600-105602400	Active TSS	GM12878-XiMat	blood

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