Variant report

Variant	rs7814328
Chromosome Location	chr8:8876229-8876230
allele	C/T
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	POLR2A	chr8:8874803-8879040	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8871165..8875097-chr8:8875377..8877429,3	MCF-7	breast:
2	chr8:8873907..8877820-chr8:8877960..8882381,6	K562	blood:
3	chr8:8871151..8874169-chr8:8874496..8877861,4	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10217044	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1045527	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11785634	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11785819	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11787026	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12114954	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13252797	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13271797	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17702602	0.88[AMR][1000 genomes]
rs2409120	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28482034	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28665409	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34004903	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34251783	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3855900	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3895823	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3989373	0.87[AMR][1000 genomes]
rs4840389	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6601279	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6601280	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6601281	0.90[AMR][1000 genomes]
rs6748	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6981060	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6983877	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6986044	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987107	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005056	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7017868	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7462373	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9329175	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9650616	0.88[AMR][1000 genomes];0.99[EUR][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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7814328	ERI1	cis	cerebellar cortex	BrainEAC
rs7814328	ERI1	cis	inferior olivary nucleus	BrainEAC
rs7814328	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs7814328	ERI1	cis	brain	BrainEAC
rs7814328	ERI1	cis	occipital cortex	BrainEAC
rs7814328	RP11-62H7.2	cis	Thyroid	GTEx
rs7814328	ERI1	cis	intralobular white matter	BrainEAC
rs7814328	ERI1	cis	thalamus	BrainEAC
rs7814328	ERI1	cis	temporal cortex	BrainEAC

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
6	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
7	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
8	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
9	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
14	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
16	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:8861800-8892200	Weak transcription	Ovary	ovary
18	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
19	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
21	chr8:8865400-8878800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr8:8865400-8886000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:8865800-8879600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:8868800-8877000	Strong transcription	Fetal Thymus	thymus
25	chr8:8869000-8880600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:8869200-8876400	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:8870000-8879000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:8870200-8883600	Weak transcription	Stomach Mucosa	stomach
29	chr8:8870600-8892200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:8871200-8876400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:8871200-8876600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:8871200-8900000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:8871400-8892800	Weak transcription	HSMMtube	muscle
34	chr8:8871800-8877200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:8871800-8887200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:8871800-8894400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:8872000-8878600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:8872000-8880200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:8872000-8881800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:8872000-8891200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:8872400-8887200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:8872600-8881000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:8872800-8876600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:8873000-8876600	Weak transcription	Primary B cells from cord blood	blood
45	chr8:8873000-8878600	Strong transcription	K562	blood
46	chr8:8873200-8877200	Strong transcription	NHEK	skin
47	chr8:8873200-8882200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:8873600-8876800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:8873600-8877000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:8873600-8877200	Strong transcription	NHDF-Ad	bronchial

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