Variant report

Variant	rs330919
Chromosome Location	chr8:8997415-8997416
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	GATA2	chr8:8997404-8997982	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr8:8997376-8997882	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr8:8997397-8998017	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr8:8997381-8998190	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr8:8991597-8999830	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr8:8997364-8998081	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr8:8997288-8998045	HUVEC	blood vessel:	n/a	n/a
8	FOXP2	chr8:8997402-8998208	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000254340	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12785	0.85[CHB][hapmap];0.83[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs189798	0.80[EUR][1000 genomes]
rs330903	0.86[EUR][1000 genomes]
rs330904	0.87[EUR][1000 genomes]
rs330905	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs330908	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330909	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs330910	0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs330911	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330912	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs330913	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs330914	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs330915	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs330917	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs330918	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs330920	0.95[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs330921	0.83[JPT][hapmap];0.92[MEX][hapmap];0.89[TSI][hapmap]
rs330922	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs330923	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs330924	0.88[JPT][hapmap];0.88[EUR][1000 genomes]
rs408773	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9949	0.85[CHB][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1026279	chr8:8982622-9030279	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	n/a
8	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8990400-8997600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:8992600-9000000	Weak transcription	Hela-S3	cervix
3	chr8:8993400-8997800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:8993600-9005400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:8993800-8997600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:8993800-8997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:8993800-8997600	Weak transcription	HMEC	breast
8	chr8:8993800-8998400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:8993800-8998600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:8993800-9007400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:8994000-8997600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:8994000-8997600	Weak transcription	Brain Substantia Nigra	brain
13	chr8:8994000-8997600	Weak transcription	Thymus	Thymus
14	chr8:8994000-8997800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:8994000-8997800	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:8994200-8997600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:8994200-8997600	Weak transcription	Fetal Kidney	kidney
18	chr8:8994200-8997600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:8994200-8997600	Weak transcription	Pancreas	Pancrea
20	chr8:8994200-8997800	Weak transcription	A549	lung
21	chr8:8994200-9000800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:8994200-9005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:8994200-9007200	Weak transcription	Brain Angular Gyrus	brain
24	chr8:8994200-9007200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:8994200-9007200	Weak transcription	Fetal Brain Male	brain
26	chr8:8994400-8997600	Weak transcription	Fetal Lung	lung
27	chr8:8994400-8997800	Weak transcription	NHEK	skin
28	chr8:8994400-8998400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:8994400-9001000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:8994400-9005200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:8994400-9005200	Weak transcription	Small Intestine	intestine
32	chr8:8994600-8997600	Weak transcription	HSMM	muscle
33	chr8:8994600-8997800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:8994600-8999600	Genic enhancers	HUVEC	blood vessel
35	chr8:8994600-9000400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:8994800-8997600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:8994800-8998200	Genic enhancers	Fetal Intestine Large	intestine
38	chr8:8994800-8998600	Genic enhancers	Fetal Intestine Small	intestine
39	chr8:8994800-8999800	Strong transcription	Fetal Stomach	stomach
40	chr8:8994800-8999800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr8:8994800-9000000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:8994800-9000600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:8994800-9001000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:8994800-9001000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr8:8994800-9001800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:8995000-8997600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:8995000-8999200	Strong transcription	NHDF-Ad	bronchial
48	chr8:8995000-8999400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:8995000-9000600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:8995000-9000800	Strong transcription	H1 Cell Line	embryonic stem cell

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