Variant report

Variant	rs7001549
Chromosome Location	chr8:99379189-99379190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99379179..99380825-chr8:99393118..99395481,2	K562	blood:
2	chr8:99377803..99379951-chr8:99386336..99389096,2	K562	blood:
3	chr8:99303887..99307017-chr8:99378678..99381266,3	MCF-7	breast:
4	chr8:99371126..99375307-chr8:99376656..99381075,4	K562	blood:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10955167	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13262430	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16896921	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16896929	0.94[CEU][hapmap];0.87[CHB][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28452766	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35961136	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6468634	0.84[EUR][1000 genomes]
rs6468635	0.83[EUR][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv891217	chr8:99346537-99391285	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv515633	chr8:99374659-99379259	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7001549	PLOD2	trans	lymphoblastoid	seeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99374600-99380200	Weak transcription	Gastric	stomach
2	chr8:99377200-99379400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:99377200-99379600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:99377200-99379600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:99377200-99379800	Weak transcription	Left Ventricle	heart
6	chr8:99377400-99379200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:99377400-99379200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:99377400-99379800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:99377400-99379800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:99377400-99379800	Weak transcription	Placenta	Placenta
11	chr8:99377400-99380000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:99377400-99380600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:99377400-99384000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:99377400-99384800	Weak transcription	Right Atrium	heart
15	chr8:99377600-99379800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:99377600-99379800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:99377600-99380800	Weak transcription	Fetal Brain Male	brain
18	chr8:99377600-99384200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:99377800-99379600	Enhancers	GM12878-XiMat	blood
20	chr8:99377800-99379600	Enhancers	Osteobl	bone
21	chr8:99377800-99380600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:99377800-99381000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:99377800-99381000	Enhancers	NHDF-Ad	bronchial
24	chr8:99377800-99381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:99378800-99379200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:99378800-99379200	Enhancers	HMEC	breast
27	chr8:99378800-99379400	Flanking Active TSS	Fetal Lung	lung
28	chr8:99378800-99379600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:99378800-99381400	Enhancers	NHLF	lung
30	chr8:99378800-99386000	Enhancers	Fetal Heart	heart
31	chr8:99379000-99379200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
32	chr8:99379000-99379200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:99379000-99379200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:99379000-99379200	ZNF genes & repeats	Aorta	Aorta
35	chr8:99379000-99379200	Enhancers	Fetal Kidney	kidney
36	chr8:99379000-99379400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr8:99379000-99379600	Enhancers	NH-A	brain
38	chr8:99379000-99379800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:99379000-99379800	Enhancers	Stomach Smooth Muscle	stomach
40	chr8:99379000-99380200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:99379000-99380400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:99379000-99380400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:99379000-99380600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:99379000-99381200	Enhancers	Pancreas	Pancrea
45	chr8:99379000-99381200	Enhancers	Right Ventricle	heart
46	chr8:99379000-99382600	Enhancers	Fetal Stomach	stomach
47	chr8:99379000-99383000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:99379000-99386800	Enhancers	Ovary	ovary

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