Variant report

Variant	rs7816638
Chromosome Location	chr8:99559206-99559207
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99557700..99559329-chr8:100024185..100025880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132549	Chromatin interaction
ENSG00000253948	Chromatin interaction

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

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

rs_ID	r²[population]
rs10755896	0.81[ASN][1000 genomes]
rs10755897	0.81[ASN][1000 genomes]
rs12550012	0.81[ASN][1000 genomes]
rs12550783	0.81[ASN][1000 genomes]
rs12677183	0.87[ASN][1000 genomes]
rs12679268	0.81[ASN][1000 genomes]
rs13257475	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16897076	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34114299	0.86[ASN][1000 genomes]
rs4442112	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4509292	0.81[ASN][1000 genomes]
rs6651182	0.86[ASN][1000 genomes]
rs6992925	0.82[ASN][1000 genomes]
rs7016626	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72666669	0.81[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	nsv1027362	chr8:99469281-99715845	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv539689	chr8:99469281-99715845	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv891219	chr8:99526819-99643487	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv611808	chr8:99544765-99591736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv1030498	chr8:99545493-99607093	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99525800-99576400	Weak transcription	Pancreas	Pancrea
2	chr8:99531000-99569600	Weak transcription	HMEC	breast
3	chr8:99531200-99561800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:99531400-99586400	Weak transcription	HSMM	muscle
5	chr8:99531600-99561800	Weak transcription	Esophagus	oesophagus
6	chr8:99533400-99566400	Weak transcription	NHLF	lung
7	chr8:99534600-99567200	Weak transcription	A549	lung
8	chr8:99535400-99571600	Weak transcription	Gastric	stomach
9	chr8:99543000-99566800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:99544000-99560800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:99544000-99566800	Weak transcription	Brain Substantia Nigra	brain
12	chr8:99544200-99559400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:99544600-99560000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:99544600-99587000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:99546000-99571600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:99546600-99576400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:99548400-99560800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:99548600-99569800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:99548800-99563400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:99549800-99568200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:99550800-99560200	Weak transcription	Right Ventricle	heart
22	chr8:99551200-99559400	Weak transcription	Small Intestine	intestine
23	chr8:99551200-99560400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:99551200-99561800	Weak transcription	Brain Angular Gyrus	brain
25	chr8:99551400-99566000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:99551800-99562000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:99552000-99572600	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:99552600-99559800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:99553000-99559600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:99553400-99559400	Weak transcription	HepG2	liver
31	chr8:99553400-99560800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:99553400-99569600	Weak transcription	Fetal Lung	lung
33	chr8:99553400-99586000	Weak transcription	Ovary	ovary
34	chr8:99553600-99589600	Weak transcription	Fetal Stomach	stomach
35	chr8:99553800-99561800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:99553800-99566800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:99554200-99567800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:99554800-99572800	Weak transcription	Dnd41	blood
39	chr8:99554800-99593200	Weak transcription	K562	blood
40	chr8:99555400-99564000	Weak transcription	Primary T cells from cord blood	blood
41	chr8:99556000-99560400	Strong transcription	Left Ventricle	heart
42	chr8:99556000-99560800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:99556000-99571600	Weak transcription	Fetal Intestine Large	intestine
44	chr8:99556200-99560400	Weak transcription	Lung	lung
45	chr8:99556200-99606200	Weak transcription	Psoas Muscle	Psoas
46	chr8:99557000-99560200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:99557000-99560400	Strong transcription	NHEK	skin
48	chr8:99557200-99560400	Strong transcription	Placenta	Placenta
49	chr8:99557400-99559600	Enhancers	Osteobl	bone
50	chr8:99557400-99559800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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