Variant report

Variant	rs7791286
Chromosome Location	chr7:50856792-50856793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50855414..50858546-chr7:50859457..50861249,3	MCF-7	breast:
2	chr7:50763398..50765594-chr7:50855405..50857428,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1014384	0.81[GIH][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs1019002	0.85[CEU][hapmap]
rs10216232	0.84[CEU][hapmap]
rs10464765	0.81[AFR][1000 genomes]
rs10464766	0.81[AFR][1000 genomes]
rs10464790	0.81[AFR][1000 genomes]
rs11238326	0.86[GIH][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs11238337	0.91[GIH][hapmap];0.96[YRI][hapmap]
rs11983539	0.91[GIH][hapmap];0.81[AFR][1000 genomes]
rs12718925	0.81[AFR][1000 genomes]
rs12718926	0.81[AFR][1000 genomes]
rs12718929	0.81[AFR][1000 genomes]
rs12718930	0.81[AFR][1000 genomes]
rs1548609	0.85[CEU][hapmap]
rs17152083	0.86[CHB][hapmap]
rs17547664	0.86[CHB][hapmap]
rs17547986	0.86[CHB][hapmap]
rs17548938	0.82[CHB][hapmap]
rs1859571	0.81[AFR][1000 genomes]
rs2051896	0.81[AFR][1000 genomes]
rs2108350	0.85[CEU][hapmap]
rs2286155	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs2529400	0.85[CEU][hapmap]
rs2715102	0.85[CEU][hapmap]
rs2715105	0.85[CEU][hapmap]
rs2715118	0.85[CEU][hapmap]
rs4245558	0.86[CHB][hapmap]
rs4947432	0.85[CEU][hapmap]
rs4947444	0.84[CEU][hapmap]
rs4947446	0.85[CEU][hapmap]
rs4947816	0.86[CHB][hapmap]
rs4947837	0.84[CEU][hapmap]
rs4947854	1.00[CHB][hapmap]
rs4947866	0.91[CEU][hapmap]
rs6593140	0.85[CEU][hapmap]
rs6593142	0.85[CEU][hapmap]
rs6593180	0.81[AFR][1000 genomes]
rs6943901	0.89[GIH][hapmap];0.91[YRI][hapmap]
rs6958750	0.81[AFR][1000 genomes]
rs6963498	0.91[GIH][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs6971834	0.91[GIH][hapmap];0.91[YRI][hapmap]
rs6973119	0.85[CEU][hapmap]
rs757771	1.00[CHB][hapmap]
rs757775	0.85[CEU][hapmap]
rs7786917	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs7799091	0.80[EUR][1000 genomes]
rs7803278	0.81[AFR][1000 genomes]
rs962508	0.85[CEU][hapmap]
rs990358	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538835	chr7:50839656-50867735	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv824092	chr7:50846084-50865531	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7791286	LOC100129427	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50850800-50858600	Weak transcription	Aorta	Aorta
2	chr7:50851000-50859000	Weak transcription	NHLF	lung
3	chr7:50851200-50857000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:50851400-50857800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:50851400-50858200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:50851600-50857600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:50851600-50857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:50851600-50857800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:50851600-50858200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:50851600-50858200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:50851600-50859000	Weak transcription	Osteobl	bone
12	chr7:50852000-50858200	Weak transcription	Fetal Lung	lung
13	chr7:50852200-50858200	Weak transcription	HSMMtube	muscle
14	chr7:50852600-50857600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:50853000-50857800	Weak transcription	NH-A	brain
16	chr7:50853400-50858200	Enhancers	Pancreas	Pancrea
17	chr7:50853400-50859800	Weak transcription	Gastric	stomach
18	chr7:50854400-50856800	Enhancers	Right Atrium	heart
19	chr7:50854600-50856800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:50854600-50857800	Enhancers	HUVEC	blood vessel
21	chr7:50854800-50857800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:50854800-50857800	Enhancers	Left Ventricle	heart
23	chr7:50854800-50858200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:50854800-50858200	Enhancers	Lung	lung
25	chr7:50855000-50857200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:50855200-50856800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:50855200-50856800	ZNF genes & repeats	Fetal Stomach	stomach
28	chr7:50855200-50857200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:50855200-50857200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:50855200-50857200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:50855200-50857200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:50855200-50857200	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr7:50855200-50857200	ZNF genes & repeats	Spleen	Spleen
34	chr7:50855200-50857400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:50855200-50857400	ZNF genes & repeats	Hela-S3	cervix
36	chr7:50855200-50858000	Genic enhancers	K562	blood
37	chr7:50855400-50857400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:50855800-50857200	Weak transcription	Ovary	ovary
39	chr7:50855800-50857400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr7:50855800-50857400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr7:50856000-50856800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr7:50856000-50857200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr7:50856000-50857200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:50856000-50857400	ZNF genes & repeats	A549	lung
45	chr7:50856200-50857000	Enhancers	Colon Smooth Muscle	Colon
46	chr7:50856200-50857200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:50856200-50857200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:50856200-50857200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr7:50856200-50857600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:50856200-50857600	Weak transcription	Right Ventricle	heart

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