Variant report

Variant	rs2608292
Chromosome Location	chr7:150931735-150931736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150776319..150779502-chr7:150929825..150933736,3	K562	blood:
2	chr7:150930547..150933438-chr7:151037429..151040414,2	MCF-7	breast:
3	chr7:150905206..150906764-chr7:150930054..150932100,2	MCF-7	breast:
4	chr7:150690495..150692157-chr7:150930437..150932550,2	K562	blood:
5	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082014	Chromatin interaction
ENSG00000013374	Chromatin interaction
ENSG00000164896	Chromatin interaction
ENSG00000164867	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1870238	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242141	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2256864	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2414	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2429248	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2446065	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2487152	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487154	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2487155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2608288	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2608293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2792434	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2792435	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2792436	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3800792	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3800793	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4725398	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4726009	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4726010	0.91[ASN][1000 genomes]
rs6464134	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6949587	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs758249	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs897917	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs921987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2608292	ABCF2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150930200-150931800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:150930600-150932200	Weak transcription	Aorta	Aorta
3	chr7:150930600-150940000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:150930800-150932400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:150930800-150934000	Genic enhancers	Fetal Muscle Trunk	muscle
6	chr7:150931000-150931800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:150931000-150931800	Enhancers	Fetal Brain Male	brain
8	chr7:150931000-150932000	Genic enhancers	Brain Germinal Matrix	brain
9	chr7:150931000-150932200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:150931000-150932200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:150931000-150932200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:150931000-150932200	Weak transcription	Esophagus	oesophagus
13	chr7:150931000-150932400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:150931000-150932600	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr7:150931000-150932800	Genic enhancers	Gastric	stomach
16	chr7:150931000-150932800	Genic enhancers	Pancreas	Pancrea
17	chr7:150931000-150933000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:150931000-150933600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:150931000-150933800	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:150931000-150944600	Weak transcription	Fetal Kidney	kidney
21	chr7:150931200-150931800	Weak transcription	Fetal Intestine Large	intestine
22	chr7:150931200-150932000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:150931200-150932000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:150931200-150932000	Weak transcription	Brain Substantia Nigra	brain
25	chr7:150931200-150932000	Weak transcription	Ovary	ovary
26	chr7:150931200-150932000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr7:150931200-150932000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:150931200-150932200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:150931200-150932200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:150931200-150932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:150931200-150932200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:150931200-150932200	Weak transcription	Psoas Muscle	Psoas
33	chr7:150931200-150932200	Weak transcription	Right Ventricle	heart
34	chr7:150931200-150932400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:150931200-150932400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:150931200-150932400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:150931200-150932600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:150931200-150933000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:150931200-150933000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:150931200-150933800	Weak transcription	Fetal Lung	lung
41	chr7:150931200-150935600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:150931200-150936200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:150931200-150936400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr7:150931200-150937400	Weak transcription	Right Atrium	heart
45	chr7:150931200-150938200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:150931200-150940000	Strong transcription	Fetal Intestine Small	intestine
47	chr7:150931200-150940000	Weak transcription	Stomach Mucosa	stomach
48	chr7:150931200-150940200	Strong transcription	Fetal Stomach	stomach
49	chr7:150931400-150931800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:150931400-150931800	Weak transcription	Primary B cells from peripheral blood	blood

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