Variant report

Variant	rs666499
Chromosome Location	chr7:129075668-129075669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129075089..129076920-chr7:129110497..129113086,2	K562	blood:
2	chr7:129041479..129044077-chr7:129074603..129076547,3	K562	blood:
3	chr7:129074655..129077287-chr7:129089903..129091785,2	MCF-7	breast:
4	chr7:129075026..129076715-chr7:129245649..129248205,2	K562	blood:
5	chr7:129075012..129076890-chr7:129077253..129080120,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11768964	0.95[EUR][1000 genomes]
rs1272593	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55832716	0.88[EUR][1000 genomes]
rs581829	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613068	0.92[EUR][1000 genomes]
rs613169	0.92[EUR][1000 genomes]
rs632505	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639605	0.93[EUR][1000 genomes]
rs655239	0.95[EUR][1000 genomes]
rs656981	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs676947	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs690872	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690903	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs692132	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs692248	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692507	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs692686	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs692695	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712692	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712693	0.97[EUR][1000 genomes];0.87[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	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129073600-129076200	Active TSS	Psoas Muscle	Psoas
2	chr7:129073600-129076600	Active TSS	Brain Anterior Caudate	brain
3	chr7:129073600-129077200	Active TSS	Right Ventricle	heart
4	chr7:129074600-129075800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr7:129074800-129075800	Flanking Active TSS	HMEC	breast
6	chr7:129075000-129075800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr7:129075000-129076400	Active TSS	Brain Germinal Matrix	brain
8	chr7:129075200-129075800	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr7:129075200-129075800	Flanking Active TSS	NHDF-Ad	bronchial
10	chr7:129075200-129076000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:129075200-129077400	Transcr. at gene 5' and 3'	K562	blood
12	chr7:129075200-129078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:129075200-129083400	Weak transcription	Brain Substantia Nigra	brain
14	chr7:129075200-129088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:129075200-129096000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:129075200-129100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:129075200-129108400	Weak transcription	Gastric	stomach
18	chr7:129075400-129075800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr7:129075400-129075800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:129075400-129075800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr7:129075400-129075800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:129075400-129075800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
23	chr7:129075400-129075800	Enhancers	HepG2	liver
24	chr7:129075400-129076000	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
25	chr7:129075400-129076000	Enhancers	Dnd41	blood
26	chr7:129075400-129076200	Weak transcription	Left Ventricle	heart
27	chr7:129075400-129076600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:129075400-129077600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:129075400-129078200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:129075400-129078400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:129075400-129078400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:129075400-129078400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:129075400-129078400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:129075400-129078400	Weak transcription	HSMMtube	muscle
35	chr7:129075400-129082800	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:129075400-129085600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:129075400-129086000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:129075400-129093200	Weak transcription	Brain Angular Gyrus	brain
39	chr7:129075400-129102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:129075400-129105800	Weak transcription	Ovary	ovary
41	chr7:129075600-129075800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:129075600-129075800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr7:129075600-129075800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
44	chr7:129075600-129075800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr7:129075600-129075800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
46	chr7:129075600-129075800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:129075600-129075800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:129075600-129075800	Transcr. at gene 5' and 3'	Fetal Heart	heart
49	chr7:129075600-129075800	Enhancers	Osteobl	bone
50	chr7:129075600-129076000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links