Variant report

Variant	rs6943021
Chromosome Location	chr7:129109259-129109260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129080760..129083250-chr7:129109183..129110729,2	K562	blood:
2	chr7:129010182..129012149-chr7:129109037..129111921,3	K562	blood:
3	chr7:129099938..129101762-chr7:129105861..129110289,3	K562	blood:
4	chr7:129102197..129105819-chr7:129107947..129111490,3	K562	blood:
5	chr7:129075846..129077779-chr7:129107169..129109635,2	MCF-7	breast:
6	chr7:129099938..129101762-chr7:129105861..129111774,4	K562	blood:
7	chr7:129106941..129109739-chr7:129249383..129251712,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000273329	Chromatin interaction
ENSG00000106459	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10500117	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10954233	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10954234	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12155142	0.87[EUR][1000 genomes]
rs12667232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12671604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34000750	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34794308	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34916100	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35131522	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35277123	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35544616	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4728165	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731578	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731580	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731581	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4731582	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4731583	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62489110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs753336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
2	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
3	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
4	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129076000-129110000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:129077400-129109400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:129080000-129128000	Weak transcription	HUVEC	blood vessel
4	chr7:129083800-129112800	Strong transcription	K562	blood
5	chr7:129089400-129110000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:129089600-129110200	Weak transcription	Brain Substantia Nigra	brain
7	chr7:129093200-129109400	Weak transcription	Fetal Thymus	thymus
8	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
9	chr7:129095200-129111800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:129095400-129109800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:129095400-129115000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:129096800-129110200	Weak transcription	Small Intestine	intestine
13	chr7:129096800-129112000	Weak transcription	GM12878-XiMat	blood
14	chr7:129097200-129110200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:129097600-129128600	Weak transcription	NH-A	brain
16	chr7:129100400-129113000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:129101000-129109400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:129101400-129109600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:129101600-129128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:129102200-129124600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:129102400-129120400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:129103000-129117400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
24	chr7:129103200-129110000	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:129103200-129129600	Weak transcription	Dnd41	blood
26	chr7:129103200-129135400	Weak transcription	HepG2	liver
27	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:129104400-129109600	Weak transcription	NHLF	lung
29	chr7:129104800-129109400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:129104800-129112000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:129104800-129121200	Weak transcription	Fetal Stomach	stomach
32	chr7:129105400-129127400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr7:129106600-129109400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:129106600-129121400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:129106800-129109600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:129107000-129110000	Weak transcription	Psoas Muscle	Psoas
37	chr7:129107000-129110800	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:129107000-129121600	Weak transcription	Right Ventricle	heart
39	chr7:129107400-129124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:129107600-129119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:129107800-129109400	Enhancers	NHEK	skin
42	chr7:129107800-129109600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:129108200-129109800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:129108400-129109600	Genic enhancers	Brain Anterior Caudate	brain
45	chr7:129108400-129110800	Enhancers	Placenta	Placenta
46	chr7:129108600-129110000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr7:129108600-129111200	Weak transcription	HMEC	breast
48	chr7:129108600-129111600	Weak transcription	NHDF-Ad	bronchial
49	chr7:129108800-129109400	Strong transcription	Fetal Heart	heart
50	chr7:129108800-129109400	Strong transcription	HSMM	muscle

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