Variant report

Variant	rs34000750
Chromosome Location	chr7:129128441-129128442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129123601..129126259-chr7:129127916..129129558,2	K562	blood:
2	chr7:129127885..129129697-chr7:129250080..129251995,2	MCF-7	breast:
3	chr7:129128173..129130689-chr7:129136182..129137829,2	K562	blood:
4	chr7:129128271..129130546-chr7:129249994..129251580,2	K562	blood:
5	chr7:129127657..129130703-chr7:129131027..129133692,4	K562	blood:

Variant related genes	Relation type
ENSG00000106459	Chromatin interaction
ENSG00000273329	Chromatin interaction
ENSG00000199846	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10500117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10954233	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10954234	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12155142	0.91[EUR][1000 genomes]
rs12667232	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12671604	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305326	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34794308	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34916100	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35131522	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35277123	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35544616	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4728165	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4731578	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4731579	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4731580	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731581	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4731582	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731583	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62489110	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6943021	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs753336	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs966481	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129093400-129134800	Weak transcription	Right Atrium	heart
2	chr7:129097600-129128600	Weak transcription	NH-A	brain
3	chr7:129101600-129128600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
5	chr7:129103200-129129600	Weak transcription	Dnd41	blood
6	chr7:129103200-129135400	Weak transcription	HepG2	liver
7	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:129108800-129128600	Weak transcription	Osteobl	bone
9	chr7:129111800-129128800	Weak transcription	HSMM	muscle
10	chr7:129112200-129129000	Weak transcription	NHDF-Ad	bronchial
11	chr7:129112200-129134600	Weak transcription	Fetal Heart	heart
12	chr7:129120000-129129600	Weak transcription	Small Intestine	intestine
13	chr7:129120800-129130000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:129121200-129129200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:129121200-129130800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:129121600-129129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:129121600-129129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:129121600-129132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:129121800-129129200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
21	chr7:129124000-129137200	Weak transcription	Esophagus	oesophagus
22	chr7:129124400-129128800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:129124400-129132000	Weak transcription	Psoas Muscle	Psoas
24	chr7:129126000-129129400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:129126000-129129800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:129126000-129129800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:129126000-129131200	Weak transcription	Left Ventricle	heart
28	chr7:129126000-129133400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:129126000-129136600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:129126200-129128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:129126200-129129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:129126200-129133000	Weak transcription	NHEK	skin
33	chr7:129126400-129128800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:129126400-129133000	Weak transcription	Brain Anterior Caudate	brain
35	chr7:129127000-129130000	Strong transcription	K562	blood
36	chr7:129127400-129129400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:129127800-129133400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:129128000-129133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:129128000-129133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links