Variant report

Variant	rs34883818
Chromosome Location	chr7:66095946-66095947
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66055516..66058509-chr7:66093670..66096346,2	MCF-7	breast:
2	chr7:66091898..66097382-chr7:66117985..66122507,10	K562	blood:

Variant related genes	Relation type
ENSG00000226824	Chromatin interaction
ENSG00000232559	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10229345	0.83[ASN][1000 genomes]
rs11766262	0.91[ASN][1000 genomes]
rs11771318	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11772636	0.91[ASN][1000 genomes]
rs34191148	0.89[EUR][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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv2761151	chr7:66095738-66138285	Flanking Active TSS Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs34883818	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs34883818	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs34883818	RP4-756H11.3	cis	lung	GTEx
rs34883818	RP4-756H11.3	cis	Thyroid	GTEx
rs34883818	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs34883818	RP4-756H11.3	cis	Artery Tibial	GTEx
rs34883818	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs34883818	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs34883818	RP4-756H11.3	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66094400-66097000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr7:66094400-66097200	Flanking Active TSS	GM12878-XiMat	blood
3	chr7:66094400-66103200	Weak transcription	Small Intestine	intestine
4	chr7:66094600-66097800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:66094800-66096200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr7:66094800-66096400	Enhancers	Primary B cells from cord blood	blood
7	chr7:66094800-66097000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:66094800-66097200	Enhancers	Fetal Thymus	thymus
9	chr7:66094800-66097600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:66094800-66097800	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:66094800-66098200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:66094800-66098400	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:66094800-66103400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:66095000-66096000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr7:66095000-66096000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:66095000-66096200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr7:66095000-66097000	Enhancers	Adipose Nuclei	Adipose
18	chr7:66095000-66097600	Enhancers	Dnd41	blood
19	chr7:66095000-66098000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:66095000-66098000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:66095000-66098200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:66095000-66098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:66095000-66098200	Weak transcription	Ovary	ovary
24	chr7:66095000-66098200	Weak transcription	HSMMtube	muscle
25	chr7:66095000-66098400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:66095000-66099200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:66095000-66099400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:66095000-66099400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:66095000-66099400	Weak transcription	Aorta	Aorta
30	chr7:66095000-66099600	Weak transcription	A549	lung
31	chr7:66095000-66101000	Weak transcription	NHEK	skin
32	chr7:66095000-66102400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:66095000-66103000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:66095000-66103000	Weak transcription	Fetal Kidney	kidney
35	chr7:66095000-66103000	Weak transcription	Fetal Lung	lung
36	chr7:66095000-66103200	Weak transcription	Psoas Muscle	Psoas
37	chr7:66095000-66103400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:66095000-66103400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:66095000-66103400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:66095000-66104200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:66095000-66108800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:66095000-66109000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:66095000-66115200	Weak transcription	HMEC	breast
44	chr7:66095200-66096000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr7:66095200-66096000	Enhancers	HepG2	liver
46	chr7:66095200-66096200	Enhancers	Primary T cells from cord blood	blood
47	chr7:66095200-66096200	Enhancers	Thymus	Thymus
48	chr7:66095200-66096200	Enhancers	NHLF	lung
49	chr7:66095200-66096800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:66095200-66096800	Enhancers	Osteobl	bone

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