Variant report

Variant	rs73704526
Chromosome Location	chr8:126099477-126099478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr8:126099340-126099599	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126097768..126101153-chr8:126102094..126105142,6	MCF-7	breast:
2	chr8:126093925..126097720-chr8:126099052..126104024,5	MCF-7	breast:
3	chr8:126094932..126099483-chr8:126100368..126105771,7	K562	blood:
4	chr8:126097682..126099676-chr8:126442452..126445308,2	MCF-7	breast:
5	chr8:126072198..126074417-chr8:126098170..126100467,2	MCF-7	breast:

No data

Variant related genes	Relation type
NSMCE2	TF binding region
KIAA0196	TF binding region
ENSG00000173334	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000164961	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10093770	1.00[EUR][1000 genomes]
rs10094264	1.00[EUR][1000 genomes]
rs11542889	0.98[EUR][1000 genomes]
rs11997328	1.00[EUR][1000 genomes]
rs16900178	1.00[EUR][1000 genomes]
rs16900217	0.95[EUR][1000 genomes]
rs28431161	1.00[EUR][1000 genomes]
rs28600176	1.00[EUR][1000 genomes]
rs28803012	0.95[EUR][1000 genomes]
rs56005734	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60909322	1.00[EUR][1000 genomes]
rs7007276	0.95[EUR][1000 genomes]
rs73704519	0.95[EUR][1000 genomes]
rs73704523	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704529	0.88[EUR][1000 genomes]
rs9940	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv465803	chr8:126068197-126132816	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
6	nsv612148	chr8:126068197-126132816	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:126046600-126099600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr8:126052800-126103200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:126064200-126102800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:126071800-126103000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126084000-126102400	Weak transcription	Fetal Heart	heart
7	chr8:126085400-126102400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:126085400-126102600	Weak transcription	Stomach Mucosa	stomach
9	chr8:126090800-126100200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:126090800-126102800	Weak transcription	Aorta	Aorta
11	chr8:126091000-126103000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:126091200-126102600	Weak transcription	Fetal Brain Male	brain
13	chr8:126091200-126102600	Weak transcription	NHLF	lung
14	chr8:126091200-126103000	Weak transcription	Esophagus	oesophagus
15	chr8:126091200-126103000	Weak transcription	Pancreas	Pancrea
16	chr8:126091200-126103200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:126091800-126101800	Weak transcription	Fetal Intestine Small	intestine
18	chr8:126091800-126103200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:126093000-126102800	Weak transcription	Small Intestine	intestine
20	chr8:126093000-126103000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:126093200-126101800	Weak transcription	K562	blood
22	chr8:126094000-126100800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:126094000-126101800	Weak transcription	Thymus	Thymus
24	chr8:126094000-126102200	Weak transcription	Fetal Brain Female	brain
25	chr8:126094000-126103000	Weak transcription	Lung	lung
26	chr8:126094000-126103000	Weak transcription	Right Ventricle	heart
27	chr8:126094200-126102400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:126094400-126100800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:126094400-126101400	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:126094400-126101800	Weak transcription	Brain Germinal Matrix	brain
31	chr8:126094400-126102600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:126094400-126102800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:126094400-126102800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:126094400-126102800	Weak transcription	HSMMtube	muscle
35	chr8:126094400-126103000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:126094400-126103000	Weak transcription	Left Ventricle	heart
37	chr8:126094400-126103000	Weak transcription	Ovary	ovary
38	chr8:126094600-126100400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:126094600-126100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:126094600-126101200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr8:126094600-126102400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:126094600-126102600	Weak transcription	A549	lung
43	chr8:126094600-126103000	Weak transcription	Colonic Mucosa	Colon
44	chr8:126094800-126102800	Weak transcription	NH-A	brain
45	chr8:126095000-126100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:126095000-126102600	Weak transcription	Fetal Kidney	kidney
47	chr8:126095000-126102600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:126095000-126102800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:126095000-126103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:126095200-126101000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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