Variant report

Variant	rs4601330
Chromosome Location	chr8:126051786-126051787
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr8:126051492-126052342	SH-SY5Y	brain:	n/a	chr8:126052250-126052260
2	GATA3	chr8:126051334-126052286	SH-SY5Y	brain:	n/a	chr8:126052250-126052260
3	USF1	chr8:126051572-126051889	SK-N-SH_RA	brain:	n/a	n/a
4	EP300	chr8:126051023-126052518	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:126041136..126043369-chr8:126049940..126052730,2	MCF-7	breast:
2	chr8:125761135..125763441-chr8:126050388..126052207,2	K562	blood:
3	chr8:126049849..126052295-chr8:126053511..126055815,2	MCF-7	breast:

Variant related genes	Relation type
KIAA0196-AS1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12545690	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546048	1.00[ASN][1000 genomes]
rs60187894	1.00[ASN][1000 genomes]
rs60388854	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73339880	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr8:126028200-126072000	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:126028400-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:126028800-126072200	Strong transcription	Adipose Nuclei	Adipose
9	chr8:126029600-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:126031200-126058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:126038800-126097200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:126039400-126064400	Strong transcription	Primary T cells from cord blood	blood
15	chr8:126039400-126072000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr8:126039400-126091400	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:126039600-126052600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:126039600-126067200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:126039600-126071800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr8:126040200-126053600	Strong transcription	Spleen	Spleen
21	chr8:126040400-126064400	Strong transcription	Fetal Muscle Leg	muscle
22	chr8:126040400-126064600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:126042200-126052400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:126042200-126053200	Strong transcription	Thymus	Thymus
25	chr8:126042200-126084000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:126042400-126052400	Strong transcription	Left Ventricle	heart
27	chr8:126042400-126096800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:126042600-126052200	Weak transcription	Fetal Heart	heart
29	chr8:126042600-126064200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:126042600-126098600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:126042600-126098800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr8:126042800-126071800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:126042800-126072600	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr8:126042800-126084200	Strong transcription	Fetal Intestine Large	intestine
35	chr8:126043000-126075800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:126043000-126084000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:126043000-126096000	Strong transcription	Liver	Liver
38	chr8:126043000-126098000	Strong transcription	Fetal Thymus	thymus
39	chr8:126043200-126051800	Strong transcription	NHDF-Ad	bronchial
40	chr8:126043800-126075800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:126043800-126076400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:126043800-126082400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:126044000-126072200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:126044600-126055200	Weak transcription	HepG2	liver
45	chr8:126044600-126067600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:126044600-126071600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:126044800-126056200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:126044800-126071800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:126045200-126058400	Weak transcription	Stomach Mucosa	stomach
50	chr8:126045400-126056400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links