Variant report

Variant	rs4630794
Chromosome Location	chr2:74408338-74408339
allele	A/G
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	ZNF384	chr2:74408271-74408380	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74373512..74376720-chr2:74404630..74408955,6	K562	blood:
2	chr2:74401100..74409624-chr2:74423713..74427389,30	MCF-7	breast:
3	chr2:74345913..74348944-chr2:74407962..74411095,3	K562	blood:
4	chr2:74405353..74407488-chr2:74407516..74409638,2	MCF-7	breast:

Variant related genes	Relation type
MOB1A	TF binding region
ENSG00000065911	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000114978	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000225439	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1056528	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1095966	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1095967	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12469365	0.84[EUR][1000 genomes]
rs1667600	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1667610	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667627	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108163	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108165	0.84[EUR][1000 genomes]
rs702465	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs828852	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs828860	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs828861	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs828875	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828887	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828891	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828893	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844169	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs860455	0.85[EUR][1000 genomes];0.96[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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4630794	MOBK1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74406000-74408800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:74406000-74408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:74406200-74409000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:74406400-74408800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:74406600-74408600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:74406600-74408600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:74406600-74408800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:74406600-74408800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:74406600-74408800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:74406600-74408800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:74406600-74408800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:74406600-74408800	Weak transcription	Fetal Brain Male	brain
13	chr2:74406600-74409000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:74406600-74409000	Weak transcription	NHDF-Ad	bronchial
15	chr2:74406600-74412400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:74406600-74412600	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:74406600-74414800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:74406800-74408400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:74406800-74408600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:74406800-74408600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:74406800-74408600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:74406800-74408600	Enhancers	Primary B cells from cord blood	blood
23	chr2:74406800-74408600	Enhancers	GM12878-XiMat	blood
24	chr2:74406800-74408600	Weak transcription	HepG2	liver
25	chr2:74406800-74408800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:74406800-74408800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:74406800-74409000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:74406800-74409000	Weak transcription	A549	lung
29	chr2:74406800-74409000	Weak transcription	Hela-S3	cervix
30	chr2:74406800-74409400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:74407200-74409400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:74407200-74415200	Weak transcription	Placenta	Placenta
33	chr2:74407400-74408600	Enhancers	K562	blood
34	chr2:74408000-74409600	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:74408200-74408400	Enhancers	Fetal Muscle Leg	muscle
36	chr2:74408200-74408600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:74408200-74409200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:74408200-74409400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr2:74408200-74409800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:74408200-74409800	Enhancers	Fetal Thymus	thymus

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