Variant report

Variant	rs1095966
Chromosome Location	chr2:74419387-74419388
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74406333..74407923-chr2:74418887..74421012,2	MCF-7	breast:
2	chr2:74414483..74421164-chr2:74423918..74427310,9	MCF-7	breast:
3	chr2:74405127..74407896-chr2:74418355..74421991,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114978	Chromatin interaction
ENSG00000065911	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	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1095967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12469365	0.87[EUR][1000 genomes]
rs1667600	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1667610	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667627	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3108163	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3108165	0.87[EUR][1000 genomes]
rs4630794	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs702465	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828852	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs828860	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs828861	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs828875	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs828887	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828891	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828893	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844169	0.92[EUR][1000 genomes]
rs860455	0.87[EUR][1000 genomes];0.95[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
rs1095966	MOBK1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74409200-74419800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:74415600-74419400	Weak transcription	K562	blood
3	chr2:74415600-74425200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:74415600-74425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:74415800-74419400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:74415800-74419600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:74417200-74425000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:74417600-74425200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:74418200-74419800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:74418400-74419400	Enhancers	Pancreas	Pancrea
11	chr2:74418800-74419800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:74418800-74420000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:74418800-74420000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:74418800-74420400	Enhancers	HepG2	liver
15	chr2:74419000-74419600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:74419000-74419600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:74419000-74419600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:74419000-74420400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:74419200-74419400	Weak transcription	Fetal Thymus	thymus
20	chr2:74419200-74420400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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