Variant report

Variant	rs6434404
Chromosome Location	chr2:191494411-191494412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191492733..191495068-chr2:191507756..191510045,2	K562	blood:
2	chr2:191494274..191496899-chr2:191498728..191503014,5	MCF-7	breast:
3	chr2:191483604..191485287-chr2:191492044..191494653,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10204628	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10931459	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs10931460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10931464	0.82[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11673788	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs11675051	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11677333	0.87[ASN][1000 genomes]
rs11685221	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11686226	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11891641	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13005335	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2159821	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2159822	0.82[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34101385	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34109383	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34703964	0.88[ASN][1000 genomes]
rs34751744	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35954637	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3934784	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4324341	0.90[ASN][1000 genomes]
rs4343493	0.82[ASW][hapmap];0.88[JPT][hapmap]
rs4384819	0.95[ASN][1000 genomes]
rs4384820	0.95[ASN][1000 genomes]
rs4597559	0.82[ASW][hapmap];0.88[JPT][hapmap]
rs4638823	0.82[ASW][hapmap];0.88[JPT][hapmap]
rs55784091	0.80[EUR][1000 genomes]
rs55788736	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55884870	0.90[ASN][1000 genomes]
rs55901912	0.90[ASN][1000 genomes]
rs56094872	0.87[ASN][1000 genomes]
rs56337518	0.90[ASN][1000 genomes]
rs61730953	0.95[ASN][1000 genomes]
rs62181024	0.87[ASN][1000 genomes]
rs62181026	0.87[ASN][1000 genomes]
rs62181027	0.87[ASN][1000 genomes]
rs62181031	0.85[ASN][1000 genomes]
rs62181032	0.90[ASN][1000 genomes]
rs62181033	0.90[ASN][1000 genomes]
rs62181035	0.83[ASN][1000 genomes]
rs62181036	0.87[ASN][1000 genomes]
rs62181053	0.95[ASN][1000 genomes]
rs62181057	0.95[ASN][1000 genomes]
rs62182860	0.95[ASN][1000 genomes]
rs62182861	0.95[ASN][1000 genomes]
rs62182862	0.95[ASN][1000 genomes]
rs62182863	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62182864	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62182892	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62182893	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6714829	0.95[ASN][1000 genomes]
rs6719656	0.95[ASN][1000 genomes]
rs6727054	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6742904	1.00[YRI][hapmap]
rs6751217	0.83[ASN][1000 genomes]
rs6756354	0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs6757698	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs72907168	0.87[ASN][1000 genomes]
rs72911128	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7573621	0.87[ASN][1000 genomes]
rs7574871	0.95[ASN][1000 genomes]
rs7721	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6434404	MFSD6	cis	lymphoblastoid	seeQTL
rs6434404	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs6434404	FLJ20160	Cis_1M	lymphoblastoid	RTeQTL
rs6434404	ZC3H15	cis	cerebellum	SCAN
rs6434404	HIBCH	cis	lymphoblastoid	seeQTL
rs6434404	INPP1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191493000-191501000	Weak transcription	NH-A	brain
2	chr2:191493200-191497200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:191493200-191497200	Weak transcription	HMEC	breast
4	chr2:191493200-191501200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:191493200-191502800	Weak transcription	Right Ventricle	heart
6	chr2:191493400-191494800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:191493400-191496800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:191493400-191497600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:191493400-191501600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:191493400-191512600	Weak transcription	Psoas Muscle	Psoas
11	chr2:191493600-191501000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:191493600-191501600	Weak transcription	Fetal Stomach	stomach
13	chr2:191493800-191494800	Enhancers	Fetal Muscle Leg	muscle
14	chr2:191493800-191498400	Weak transcription	NHDF-Ad	bronchial
15	chr2:191493800-191499200	Weak transcription	Fetal Heart	heart
16	chr2:191494000-191494800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:191494000-191495000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:191494000-191497000	Weak transcription	Stomach Mucosa	stomach
19	chr2:191494000-191497600	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:191494000-191499200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:191494000-191499400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:191494000-191499400	Weak transcription	A549	lung
23	chr2:191494000-191499600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:191494000-191499600	Weak transcription	Brain Substantia Nigra	brain
25	chr2:191494000-191502000	Weak transcription	Right Atrium	heart
26	chr2:191494200-191495000	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links