Variant report

Variant	rs10931464
Chromosome Location	chr2:191471608-191471609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191398577..191400823-chr2:191470915..191472989,2	MCF-7	breast:
2	chr2:191398808..191400464-chr2:191469531..191472101,2	K562	blood:
3	chr2:191469811..191472994-chr2:191510666..191514604,3	K562	blood:
4	chr2:191398124..191401338-chr2:191468460..191472195,4	K562	blood:

Variant related genes	Relation type
ENSG00000138386	Chromatin interaction
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10204628	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931455	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10931459	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931460	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11673788	0.82[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11673921	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11675051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677333	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11685221	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11686226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891641	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs13005335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159821	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2159822	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34101385	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34109383	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34703964	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34751744	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35954637	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934784	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4324341	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4343493	0.86[CEU][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4384819	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4384820	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4597559	0.86[CEU][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4638823	0.86[CEU][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55784091	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55788736	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55884870	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55901912	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55918914	0.80[EUR][1000 genomes]
rs56094872	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56337518	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61730953	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61743479	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62181001	0.83[EUR][1000 genomes]
rs62181002	0.83[EUR][1000 genomes]
rs62181014	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62181015	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62181017	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62181024	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181026	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181027	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181031	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62181032	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181033	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181036	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181053	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62181057	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182860	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182861	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182862	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182863	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182864	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182892	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182893	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434404	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6707836	0.80[EUR][1000 genomes]
rs6708018	0.80[EUR][1000 genomes]
rs6714829	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6719656	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6727054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742904	0.89[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6756354	0.83[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6757698	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72905231	0.83[EUR][1000 genomes]
rs72905290	0.85[EUR][1000 genomes]
rs72907168	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72911128	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7573621	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7574871	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7721	0.82[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[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
rs10931464	INPP1	cis	cerebellum	SCAN
rs10931464	INPP1	cis	parietal	SCAN
rs10931464	MFSD6	cis	lymphoblastoid	seeQTL
rs10931464	ZC3H15	cis	cerebellum	SCAN
rs10931464	HIBCH	cis	lymphoblastoid	seeQTL
rs10931464	FLJ20160	cis	multi-tissue	Pritchard

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
2	chr2:191464800-191471800	Weak transcription	Right Atrium	heart
3	chr2:191464800-191472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:191465000-191471800	Weak transcription	Right Ventricle	heart
5	chr2:191468000-191473200	Enhancers	Fetal Heart	heart
6	chr2:191469400-191472200	Weak transcription	Brain Anterior Caudate	brain
7	chr2:191469400-191472200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:191469400-191472600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:191469600-191472600	Weak transcription	Brain Angular Gyrus	brain
10	chr2:191470400-191472200	Enhancers	GM12878-XiMat	blood
11	chr2:191470400-191473800	Enhancers	K562	blood
12	chr2:191470400-191480400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:191470600-191472600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:191470600-191472600	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:191470600-191473400	Enhancers	HMEC	breast
16	chr2:191470800-191472400	Flanking Active TSS	Hela-S3	cervix
17	chr2:191470800-191473000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:191471600-191471800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:191471600-191471800	Enhancers	Psoas Muscle	Psoas
20	chr2:191471600-191471800	Flanking Active TSS	NH-A	brain
21	chr2:191471600-191471800	Enhancers	NHDF-Ad	bronchial
22	chr2:191471600-191472000	Enhancers	Fetal Lung	lung
23	chr2:191471600-191472000	Enhancers	Fetal Stomach	stomach
24	chr2:191471600-191472000	Enhancers	NHLF	lung
25	chr2:191471600-191472000	Flanking Active TSS	Osteobl	bone
26	chr2:191471600-191472200	Enhancers	Fetal Muscle Leg	muscle
27	chr2:191471600-191472400	Flanking Active TSS	A549	lung
28	chr2:191471600-191472600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:191471600-191472600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:191471600-191472600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:191471600-191472600	Enhancers	HSMMtube	muscle
32	chr2:191471600-191472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:191471600-191473000	Enhancers	HSMM	muscle
34	chr2:191471600-191473200	Enhancers	Muscle Satellite Cultured Cells	--

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