Variant report

Variant	rs2865986
Chromosome Location	chr4:99067907-99067908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99066128..99069024-chr4:99180594..99183920,3	MCF-7	breast:
2	chr4:99062262..99068404-chr4:99178848..99183768,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214559	Chromatin interaction
ENSG00000138698	Chromatin interaction

Extended variants
information (count: 235 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:224)

rs_ID	r²[population]
rs10000573	1.00[ASN][1000 genomes]
rs10004827	1.00[ASN][1000 genomes]
rs10005118	1.00[ASN][1000 genomes]
rs10005120	1.00[ASN][1000 genomes]
rs10007872	0.97[ASN][1000 genomes]
rs10009206	1.00[ASN][1000 genomes]
rs10012003	1.00[ASN][1000 genomes]
rs10012167	1.00[ASN][1000 genomes]
rs10012271	1.00[ASN][1000 genomes]
rs10017530	0.90[ASN][1000 genomes]
rs10018654	0.97[ASN][1000 genomes]
rs10021044	0.97[ASN][1000 genomes]
rs10025364	0.89[ASN][1000 genomes]
rs10025651	0.83[ASN][1000 genomes]
rs10029849	1.00[ASN][1000 genomes]
rs10031292	1.00[ASN][1000 genomes]
rs10033994	0.94[ASN][1000 genomes]
rs10034330	1.00[ASN][1000 genomes]
rs10034619	0.94[ASN][1000 genomes]
rs10049627	0.98[ASN][1000 genomes]
rs10050008	0.98[ASN][1000 genomes]
rs11097592	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11097614	1.00[CHB][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs11097615	0.96[ASN][1000 genomes]
rs1111541	0.98[ASN][1000 genomes]
rs11721453	1.00[ASN][1000 genomes]
rs11726758	0.98[ASN][1000 genomes]
rs11727653	0.97[ASN][1000 genomes]
rs11729596	1.00[ASN][1000 genomes]
rs11729640	1.00[ASN][1000 genomes]
rs11735105	0.91[ASN][1000 genomes]
rs11932887	1.00[ASN][1000 genomes]
rs11932942	0.97[ASN][1000 genomes]
rs11941885	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11941961	1.00[ASN][1000 genomes]
rs11942114	1.00[ASN][1000 genomes]
rs11944855	1.00[ASN][1000 genomes]
rs13102369	1.00[ASN][1000 genomes]
rs13108422	1.00[ASN][1000 genomes]
rs13108535	1.00[ASN][1000 genomes]
rs13108868	0.86[CHB][hapmap]
rs13110418	0.97[ASN][1000 genomes]
rs13115356	0.89[ASN][1000 genomes]
rs13118892	0.81[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs13118945	0.81[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs13121558	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs13121766	0.89[ASN][1000 genomes]
rs13122456	0.89[ASN][1000 genomes]
rs13122897	0.89[ASN][1000 genomes]
rs13127542	0.92[ASN][1000 genomes]
rs13130923	1.00[ASN][1000 genomes]
rs13131962	1.00[ASN][1000 genomes]
rs13132395	0.97[ASN][1000 genomes]
rs13133619	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13136721	1.00[CHB][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs13136930	0.91[ASN][1000 genomes]
rs13137152	0.91[ASN][1000 genomes]
rs13137808	0.98[ASN][1000 genomes]
rs13137859	1.00[ASN][1000 genomes]
rs13138051	1.00[ASN][1000 genomes]
rs13138059	1.00[ASN][1000 genomes]
rs13138063	1.00[ASN][1000 genomes]
rs13138438	1.00[ASN][1000 genomes]
rs13146909	0.89[ASN][1000 genomes]
rs13147921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13149404	1.00[ASN][1000 genomes]
rs13149968	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[ASN][1000 genomes]
rs1349757	1.00[ASN][1000 genomes]
rs1426666	0.98[ASN][1000 genomes]
rs1527515	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1527516	0.81[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs1534319	0.83[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap]
rs17027308	1.00[CHB][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs17484890	0.98[ASN][1000 genomes]
rs17484966	0.98[ASN][1000 genomes]
rs17486413	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17549003	0.94[ASN][1000 genomes]
rs17550217	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17550735	0.98[ASN][1000 genomes]
rs17558151	1.00[ASN][1000 genomes]
rs17558193	1.00[ASN][1000 genomes]
rs1834648	0.85[ASN][1000 genomes]
rs2114426	0.89[ASN][1000 genomes]
rs2167892	1.00[ASN][1000 genomes]
rs2839836	0.94[ASN][1000 genomes]
rs28415600	0.95[ASN][1000 genomes]
rs28485415	1.00[ASN][1000 genomes]
rs2865981	0.98[ASN][1000 genomes]
rs2865982	0.98[ASN][1000 genomes]
rs2865983	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2865985	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2865987	1.00[ASN][1000 genomes]
rs2865988	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2865989	1.00[ASN][1000 genomes]
rs2865990	0.85[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[ASN][1000 genomes]
rs2865991	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2865993	1.00[ASN][1000 genomes]
rs28729647	1.00[ASN][1000 genomes]
rs28758886	1.00[ASN][1000 genomes]
rs28791018	0.83[ASN][1000 genomes]
rs28792413	0.96[ASN][1000 genomes]
rs2903152	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2903154	1.00[ASN][1000 genomes]
rs34164616	0.98[ASN][1000 genomes]
rs34212748	1.00[ASN][1000 genomes]
rs34313689	0.98[ASN][1000 genomes]
rs34423396	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34509663	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34528953	0.89[ASN][1000 genomes]
rs34870112	1.00[ASN][1000 genomes]
rs34892904	0.91[ASN][1000 genomes]
rs35235971	0.97[ASN][1000 genomes]
rs35276471	1.00[ASN][1000 genomes]
rs35433756	1.00[ASN][1000 genomes]
rs35436270	0.96[ASN][1000 genomes]
rs35491210	0.97[ASN][1000 genomes]
rs35531558	0.91[ASN][1000 genomes]
rs35560671	1.00[ASN][1000 genomes]
rs35721906	0.89[ASN][1000 genomes]
rs35752787	0.89[ASN][1000 genomes]
rs35865860	0.94[ASN][1000 genomes]
rs35951881	0.97[ASN][1000 genomes]
rs36028444	0.94[ASN][1000 genomes]
rs3846443	0.98[ASN][1000 genomes]
rs3846444	0.98[ASN][1000 genomes]
rs3846445	0.98[ASN][1000 genomes]
rs3857216	0.98[ASN][1000 genomes]
rs3857217	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs3896704	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3911282	1.00[ASN][1000 genomes]
rs4334758	0.94[ASN][1000 genomes]
rs4345191	0.80[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs4443293	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4699324	0.84[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs4699326	1.00[ASN][1000 genomes]
rs4699327	0.95[ASN][1000 genomes]
rs4699331	1.00[ASN][1000 genomes]
rs4699595	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs4699596	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4699601	0.98[ASN][1000 genomes]
rs4699602	0.98[ASN][1000 genomes]
rs4699605	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58367603	0.98[ASN][1000 genomes]
rs59751489	0.87[ASN][1000 genomes]
rs60028147	0.88[ASN][1000 genomes]
rs60391193	0.89[ASN][1000 genomes]
rs60994860	1.00[ASN][1000 genomes]
rs62318502	0.89[ASN][1000 genomes]
rs62318503	0.89[ASN][1000 genomes]
rs62318504	0.88[ASN][1000 genomes]
rs62318940	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62321592	0.97[ASN][1000 genomes]
rs62321597	0.98[ASN][1000 genomes]
rs62321598	0.98[ASN][1000 genomes]
rs6532721	1.00[ASN][1000 genomes]
rs6532724	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6532725	1.00[ASN][1000 genomes]
rs6814353	0.97[ASN][1000 genomes]
rs6815312	0.98[ASN][1000 genomes]
rs6817645	0.98[ASN][1000 genomes]
rs6818045	1.00[ASN][1000 genomes]
rs6823718	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6827474	0.96[ASN][1000 genomes]
rs6827516	0.94[ASN][1000 genomes]
rs6828752	1.00[ASN][1000 genomes]
rs6829567	1.00[ASN][1000 genomes]
rs6831925	0.92[ASN][1000 genomes]
rs6839277	0.98[ASN][1000 genomes]
rs6839454	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs6840669	0.98[ASN][1000 genomes]
rs6848786	0.92[ASN][1000 genomes]
rs6853266	1.00[ASN][1000 genomes]
rs6853608	1.00[ASN][1000 genomes]
rs6854594	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6854902	0.98[ASN][1000 genomes]
rs6854919	0.81[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs6855393	0.98[ASN][1000 genomes]
rs7377018	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs7656233	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs7657179	0.92[ASN][1000 genomes]
rs7657644	1.00[ASN][1000 genomes]
rs7659006	0.89[ASN][1000 genomes]
rs7659593	0.89[ASN][1000 genomes]
rs7659801	0.87[ASN][1000 genomes]
rs7663438	1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs7663661	0.98[ASN][1000 genomes]
rs7663924	1.00[ASN][1000 genomes]
rs7664169	1.00[ASN][1000 genomes]
rs7664305	0.99[ASN][1000 genomes]
rs7664340	1.00[ASN][1000 genomes]
rs7666738	0.96[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7667796	1.00[ASN][1000 genomes]
rs7672127	0.90[ASN][1000 genomes]
rs7672720	0.91[ASN][1000 genomes]
rs7672901	0.91[ASN][1000 genomes]
rs7673880	1.00[ASN][1000 genomes]
rs7674095	0.98[ASN][1000 genomes]
rs7678557	0.99[ASN][1000 genomes]
rs7678564	0.99[ASN][1000 genomes]
rs7678567	0.99[ASN][1000 genomes]
rs7678911	0.99[ASN][1000 genomes]
rs7679299	0.97[ASN][1000 genomes]
rs7680909	0.89[ASN][1000 genomes]
rs7682991	0.96[ASN][1000 genomes]
rs7683737	1.00[ASN][1000 genomes]
rs7684521	1.00[ASN][1000 genomes]
rs7684646	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7687958	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs7691433	0.80[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs7691864	0.94[ASN][1000 genomes]
rs7696686	0.91[ASN][1000 genomes]
rs7696715	0.91[ASN][1000 genomes]
rs7697315	0.91[ASN][1000 genomes]
rs880470	0.87[ASN][1000 genomes]
rs880471	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs880473	0.83[EUR][1000 genomes]
rs9992257	0.87[ASN][1000 genomes]
rs9992281	0.89[ASN][1000 genomes]
rs9992360	0.89[ASN][1000 genomes]
rs9992470	0.82[ASN][1000 genomes]
rs9994346	1.00[ASN][1000 genomes]
rs9994641	0.94[ASN][1000 genomes]
rs9998803	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs9999200	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002098	chr4:98501337-99086320	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv537193	chr4:98501337-99086320	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv879648	chr4:98547717-99104879	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1000011	chr4:98562308-99101692	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1000956	chr4:98732458-99178588	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv879650	chr4:99057457-99172232	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv998270	chr4:99063275-99120404	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv461595	chr4:99065480-99172175	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv594939	chr4:99065480-99172175	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2865986	MEMO1	cis	Frontal Cortex	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99065200-99069000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:99065200-99069400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:99065200-99069600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:99065200-99069600	Weak transcription	HSMM	muscle
5	chr4:99065200-99069600	Weak transcription	HUVEC	blood vessel
6	chr4:99065200-99069800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:99065200-99070000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:99065200-99070000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:99065400-99069200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:99065400-99069200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:99065400-99069600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:99065400-99069800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:99065400-99069800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:99065400-99070000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:99065400-99070000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:99065600-99069400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:99065600-99069800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:99065600-99069800	Weak transcription	Primary T cells from cord blood	blood
19	chr4:99065600-99070000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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