Variant report

Variant	rs9845382
Chromosome Location	chr3:46111759-46111760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46104564..46106749-chr3:46109061..46111797,3	K562	blood:
2	chr3:46106956..46110561-chr3:46110945..46113902,3	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs12108042	0.82[EUR][1000 genomes]
rs13060287	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13063527	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13063635	0.82[EUR][1000 genomes]
rs13066062	0.83[EUR][1000 genomes]
rs13068410	0.82[EUR][1000 genomes]
rs13068570	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13069079	1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[EUR][1000 genomes]
rs13069742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071283	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13072267	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074382	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13075528	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13075758	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13078739	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[EUR][1000 genomes]
rs13079869	1.00[CEU][hapmap];0.95[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs13081151	0.93[EUR][1000 genomes]
rs13081213	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13082697	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13085367	0.82[EUR][1000 genomes]
rs13089554	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13089855	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13090194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13091868	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13093179	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13094262	0.82[EUR][1000 genomes]
rs13095602	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13095717	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13096741	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097556	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13098366	1.00[ASN][1000 genomes]
rs13433997	0.88[EUR][1000 genomes]
rs1491950	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1491951	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17214952	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[EUR][1000 genomes]
rs17215008	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17215981	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17280623	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17282175	0.82[EUR][1000 genomes]
rs17330872	1.00[CEU][hapmap];0.97[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs17714101	0.89[CEU][hapmap]
rs17714228	0.89[CEU][hapmap]
rs17764831	0.89[CEU][hapmap]
rs17764980	0.89[CEU][hapmap]
rs1994491	0.89[CEU][hapmap]
rs2088690	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2088692	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2088693	0.82[EUR][1000 genomes]
rs2102055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2102056	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2171531	0.80[EUR][1000 genomes]
rs2230322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs33910087	0.83[EUR][1000 genomes]
rs34000569	0.82[EUR][1000 genomes]
rs34047915	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34093271	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34127208	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34168660	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34283240	0.89[EUR][1000 genomes]
rs34324101	0.82[EUR][1000 genomes]
rs34339943	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34340587	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34381952	0.81[EUR][1000 genomes]
rs34438204	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34442130	0.85[EUR][1000 genomes]
rs34452002	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34460587	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34492478	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34493660	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34562820	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34584867	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34619093	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34679077	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34718164	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34754340	0.89[EUR][1000 genomes]
rs34766614	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34774687	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34836513	0.89[EUR][1000 genomes]
rs34849862	0.82[EUR][1000 genomes]
rs34863575	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34867672	0.82[EUR][1000 genomes]
rs34924300	0.80[EUR][1000 genomes]
rs35028116	0.82[EUR][1000 genomes]
rs35110864	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35159820	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35161099	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35209528	0.82[EUR][1000 genomes]
rs35334665	0.93[EUR][1000 genomes]
rs35454877	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35464221	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35501575	0.82[EUR][1000 genomes]
rs35516580	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35525815	0.82[EUR][1000 genomes]
rs35539222	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35581648	0.80[EUR][1000 genomes]
rs35669129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35751180	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35772789	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35814488	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35827997	0.81[EUR][1000 genomes]
rs35855315	0.82[EUR][1000 genomes]
rs35883205	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35921206	0.94[EUR][1000 genomes]
rs35930050	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35951367	1.00[ASN][1000 genomes]
rs36023124	0.89[EUR][1000 genomes]
rs36039366	0.81[EUR][1000 genomes]
rs36040135	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36057789	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36122610	0.85[EUR][1000 genomes]
rs3851346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41289616	0.81[EUR][1000 genomes]
rs41289622	0.83[EUR][1000 genomes]
rs4362758	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4373103	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4388012	1.00[CEU][hapmap];0.90[GIH][hapmap];0.81[EUR][1000 genomes]
rs4683166	0.82[EUR][1000 genomes]
rs55875328	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56332428	0.81[EUR][1000 genomes]
rs60019065	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61556067	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61650989	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67200151	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6780028	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6785091	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6790866	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6791016	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67937868	0.90[EUR][1000 genomes]
rs68087193	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71325095	0.81[EUR][1000 genomes]
rs71325096	0.82[EUR][1000 genomes]
rs71325098	0.83[EUR][1000 genomes]
rs71325100	0.83[EUR][1000 genomes]
rs71325101	0.81[EUR][1000 genomes]
rs71325102	0.82[EUR][1000 genomes]
rs71327003	0.89[EUR][1000 genomes]
rs71327006	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71327007	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71327009	0.93[EUR][1000 genomes]
rs71327010	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71327014	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327015	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327017	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327021	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71327023	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71327024	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71327025	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71327027	0.82[EUR][1000 genomes]
rs71615438	0.89[EUR][1000 genomes]
rs7642229	0.80[EUR][1000 genomes]
rs7642320	0.82[EUR][1000 genomes]
rs7652478	0.82[EUR][1000 genomes]
rs876668	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9824651	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9825081	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838450	0.94[ASN][1000 genomes]
rs9845542	1.00[ASN][1000 genomes]
rs9877748	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9845382	PTPN23	cis	parietal	SCAN
rs9845382	LIMD1	cis	parietal	SCAN
rs9845382	TDGF1	cis	parietal	SCAN
rs9845382	CDC25A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46103400-46113600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr3:46103800-46113200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr3:46103800-46114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr3:46104000-46113400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr3:46104200-46113600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:46104400-46111800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:46104600-46114000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:46107400-46113800	Enhancers	Primary T cells from cord blood	blood
9	chr3:46107600-46112200	Weak transcription	GM12878-XiMat	blood
10	chr3:46107600-46112800	Enhancers	Dnd41	blood
11	chr3:46107600-46114200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:46108200-46112000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:46109800-46112200	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr3:46109800-46112400	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr3:46110200-46112000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:46110400-46112200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:46111000-46112000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr3:46111000-46112800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:46111600-46113600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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