Variant report

Variant	rs8076347
Chromosome Location	chr17:37977541-37977542
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs12709364	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12937330	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12938117	1.00[EUR][1000 genomes]
rs12938617	0.96[EUR][1000 genomes]
rs12938749	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12940616	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942660	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12943633	1.00[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes]
rs12945253	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946040	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946188	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946792	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947480	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12952146	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13313561	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13313564	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13313573	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380871	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1453560	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1510475	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965367	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17676923	0.83[EUR][1000 genomes]
rs2313429	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28392589	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28403951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28449671	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28535471	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537796	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28580691	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621669	1.00[EUR][1000 genomes]
rs28648398	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661421	1.00[EUR][1000 genomes]
rs28695941	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723017	1.00[EUR][1000 genomes]
rs28842324	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28880017	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28896477	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941509	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3169572	1.00[CEU][hapmap]
rs34016964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34053394	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34291217	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34344462	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34485135	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34518282	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34582264	0.88[EUR][1000 genomes]
rs34599546	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34640000	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34654193	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34758895	0.92[EUR][1000 genomes]
rs34864615	0.96[EUR][1000 genomes]
rs34925681	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34988504	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35088469	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35105110	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35130019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35336365	0.86[EUR][1000 genomes]
rs35352075	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35397078	0.88[EUR][1000 genomes]
rs35405174	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506518	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35938199	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36097841	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4252609	1.00[CHD][hapmap]
rs4252665	1.00[MEX][hapmap]
rs4337325	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4622539	1.00[EUR][1000 genomes]
rs56928975	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58075375	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66763967	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67135646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67571561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67600807	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67605703	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369791	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369792	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224641	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302152	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73304123	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7503018	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8067523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068125	1.00[EUR][1000 genomes]
rs8068894	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069531	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069893	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8072612	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078409	0.88[EUR][1000 genomes]
rs8079075	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9652838	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9652840	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9891131	1.00[MEX][hapmap]
rs9892781	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894370	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9894680	1.00[EUR][1000 genomes]
rs9894898	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9896940	1.00[MEX][hapmap]
rs9898031	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898464	1.00[EUR][1000 genomes]
rs9899006	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9899336	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899345	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900019	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900538	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9900541	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901483	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901617	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901917	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9902621	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904277	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904834	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9905881	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907096	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9907291	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907564	1.00[EUR][1000 genomes]
rs9907794	1.00[EUR][1000 genomes]
rs9907966	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9907988	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9908694	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908983	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909432	0.89[EUR][1000 genomes]
rs9910678	1.00[MEX][hapmap]
rs9911069	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911634	1.00[ASW][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911669	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911688	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912095	1.00[EUR][1000 genomes]
rs9913044	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9913596	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913769	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913957	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914302	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914516	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9914665	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914757	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9915509	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9915797	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs9916259	1.00[CEU][hapmap];1.00[EUR][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	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv1795575	chr17:37974075-38041762	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8076347	SEMA3C	trans	brain	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37970400-37978600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr17:37970600-37977600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr17:37973200-37978200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr17:37973400-37978400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:37973800-37977600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:37973800-37978400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr17:37973800-37979200	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr17:37974000-37977800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr17:37974600-37978400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr17:37974600-37978400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:37975200-37978800	Genic enhancers	Primary B cells from cord blood	blood
12	chr17:37975400-37978200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr17:37975800-37978600	Enhancers	Primary T cells from cord blood	blood
14	chr17:37975800-37978600	Weak transcription	Thymus	Thymus
15	chr17:37975800-37979400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:37976400-37978800	Genic enhancers	GM12878-XiMat	blood
17	chr17:37976600-37979800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:37976800-37978400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr17:37977000-37978400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:37977200-37977600	Genic enhancers	Fetal Thymus	thymus
21	chr17:37977400-37977800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:37977400-37978400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:37977400-37978400	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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