Variant report

Variant	rs8079075
Chromosome Location	chr17:38010815-38010816
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	chr17:38009036..38011369-chr17:38074696..38077048,2	K562	blood:

Variant related genes	Relation type
ENSG00000073605	Chromatin interaction

Extended variants
information (count: 152 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs12709364	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12937330	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12938117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12938617	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12938749	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12939306	0.84[YRI][hapmap]
rs12940616	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942660	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12943472	0.83[YRI][hapmap]
rs12943633	1.00[TSI][hapmap]
rs12945253	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946040	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946188	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946792	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947480	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12950066	0.84[YRI][hapmap]
rs12952146	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13313561	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13313564	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13313573	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380871	1.00[EUR][1000 genomes]
rs1453560	1.00[CEU][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1510475	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965367	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17676923	0.83[EUR][1000 genomes]
rs2313429	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs28392589	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28403951	1.00[EUR][1000 genomes]
rs28449671	1.00[EUR][1000 genomes]
rs28535471	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537796	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28580691	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648398	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651240	0.81[AFR][1000 genomes]
rs28661421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28695941	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28842324	1.00[EUR][1000 genomes]
rs28880017	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28896477	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941509	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3169572	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs34016964	1.00[EUR][1000 genomes]
rs34053394	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34291217	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34344462	1.00[EUR][1000 genomes]
rs34485135	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34518282	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34582264	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34599546	1.00[EUR][1000 genomes]
rs34640000	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34654193	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34758895	0.92[EUR][1000 genomes]
rs34864615	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs34925681	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34988504	1.00[EUR][1000 genomes]
rs35088469	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35105110	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35130019	0.96[EUR][1000 genomes]
rs35336365	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35352075	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35397078	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35405174	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506518	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35770042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35938199	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36097841	1.00[EUR][1000 genomes]
rs4252665	1.00[MEX][hapmap]
rs4337325	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4622539	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56928975	0.96[EUR][1000 genomes]
rs58075375	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66763967	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67135646	1.00[EUR][1000 genomes]
rs67571561	1.00[EUR][1000 genomes]
rs67600807	1.00[EUR][1000 genomes]
rs67605703	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369788	1.00[EUR][1000 genomes]
rs71369791	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369792	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211998	1.00[EUR][1000 genomes]
rs7217133	1.00[EUR][1000 genomes]
rs7224641	1.00[EUR][1000 genomes]
rs73302152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73304123	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7503018	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8067523	1.00[EUR][1000 genomes]
rs8068125	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068894	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069531	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069893	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8072612	1.00[EUR][1000 genomes]
rs8076347	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8078409	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9652838	0.96[EUR][1000 genomes]
rs9652840	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9891131	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9892781	1.00[EUR][1000 genomes]
rs9894370	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9894680	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9894898	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9896940	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs9898031	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898464	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9899006	1.00[EUR][1000 genomes]
rs9899336	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899345	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9900019	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900538	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900541	1.00[EUR][1000 genomes]
rs9901483	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9901617	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901917	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9902621	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904277	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904834	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9905881	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907096	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907291	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907794	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907966	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907988	0.96[EUR][1000 genomes]
rs9908694	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9908983	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909365	1.00[EUR][1000 genomes]
rs9909432	0.89[EUR][1000 genomes]
rs9910678	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs9911069	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911634	1.00[EUR][1000 genomes]
rs9911669	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911688	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913044	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9913596	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913769	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913795	1.00[EUR][1000 genomes]
rs9913957	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914302	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914516	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs9914665	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914757	0.96[EUR][1000 genomes]
rs9915509	1.00[CEU][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9915797	0.92[EUR][1000 genomes]
rs9916259	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9916369	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs9941360	0.86[ASW][hapmap];0.92[YRI][hapmap]
rs9941391	0.84[ASW][hapmap]

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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8079075	HBG2	trans	brain	seeQTL
rs8079075	TGFBR3	trans	brain	seeQTL
rs8079075	ENPP6	trans	brain	seeQTL
rs8079075	FGL2	trans	brain	seeQTL
rs8079075	RPA2	trans	brain	seeQTL
rs8079075	HBG1	trans	brain	seeQTL
rs8079075	SEMA3C	trans	brain	seeQTL
rs8079075	SLC47A1	trans	brain	seeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38000800-38017400	Weak transcription	Thymus	Thymus
2	chr17:38004400-38016800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:38005200-38014200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr17:38006200-38017400	Weak transcription	Fetal Thymus	thymus
5	chr17:38007200-38016600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr17:38008400-38012800	Genic enhancers	Primary B cells from cord blood	blood
7	chr17:38009000-38016800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:38009200-38016200	Weak transcription	Primary T cells from cord blood	blood
9	chr17:38009600-38011000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:38009600-38011200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:38009600-38011200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:38009600-38011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr17:38010000-38011800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr17:38010200-38012600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:38010400-38012000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:38010600-38012000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
17	chr17:38010600-38012600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr17:38010600-38013400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr17:38010800-38011000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr17:38010800-38011800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr17:38010800-38012000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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