Variant report

Variant	rs12940616
Chromosome Location	chr17:37979780-37979781
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	chr17:37978424..37980112-chr17:38107868..38109558,2	K562	blood:

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs12709364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12937330	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12938117	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12938617	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12938749	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12942660	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12945253	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946040	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946188	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946792	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947480	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12948686	0.81[AFR][1000 genomes]
rs12950662	0.84[AFR][1000 genomes]
rs12952146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13313561	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13313564	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13313573	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380871	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1453560	0.96[EUR][1000 genomes]
rs1510475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16965367	1.00[EUR][1000 genomes]
rs17676923	0.83[EUR][1000 genomes]
rs2313429	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28392589	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28403951	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28449671	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28535471	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537796	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28580691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28621669	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648398	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661421	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28695941	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723017	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28842324	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28880017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28896477	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2941509	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34016964	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34053394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34291217	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34344462	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34485135	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34518282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34582264	0.88[EUR][1000 genomes]
rs34599546	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34640000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34654193	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34758895	0.92[EUR][1000 genomes]
rs34864615	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34925681	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34988504	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35088469	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35105110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35130019	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35284336	0.81[AFR][1000 genomes]
rs35336365	0.86[EUR][1000 genomes]
rs35352075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35397078	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs35405174	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506518	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35770042	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35938199	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36097841	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4337325	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4622539	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56928975	0.96[EUR][1000 genomes]
rs58075375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66763967	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67135646	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67571561	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67600807	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67605703	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369788	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369791	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369792	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211998	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7217133	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224641	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73304123	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7503018	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8067523	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068125	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068894	1.00[EUR][1000 genomes]
rs8069531	1.00[EUR][1000 genomes]
rs8069893	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8072612	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8076347	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8078409	0.88[EUR][1000 genomes]
rs8079075	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9652838	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9652840	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9892781	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894370	0.92[EUR][1000 genomes]
rs9894680	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9894898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9896940	0.84[AMR][1000 genomes]
rs9898031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898464	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9899006	1.00[EUR][1000 genomes]
rs9899336	1.00[EUR][1000 genomes]
rs9899345	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900019	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900538	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900541	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901483	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9901917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9902621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9905881	1.00[EUR][1000 genomes]
rs9907096	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907291	1.00[EUR][1000 genomes]
rs9907564	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907794	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907966	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907988	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9908694	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909365	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909432	0.89[EUR][1000 genomes]
rs9911069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911634	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911669	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911688	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912095	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913044	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9913596	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913769	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913795	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913957	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914516	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9914665	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9914757	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9915509	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9915797	0.92[EUR][1000 genomes]
rs9916259	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941360	0.81[AFR][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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37976600-37979800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr17:37977600-37979800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:37978400-37979800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:37978400-37979800	Weak transcription	Spleen	Spleen
5	chr17:37978600-37979800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:37978600-37981400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:37978800-37979800	Strong transcription	Primary B cells from cord blood	blood
8	chr17:37979000-37981400	ZNF genes & repeats	Fetal Thymus	thymus
9	chr17:37979200-37979800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:37979200-37982400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr17:37979400-37979800	Strong transcription	Primary T cells from cord blood	blood
12	chr17:37979400-37979800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr17:37979400-37979800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr17:37979400-37980600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr17:37979400-37981000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr17:37979400-37982000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
17	chr17:37979400-37986600	ZNF genes & repeats	GM12878-XiMat	blood
18	chr17:37979400-37991800	Weak transcription	Gastric	stomach
19	chr17:37979600-37980600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
20	chr17:37979600-37980600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:37979600-37980600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
22	chr17:37979600-37981800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
23	chr17:37979600-37981800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
24	chr17:37979600-37982000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr17:37979600-37982600	ZNF genes & repeats	Thymus	Thymus

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