Variant report

Variant	rs12938749
Chromosome Location	chr17:37951848-37951849
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	chr17:37945354..37947914-chr17:37949884..37951976,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs12709364	1.00[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12938617	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12940616	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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946040	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946188	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946792	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12947480	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12950662	0.80[AFR][1000 genomes]
rs12952146	0.93[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	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13313573	0.98[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	1.00[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	0.80[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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28537796	0.83[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648398	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661421	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28695941	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723017	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28842324	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28880017	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28896477	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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34291217	1.00[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34518282	0.86[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34654193	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34758895	0.92[EUR][1000 genomes]
rs34864615	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34925681	0.89[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35105110	1.00[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	0.84[AFR][1000 genomes]
rs35336365	0.86[EUR][1000 genomes]
rs35352075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35397078	0.88[EUR][1000 genomes]
rs35405174	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35770042	0.85[AMR][1000 genomes]
rs35938199	1.00[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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66763967	0.86[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	1.00[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369792	0.86[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73304123	0.86[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8068894	1.00[EUR][1000 genomes]
rs8069531	1.00[EUR][1000 genomes]
rs8069893	0.86[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	0.85[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9896940	0.84[AMR][1000 genomes]
rs9898031	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9898464	0.83[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900538	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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9902621	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904277	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9904834	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9905881	1.00[EUR][1000 genomes]
rs9907096	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907291	1.00[EUR][1000 genomes]
rs9907564	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907794	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	0.93[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	0.93[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9911688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912095	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913044	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9913596	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9913769	0.86[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	0.91[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	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9914665	0.89[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	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9941360	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37939000-37961800	Weak transcription	Spleen	Spleen
2	chr17:37947800-37953400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr17:37948400-37955400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr17:37948400-37956800	Weak transcription	Small Intestine	intestine
5	chr17:37948800-37952000	Enhancers	Thymus	Thymus
6	chr17:37949400-37952400	Enhancers	Primary B cells from peripheral blood	blood
7	chr17:37949800-37952600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:37949800-37952800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr17:37950000-37952600	Enhancers	Fetal Thymus	thymus
10	chr17:37950000-37957000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:37950000-37957200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:37950000-37959400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr17:37950400-37956800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr17:37950600-37952800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr17:37950600-37955400	Enhancers	Primary B cells from cord blood	blood
16	chr17:37950800-37956000	Enhancers	Primary T cells from cord blood	blood
17	chr17:37951000-37952800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr17:37951600-37952400	Enhancers	GM12878-XiMat	blood
19	chr17:37951600-37955200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:37951600-37956200	Weak transcription	Dnd41	blood
21	chr17:37951600-37969800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:37951800-37952200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr17:37951800-37955200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:37951800-37955200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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