Variant report

Variant	rs12950662
Chromosome Location	chr17:37979541-37979542
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: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12709364	0.80[AFR][1000 genomes]
rs12938617	0.81[AFR][1000 genomes]
rs12938749	0.80[AFR][1000 genomes]
rs12940616	0.84[AFR][1000 genomes]
rs12943012	0.83[AFR][1000 genomes]
rs12945253	0.81[AFR][1000 genomes]
rs12946188	0.81[AFR][1000 genomes]
rs12946792	0.81[AFR][1000 genomes]
rs12948686	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12952146	0.84[AFR][1000 genomes]
rs1510475	0.80[AFR][1000 genomes]
rs28392589	0.92[AFR][1000 genomes]
rs28420939	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28580691	0.81[AFR][1000 genomes]
rs28651240	0.85[AFR][1000 genomes]
rs28880017	0.84[AFR][1000 genomes]
rs28896477	0.89[AFR][1000 genomes]
rs34053394	0.84[AFR][1000 genomes]
rs34291217	0.80[AFR][1000 genomes]
rs34455157	0.82[AFR][1000 genomes]
rs34485135	0.81[AFR][1000 genomes]
rs34518282	0.81[AFR][1000 genomes]
rs34640000	0.84[AFR][1000 genomes]
rs34864615	0.86[AFR][1000 genomes]
rs34925681	0.84[AFR][1000 genomes]
rs35088469	0.90[AFR][1000 genomes]
rs35105110	0.80[AFR][1000 genomes]
rs35284336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35352075	0.80[AFR][1000 genomes]
rs35506518	0.80[AFR][1000 genomes]
rs35789812	0.86[AFR][1000 genomes]
rs35938199	0.80[AFR][1000 genomes]
rs58075375	0.84[AFR][1000 genomes]
rs66763967	0.81[AFR][1000 genomes]
rs67605703	0.80[AFR][1000 genomes]
rs71369791	0.81[AFR][1000 genomes]
rs71369792	0.81[AFR][1000 genomes]
rs73302152	0.80[AFR][1000 genomes]
rs73304137	0.82[AFR][1000 genomes]
rs8069893	0.81[AFR][1000 genomes]
rs9894680	0.81[AFR][1000 genomes]
rs9894898	0.80[AFR][1000 genomes]
rs9898031	0.84[AFR][1000 genomes]
rs9900019	0.81[AFR][1000 genomes]
rs9901617	0.81[AFR][1000 genomes]
rs9901917	0.84[AFR][1000 genomes]
rs9902621	0.84[AFR][1000 genomes]
rs9904277	0.84[AFR][1000 genomes]
rs9904834	0.86[AFR][1000 genomes]
rs9908983	0.84[AFR][1000 genomes]
rs9911069	0.84[AFR][1000 genomes]
rs9911669	0.80[AFR][1000 genomes]
rs9911688	0.80[AFR][1000 genomes]
rs9913769	0.81[AFR][1000 genomes]
rs9913957	0.83[AFR][1000 genomes]
rs9914302	0.81[AFR][1000 genomes]
rs9914665	0.84[AFR][1000 genomes]
rs9915509	0.85[AFR][1000 genomes]
rs9916369	0.85[AFR][1000 genomes]
rs9941360	0.96[AFR][1000 genomes];1.00[AMR][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	chr17:37978200-37979600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr17:37978400-37979600	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr17:37978400-37979600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr17:37978400-37979600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:37978400-37979800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:37978400-37979800	Weak transcription	Spleen	Spleen
9	chr17:37978600-37979600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr17:37978600-37979600	Strong transcription	Thymus	Thymus
11	chr17:37978600-37979800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:37978600-37981400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:37978800-37979600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:37978800-37979800	Strong transcription	Primary B cells from cord blood	blood
15	chr17:37979000-37981400	ZNF genes & repeats	Fetal Thymus	thymus
16	chr17:37979200-37979800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:37979200-37982400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
18	chr17:37979400-37979800	Strong transcription	Primary T cells from cord blood	blood
19	chr17:37979400-37979800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr17:37979400-37979800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:37979400-37980600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
22	chr17:37979400-37981000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr17:37979400-37982000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
24	chr17:37979400-37986600	ZNF genes & repeats	GM12878-XiMat	blood
25	chr17:37979400-37991800	Weak transcription	Gastric	stomach

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