Variant report

Variant	rs73985221
Chromosome Location	chr17:37982979-37982980
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	chr17:37980608..37984471-chr17:37984850..37987192,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1453558	1.00[EUR][1000 genomes]
rs16965388	1.00[EUR][1000 genomes]
rs28623237	1.00[EUR][1000 genomes]
rs59246468	1.00[EUR][1000 genomes]
rs73985219	0.87[AMR][1000 genomes]
rs73985222	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985223	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73985224	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73985226	1.00[EUR][1000 genomes]
rs73985227	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985229	1.00[EUR][1000 genomes]
rs73985230	1.00[EUR][1000 genomes]
rs8071135	0.81[AFR][1000 genomes];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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37979400-37986600	ZNF genes & repeats	GM12878-XiMat	blood
2	chr17:37979400-37991800	Weak transcription	Gastric	stomach
3	chr17:37980200-37986600	Strong transcription	Primary T cells from cord blood	blood
4	chr17:37980400-37984000	Weak transcription	Liver	Liver
5	chr17:37980600-37983200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr17:37980600-37985000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:37980600-37985800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:37980600-37986400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:37980600-37986600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:37980800-37984000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:37980800-37985800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:37981000-37985000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:37981000-37987200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr17:37981000-37987400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:37981400-37985400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:37981400-37985800	Strong transcription	Fetal Thymus	thymus
17	chr17:37981400-37987200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr17:37981600-37988600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:37981800-37986600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr17:37981800-37988000	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr17:37982000-37987600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr17:37982200-37985000	Strong transcription	Spleen	Spleen
23	chr17:37982400-37991000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr17:37982600-37985800	Strong transcription	Thymus	Thymus
25	chr17:37982600-37993800	Strong transcription	Primary B cells from cord blood	blood
26	chr17:37982800-37985600	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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