Variant report

Variant	rs73230153
Chromosome Location	chr3:111369088-111369089
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	chr3:111367918..111370721-chr3:111372627..111374789,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17281311	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17423232	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17488681	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17488841	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73228199	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73230104	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73230106	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73230108	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73230114	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230118	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230122	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230126	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230140	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230146	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73230168	0.89[AMR][1000 genomes];0.91[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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111358400-111369400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:111363200-111374600	Strong transcription	Primary T cells from cord blood	blood
3	chr3:111364600-111374200	Strong transcription	Dnd41	blood
4	chr3:111364600-111374600	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:111365400-111374800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr3:111365600-111373600	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr3:111366000-111377000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:111366200-111372400	Strong transcription	Fetal Thymus	thymus
9	chr3:111366200-111373600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:111366800-111373400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:111367000-111369800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:111367000-111372200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:111367200-111372200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:111367800-111370200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:111367800-111372200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:111368000-111370200	Weak transcription	Small Intestine	intestine
17	chr3:111368200-111374600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:111368400-111369200	Enhancers	Gastric	stomach
19	chr3:111368400-111370200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:111368600-111369400	Enhancers	Fetal Stomach	stomach
21	chr3:111368600-111370200	Enhancers	Stomach Mucosa	stomach
22	chr3:111368600-111370400	Strong transcription	Thymus	Thymus
23	chr3:111368600-111370800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:111368800-111370600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:111368800-111373000	Weak transcription	Pancreas	Pancrea
26	chr3:111369000-111369600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr3:111369000-111370400	Genic enhancers	Primary B cells from peripheral blood	blood

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