Variant report

Variant	rs4978119
Chromosome Location	chr9:21444820-21444821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10811546	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10811570	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10964990	0.87[ASN][1000 genomes]
rs10964991	0.87[ASN][1000 genomes]
rs10964992	0.87[ASN][1000 genomes]
rs10965000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10965001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10965012	1.00[EUR][1000 genomes]
rs10965013	1.00[EUR][1000 genomes]
rs10965017	1.00[EUR][1000 genomes]
rs10965018	1.00[EUR][1000 genomes]
rs10965020	1.00[EUR][1000 genomes]
rs10965021	1.00[EUR][1000 genomes]
rs10965022	1.00[EUR][1000 genomes]
rs10965023	1.00[EUR][1000 genomes]
rs10965032	1.00[EUR][1000 genomes]
rs10965033	1.00[EUR][1000 genomes]
rs10965037	1.00[EUR][1000 genomes]
rs10965045	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10965051	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11532905	1.00[EUR][1000 genomes]
rs12236551	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12551723	1.00[EUR][1000 genomes]
rs12554691	1.00[EUR][1000 genomes]
rs1412396	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1412397	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1537280	1.00[EUR][1000 genomes]
rs1537281	1.00[EUR][1000 genomes]
rs16938425	1.00[EUR][1000 genomes]
rs16938434	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2039381	1.00[EUR][1000 genomes]
rs7030231	0.83[ASN][1000 genomes]
rs7038604	0.84[ASN][1000 genomes]
rs7048384	0.82[ASN][1000 genomes]
rs9644820	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9644856	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9721887	1.00[EUR][1000 genomes]
rs991793	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv466297	chr9:21391698-21507589	Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv613758	chr9:21391698-21507589	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892739	chr9:21407250-21470520	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr9:21443600-21445000	Enhancers	Primary B cells from peripheral blood	blood
2	chr9:21443600-21445200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr9:21443600-21445200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr9:21443600-21445400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr9:21443800-21445000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr9:21443800-21445000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:21443800-21445000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr9:21443800-21445000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr9:21443800-21445200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr9:21443800-21445200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:21444000-21445200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr9:21444200-21445000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:21444200-21445000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr9:21444200-21445000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr9:21444400-21446600	Enhancers	Rectal Smooth Muscle	rectum
16	chr9:21444400-21447000	Enhancers	Colon Smooth Muscle	Colon
17	chr9:21444600-21445000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr9:21444600-21445000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr9:21444600-21445000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr9:21444600-21445000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr9:21444600-21445000	Enhancers	Duodenum Mucosa	Duodenum
22	chr9:21444600-21445200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr9:21444800-21445000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr9:21444800-21445000	Enhancers	GM12878-XiMat	blood
25	chr9:21444800-21445200	Enhancers	Primary B cells from cord blood	blood
26	chr9:21444800-21445200	Enhancers	Primary T cells from cord blood	blood

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