Variant report

Variant	rs1997790
Chromosome Location	chr20:24371062-24371063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2050202	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103702	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2206646	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223648	1.00[MKK][hapmap]
rs2892180	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6036762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036766	0.95[EUR][1000 genomes]
rs6036770	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6049637	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049640	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049641	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049644	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049656	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6049660	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6106872	0.90[EUR][1000 genomes]
rs6106873	0.90[EUR][1000 genomes]
rs6132729	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932418	0.86[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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv833946	chr20:24320375-24490702	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1997790	INSM1	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24366800-24371600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr20:24367400-24371600	Enhancers	Fetal Thymus	thymus
3	chr20:24368400-24371600	Enhancers	Thymus	Thymus
4	chr20:24368800-24371600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr20:24369000-24371400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr20:24369000-24371600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr20:24369200-24371600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr20:24369400-24372200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr20:24369600-24371600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr20:24369800-24371200	Enhancers	Primary hematopoietic stem cells	blood
11	chr20:24369800-24371400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr20:24369800-24371400	Flanking Active TSS	Dnd41	blood
13	chr20:24369800-24371600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr20:24370000-24371200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr20:24370400-24371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:24370400-24372800	Enhancers	Primary T cells from cord blood	blood
17	chr20:24370600-24371600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr20:24370600-24376200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:24370600-24387400	Weak transcription	Right Atrium	heart
20	chr20:24370800-24371400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr20:24371000-24371200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr20:24371000-24371200	Enhancers	Brain Substantia Nigra	brain
23	chr20:24371000-24371400	Enhancers	Primary B cells from peripheral blood	blood

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