Variant report

Variant	rs2191032
Chromosome Location	chr3:45906572-45906573
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	chr3:45904500..45907321-chr3:45927932..45929435,2	K562	blood:
2	chr3:45900001..45902515-chr3:45903803..45908425,6	K562	blood:

Variant related genes	Relation type
ENSG00000173585	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12721497	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17078346	0.86[ASN][1000 genomes]
rs17078348	0.86[ASN][1000 genomes]
rs17078401	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2673059	0.89[EUR][1000 genomes]
rs2742361	0.98[EUR][1000 genomes]
rs2742362	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4683142	0.90[EUR][1000 genomes]
rs4683144	0.90[EUR][1000 genomes]
rs4683145	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843446	1.00[EUR][1000 genomes]
rs9843503	0.86[ASN][1000 genomes]
rs9856760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2191032	SLC6A20	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45890000-45907400	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:45902600-45910200	Weak transcription	Gastric	stomach
3	chr3:45905400-45911000	Weak transcription	Esophagus	oesophagus
4	chr3:45906000-45906600	Enhancers	Primary T cells from cord blood	blood
5	chr3:45906000-45907400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr3:45906200-45906600	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr3:45906200-45906800	Flanking Active TSS	Fetal Thymus	thymus
8	chr3:45906200-45907000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr3:45906200-45907000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr3:45906200-45907000	Flanking Active TSS	Thymus	Thymus
11	chr3:45906200-45907200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:45906200-45907400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:45906200-45907400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr3:45906200-45907600	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:45906400-45906600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:45906400-45907000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr3:45906400-45907000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:45906400-45907000	Flanking Active TSS	GM12878-XiMat	blood
19	chr3:45906400-45907000	Bivalent Enhancer	K562	blood
20	chr3:45906400-45907200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:45906400-45907200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:45906400-45907400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr3:45906400-45907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:45906400-45907600	Enhancers	Duodenum Mucosa	Duodenum
25	chr3:45906400-45907800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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