Variant report

Variant	rs12349452
Chromosome Location	chr9:100810405-100810406
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100679327..100688755-chr9:100804829..100810921,12	K562	blood:
2	chr9:100743537..100749297-chr9:100805473..100813198,12	K562	blood:
3	chr9:100745241..100747165-chr9:100808229..100811065,2	MCF-7	breast:
4	chr9:100697076..100699494-chr9:100808652..100811016,2	K562	blood:

Variant related genes	Relation type
ENSG00000136938	Chromatin interaction
ENSG00000136932	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1058446	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10818454	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.94[ASN][1000 genomes]
rs10818468	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10818472	1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs10984977	0.91[ASN][1000 genomes]
rs12348197	0.86[ASN][1000 genomes]
rs16912590	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs28489815	0.97[ASN][1000 genomes]
rs4300105	0.81[AFR][1000 genomes]
rs4743157	0.95[YRI][hapmap]
rs55978131	0.83[AFR][1000 genomes]
rs6478539	0.91[YRI][hapmap]
rs7852752	0.83[YRI][hapmap]
rs7855984	1.00[ASN][1000 genomes]
rs7869762	0.91[YRI][hapmap]
rs7874696	1.00[ASN][1000 genomes]
rs9969738	0.97[ASN][1000 genomes]
rs9969813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][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	nsv482635	chr9:100775549-100953239	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3483159	chr9:100806167-100814815	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv3483160	chr9:100806167-100814815	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100807600-100818400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:100808000-100810600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr9:100808400-100810600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr9:100808400-100818400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr9:100808400-100818400	Weak transcription	Fetal Thymus	thymus
6	chr9:100808600-100812400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr9:100808600-100812800	Enhancers	Primary hematopoietic stem cells	blood
8	chr9:100808600-100816200	Weak transcription	Primary B cells from cord blood	blood
9	chr9:100808800-100810800	Enhancers	HepG2	liver
10	chr9:100808800-100818200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:100808800-100818400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr9:100809000-100818200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr9:100809200-100811000	Transcr. at gene 5' and 3'	K562	blood
14	chr9:100809400-100810600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:100809600-100810600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:100809600-100815400	Weak transcription	Primary T cells from cord blood	blood
17	chr9:100810000-100810600	Transcr. at gene 5' and 3'	Dnd41	blood
18	chr9:100810200-100810600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr9:100810200-100811600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr9:100810200-100818200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr9:100810200-100818400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr9:100810400-100810600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr9:100810400-100810800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:100810400-100810800	Flanking Active TSS	GM12878-XiMat	blood

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