Variant report

Variant	rs12554940
Chromosome Location	chr9:100813194-100813195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100743537..100749297-chr9:100805473..100813198,12	K562	blood:
2	chr9:100812637..100815106-chr9:100817622..100819203,2	MCF-7	breast:
3	chr9:100812046..100815738-chr9:100818810..100820929,4	K562	blood:

Variant related genes	Relation type
ENSG00000136938	Chromatin interaction
ENSG00000095380	Chromatin interaction

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

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

rs_ID	r²[population]
rs10984930	0.86[EUR][1000 genomes]
rs10984961	0.83[EUR][1000 genomes]
rs10985045	0.81[EUR][1000 genomes]
rs10985049	0.85[EUR][1000 genomes]
rs10985050	0.85[EUR][1000 genomes]
rs12554318	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1323521	0.85[EUR][1000 genomes]
rs17806613	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2181583	0.85[EUR][1000 genomes]
rs2417728	0.81[EUR][1000 genomes]
rs2795486	1.00[ASN][1000 genomes]
rs2795488	1.00[ASN][1000 genomes]
rs2985030	1.00[ASN][1000 genomes]
rs34709283	1.00[ASN][1000 genomes]
rs34891516	1.00[ASN][1000 genomes]
rs734769	0.81[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	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100807600-100818400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:100808400-100818400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr9:100808400-100818400	Weak transcription	Fetal Thymus	thymus
4	chr9:100808600-100816200	Weak transcription	Primary B cells from cord blood	blood
5	chr9:100808800-100818200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr9:100808800-100818400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr9:100809000-100818200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr9:100809600-100815400	Weak transcription	Primary T cells from cord blood	blood
9	chr9:100810200-100818200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr9:100810200-100818400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr9:100810800-100818200	Weak transcription	HepG2	liver
12	chr9:100812000-100818200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr9:100812400-100816800	Weak transcription	GM12878-XiMat	blood
14	chr9:100812400-100817800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr9:100812400-100818200	Weak transcription	Dnd41	blood
16	chr9:100812400-100818400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr9:100812600-100814200	Strong transcription	K562	blood
18	chr9:100812800-100814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:100812800-100818200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr9:100813000-100814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:100813000-100817200	Strong transcription	Primary hematopoietic stem cells	blood
22	chr9:100813000-100817200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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