Variant report

Variant	rs10042575
Chromosome Location	chr5:118405146-118405147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:118404864-118405153	HepG2	liver:	n/a	chr5:118405134-118405147 chr5:118405015-118405026
2	CEBPB	chr5:118404874-118405184	K562	blood:	n/a	chr5:118405134-118405147 chr5:118405015-118405026
3	CEBPB	chr5:118404857-118405195	K562	blood:	n/a	chr5:118405134-118405147 chr5:118405015-118405026
4	CEBPB	chr5:118404893-118405620	A549	lung:	n/a	chr5:118405134-118405147 chr5:118405015-118405026

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118322493..118325395-chr5:118402550..118406560,4	K562	blood:

Variant related genes	Relation type
DMXL1	TF binding region
ENSG00000239011	TF binding region
ENSG00000169570	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10037191	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10037944	0.81[ASN][1000 genomes]
rs28595054	0.96[AFR][1000 genomes];0.81[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	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118396000-118405600	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118399600-118405600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:118399600-118405800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:118399600-118405800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:118399800-118405600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:118399800-118405800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:118399800-118405800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:118399800-118405800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:118400000-118405400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:118400000-118405400	Weak transcription	Colonic Mucosa	Colon
11	chr5:118400000-118405600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:118400000-118405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:118400000-118405800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:118400000-118405800	Weak transcription	HSMMtube	muscle
15	chr5:118400200-118405400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:118400200-118405400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:118400200-118405400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:118400200-118405400	Weak transcription	HepG2	liver
19	chr5:118400200-118405600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:118400200-118405600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:118400200-118405600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:118400200-118405800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:118400400-118405800	Weak transcription	GM12878-XiMat	blood
24	chr5:118401200-118405600	Weak transcription	Osteobl	bone
25	chr5:118402800-118405800	Weak transcription	Primary T cells from cord blood	blood
26	chr5:118403200-118405600	Weak transcription	Brain Anterior Caudate	brain
27	chr5:118404200-118405400	Weak transcription	Lung	lung
28	chr5:118405000-118405200	Enhancers	K562	blood

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