Variant report

Variant	rs11241482
Chromosome Location	chr5:118399753-118399754
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118398187..118399775-chr5:118406820..118408507,2	MCF-7	breast:
2	chr5:118396867..118401379-chr5:118402129..118406971,7	K562	blood:
3	chr5:118397443..118401188-chr5:118403593..118406456,7	K562	blood:

Variant related genes	Relation type
ENSG00000239011	Chromatin interaction
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10056088	0.83[ASN][1000 genomes]
rs10900728	0.84[ASN][1000 genomes]
rs11241496	0.80[YRI][hapmap]
rs12188483	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[ASN][1000 genomes]
rs12518168	0.84[ASN][1000 genomes]
rs12657132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]
rs13189818	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1553544	0.90[YRI][hapmap]
rs2036565	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3923326	1.00[CHB][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs3992621	0.84[ASN][1000 genomes]
rs4565243	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4639262	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs60504316	0.87[ASN][1000 genomes]
rs62374133	0.86[ASN][1000 genomes]
rs6595176	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs6874227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[ASN][1000 genomes]
rs6887690	0.80[YRI][hapmap]
rs6893733	1.00[JPT][hapmap]
rs6894429	1.00[JPT][hapmap]
rs7706218	0.90[YRI][hapmap]
rs7727906	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3392804	chr5:118398003-118400001	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 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	chr5:118399000-118400200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:118399000-118400200	Enhancers	Duodenum Mucosa	Duodenum
4	chr5:118399000-118400200	Enhancers	HepG2	liver
5	chr5:118399200-118399800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:118399200-118399800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:118399200-118399800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:118399200-118399800	Enhancers	Fetal Intestine Small	intestine
9	chr5:118399200-118399800	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr5:118399200-118399800	Flanking Active TSS	GM12878-XiMat	blood
11	chr5:118399200-118399800	Enhancers	Hela-S3	cervix
12	chr5:118399200-118400000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:118399200-118400000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:118399200-118400000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:118399200-118400000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:118399200-118400000	Enhancers	Stomach Mucosa	stomach
17	chr5:118399200-118400200	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:118399200-118400200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:118399200-118400200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:118399200-118400200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:118399200-118400200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:118399200-118400200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr5:118399200-118400200	Enhancers	K562	blood
24	chr5:118399200-118400200	Enhancers	Osteobl	bone
25	chr5:118399400-118399800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:118399400-118399800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr5:118399400-118399800	Enhancers	HMEC	breast
28	chr5:118399400-118400000	Enhancers	HSMMtube	muscle
29	chr5:118399600-118399800	Enhancers	Colon Smooth Muscle	Colon
30	chr5:118399600-118399800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:118399600-118400000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr5:118399600-118400200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:118399600-118405600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:118399600-118405800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:118399600-118405800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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