Variant report

Variant	rs6533847
Chromosome Location	chr4:79574354-79574355
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:79536352..79538431-chr4:79574021..79576567,2	K562	blood:
2	chr4:79569060..79573102-chr4:79573355..79577371,7	K562	blood:
3	chr4:79563449..79567560-chr4:79569303..79574487,6	K562	blood:
4	chr4:79564649..79566835-chr4:79572826..79575093,2	K562	blood:
5	chr4:79571726..79575122-chr4:79694078..79695730,3	K562	blood:
6	chr4:79573524..79575616-chr4:79695748..79697732,2	MCF-7	breast:
7	chr4:79573896..79576451-chr4:79609109..79611530,2	K562	blood:
8	chr4:79573461..79577118-chr4:79700688..79703892,3	K562	blood:
9	chr4:79573609..79576927-chr4:79583175..79586831,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251442	Chromatin interaction
ENSG00000138756	Chromatin interaction
ENSG00000260278	Chromatin interaction
ENSG00000251019	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10001246	0.91[CEU][hapmap]
rs10007186	0.82[CEU][hapmap]
rs1108907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11724268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11733032	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11733269	0.90[CEU][hapmap]
rs11736376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11736602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs11942573	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs12233694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12711032	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13120630	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13138005	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4306980	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4353930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6533821	0.90[CEU][hapmap]
rs6533825	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs6533835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6533842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6811782	0.88[JPT][hapmap]
rs6812441	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6834587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs6835210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6838443	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6840592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6841654	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6845893	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6854055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6858740	0.88[JPT][hapmap]
rs7317	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7657082	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7680766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9998136	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
3	chr4:79564400-79589600	Weak transcription	Lung	lung
4	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
7	chr4:79568000-79575600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
9	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
10	chr4:79569600-79575400	Enhancers	NHDF-Ad	bronchial
11	chr4:79570400-79574800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:79571000-79576400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:79571000-79576600	Enhancers	Osteobl	bone
14	chr4:79571800-79574800	Weak transcription	Placenta	Placenta
15	chr4:79571800-79574800	Weak transcription	NH-A	brain
16	chr4:79571800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:79571800-79578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:79572000-79574800	Weak transcription	Fetal Intestine Large	intestine
19	chr4:79572000-79575600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:79572000-79576600	Weak transcription	Spleen	Spleen
21	chr4:79572200-79574800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:79572200-79574800	Weak transcription	A549	lung
23	chr4:79572200-79578000	Enhancers	K562	blood
24	chr4:79572400-79574800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:79572800-79575000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:79572800-79575800	Weak transcription	Primary B cells from cord blood	blood
27	chr4:79572800-79576000	Enhancers	Brain Hippocampus Middle	brain
28	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
29	chr4:79573000-79574800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:79573000-79574800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:79573000-79576000	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:79573000-79576600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:79573000-79579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:79573200-79574800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:79573400-79575000	Enhancers	Brain Germinal Matrix	brain
36	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:79573600-79574400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:79573600-79574400	Enhancers	Brain Angular Gyrus	brain
40	chr4:79573600-79574400	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr4:79573600-79578000	Enhancers	Primary hematopoietic stem cells	blood
42	chr4:79573800-79575200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:79573800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:79573800-79575400	Weak transcription	Fetal Stomach	stomach
45	chr4:79573800-79576200	Enhancers	Brain Substantia Nigra	brain
46	chr4:79573800-79577400	Weak transcription	Dnd41	blood
47	chr4:79573800-79578200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:79573800-79578800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr4:79573800-79579000	Weak transcription	HSMM	muscle
50	chr4:79573800-79579000	Weak transcription	NHEK	skin

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