Variant report

Variant	rs1469336
Chromosome Location	chr4:96014285-96014286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:96002491..96004992-chr4:96012725..96014797,2	MCF-7	breast:
2	chr4:95678022..95682059-chr4:96013803..96017357,5	MCF-7	breast:
3	chr4:95679588..95681847-chr4:96013272..96015095,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249599	Chromatin interaction
ENSG00000138696	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1023800	1.00[CHB][hapmap]
rs1023801	1.00[CHB][hapmap]
rs1023802	1.00[CHB][hapmap]
rs1023803	1.00[CHB][hapmap]
rs1023804	1.00[CHB][hapmap]
rs11097454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1160695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12507710	1.00[CHB][hapmap]
rs13113714	0.92[ASN][1000 genomes]
rs13128586	0.81[ASN][1000 genomes]
rs13129054	0.81[ASN][1000 genomes]
rs13129062	0.88[ASN][1000 genomes]
rs13145631	1.00[CHB][hapmap]
rs1318972	1.00[CHB][hapmap]
rs1347346	0.88[ASN][1000 genomes]
rs1434546	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1434548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1444921	0.88[ASN][1000 genomes]
rs1444926	0.84[ASN][1000 genomes]
rs1470409	0.84[ASN][1000 genomes]
rs1530459	1.00[CHB][hapmap]
rs1545326	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1545327	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1545329	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1560909	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1821451	0.92[ASN][1000 genomes]
rs1822826	0.84[ASN][1000 genomes]
rs1834718	0.88[ASN][1000 genomes]
rs1838501	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs1867542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2028761	1.00[CHB][hapmap]
rs2044328	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs2120832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2865398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755874	1.00[CHB][hapmap]
rs3755875	1.00[CHB][hapmap]
rs3775033	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3775034	0.80[ASN][1000 genomes]
rs4145993	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4331783	0.84[ASN][1000 genomes]
rs4397000	0.84[ASN][1000 genomes]
rs4426786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4450936	0.88[ASN][1000 genomes]
rs4588466	0.88[ASN][1000 genomes]
rs4699827	0.88[ASN][1000 genomes]
rs4699828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6532520	1.00[CHB][hapmap]
rs6532523	0.81[ASN][1000 genomes]
rs6815448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6816059	0.88[ASN][1000 genomes]
rs6820199	0.84[ASN][1000 genomes]
rs6836504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6840826	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6841746	0.88[ASN][1000 genomes]
rs6843668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6844029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6846665	1.00[CHB][hapmap]
rs6853845	0.92[ASN][1000 genomes]
rs6855395	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs716190	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7665167	1.00[CHB][hapmap];0.82[JPT][hapmap];0.98[ASN][1000 genomes]
rs7698787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs920912	1.00[CHB][hapmap]
rs965447	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs973887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs996659	0.88[ASN][1000 genomes]
rs9995627	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96006800-96015400	Weak transcription	HUVEC	blood vessel
2	chr4:96009200-96017000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:96009600-96015400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:96009600-96023600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:96012200-96015000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:96012400-96015800	Active TSS	Thymus	Thymus
7	chr4:96012400-96016400	Active TSS	A549	lung
8	chr4:96012400-96016600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:96012600-96014400	Enhancers	Primary T cells from cord blood	blood
10	chr4:96012800-96015600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr4:96012800-96016600	Active TSS	Fetal Thymus	thymus
12	chr4:96013000-96015400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:96014000-96014600	Active TSS	Dnd41	blood
14	chr4:96014000-96015000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:96014000-96026400	Weak transcription	Aorta	Aorta
16	chr4:96014200-96014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:96014200-96014400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:96014200-96014400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:96014200-96026400	Weak transcription	Psoas Muscle	Psoas

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