Variant report

Variant	rs1465446
Chromosome Location	chr5:95202236-95202237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95199646..95202540-chr5:95204108..95206460,2	MCF-7	breast:
2	chr5:95199907..95202755-chr5:95294565..95297525,3	MCF-7	breast:
3	chr5:95201904..95203629-chr5:95296910..95298882,2	K562	blood:
4	chr5:95191104..95193650-chr5:95201052..95202970,2	MCF-7	breast:
5	chr5:95201531..95203525-chr5:95206404..95208684,2	K562	blood:

Variant related genes	Relation type
ENSG00000251314	Chromatin interaction
ENSG00000118985	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1004654	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][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]
rs10476660	0.82[TSI][hapmap]
rs12515492	1.00[CHD][hapmap]
rs12659828	0.88[CEU][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs6873611	0.82[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
2	chr5:95194200-95203000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:95195000-95206400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:95195000-95208400	Weak transcription	Ovary	ovary
5	chr5:95195200-95217400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:95195600-95206200	Weak transcription	Brain Anterior Caudate	brain
7	chr5:95196800-95203000	Enhancers	Fetal Intestine Large	intestine
8	chr5:95197200-95203200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:95197800-95204800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:95198200-95202600	Weak transcription	HMEC	breast
11	chr5:95198600-95206200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:95199000-95204200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:95199000-95204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:95199200-95202600	Weak transcription	NH-A	brain
15	chr5:95199200-95206000	Weak transcription	Fetal Heart	heart
16	chr5:95199400-95203200	Enhancers	Osteobl	bone
17	chr5:95199400-95203400	Weak transcription	Fetal Thymus	thymus
18	chr5:95199400-95204000	Weak transcription	Primary T cells from cord blood	blood
19	chr5:95199400-95204000	Weak transcription	Dnd41	blood
20	chr5:95199400-95204400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:95199400-95204400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:95199400-95205000	Weak transcription	HUVEC	blood vessel
23	chr5:95199400-95205200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:95199400-95210000	Weak transcription	Right Ventricle	heart
25	chr5:95199600-95204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:95200000-95202800	Weak transcription	HSMM	muscle
27	chr5:95200000-95203200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:95200000-95206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:95200000-95206200	Weak transcription	Esophagus	oesophagus
30	chr5:95200000-95206200	Weak transcription	Psoas Muscle	Psoas
31	chr5:95200200-95202400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:95200400-95205200	Weak transcription	Adipose Nuclei	Adipose
33	chr5:95200800-95205400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:95201000-95202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:95201000-95205400	Weak transcription	Liver	Liver
36	chr5:95201000-95205800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:95201200-95202600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:95201200-95202800	Enhancers	Hela-S3	cervix
39	chr5:95201200-95205200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr5:95201200-95205200	Weak transcription	Left Ventricle	heart
41	chr5:95201200-95205400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:95201200-95205800	Weak transcription	NHLF	lung
43	chr5:95201200-95206000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:95201200-95206000	Weak transcription	Colonic Mucosa	Colon
45	chr5:95201200-95206000	Weak transcription	Lung	lung
46	chr5:95201200-95206000	Weak transcription	Right Atrium	heart
47	chr5:95201200-95206000	Weak transcription	Small Intestine	intestine
48	chr5:95201400-95203200	Enhancers	HepG2	liver
49	chr5:95201400-95212200	Weak transcription	Placenta	Placenta
50	chr5:95201800-95203600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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