Variant report

Variant	rs500804
Chromosome Location	chr15:40393262-40393263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40361459..40366979-chr15:40389781..40395512,5	MCF-7	breast:
2	chr15:40377744..40380085-chr15:40392736..40394463,2	K562	blood:
3	chr15:40345188..40347486-chr15:40391657..40395509,4	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11631335	0.91[EUR][1000 genomes]
rs12592048	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs495654	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537455	0.84[CEU][hapmap]
rs543399	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs568652	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs569539	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs675173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs770470	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40383400-40394000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr15:40387200-40395600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:40387200-40397800	Enhancers	Fetal Muscle Leg	muscle
4	chr15:40387400-40395200	Enhancers	NHLF	lung
5	chr15:40387600-40395200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:40387600-40397200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr15:40388000-40393800	Enhancers	Fetal Kidney	kidney
8	chr15:40388600-40393400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr15:40389000-40394400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr15:40389200-40400000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:40389600-40393800	Enhancers	HUVEC	blood vessel
12	chr15:40389800-40393600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr15:40389800-40394000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:40389800-40394200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr15:40389800-40400400	Enhancers	Small Intestine	intestine
16	chr15:40390000-40393400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr15:40390200-40394200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr15:40390400-40399800	Transcr. at gene 5' and 3'	Thymus	Thymus
19	chr15:40390800-40394000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:40390800-40394200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:40391000-40393400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:40391000-40393800	Weak transcription	HMEC	breast
23	chr15:40391000-40394600	Weak transcription	Fetal Brain Male	brain
24	chr15:40391000-40395000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:40391000-40395000	Enhancers	Adipose Nuclei	Adipose
26	chr15:40391000-40399800	Enhancers	Liver	Liver
27	chr15:40391200-40395200	Enhancers	Duodenum Mucosa	Duodenum
28	chr15:40391200-40398800	Enhancers	Placenta	Placenta
29	chr15:40391400-40393400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr15:40391400-40393400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:40391400-40393400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:40391400-40393400	Enhancers	K562	blood
33	chr15:40391400-40393600	Enhancers	HepG2	liver
34	chr15:40391400-40393600	Enhancers	Osteobl	bone
35	chr15:40391400-40394200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:40391400-40394200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr15:40391400-40394200	Enhancers	Hela-S3	cervix
38	chr15:40391400-40394400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr15:40391400-40394600	Weak transcription	Aorta	Aorta
40	chr15:40391400-40394800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:40391400-40394800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr15:40391400-40395000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr15:40391400-40395000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr15:40391400-40395000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:40391400-40395200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr15:40391400-40395400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:40391400-40395400	Enhancers	HSMM	muscle
48	chr15:40391400-40396600	Genic enhancers	Fetal Thymus	thymus
49	chr15:40391400-40396800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr15:40391400-40397600	Enhancers	NH-A	brain

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