Variant report

Variant	rs286159
Chromosome Location	chr5:59933068-59933069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59932997..59935929-chr5:59937074..59939213,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10516154	1.00[ASN][1000 genomes]
rs11957512	1.00[ASN][1000 genomes]
rs11960912	1.00[ASN][1000 genomes]
rs16878190	1.00[ASN][1000 genomes]
rs16878304	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061252	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409763	1.00[ASN][1000 genomes]
rs2441051	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591635	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2606688	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286151	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286152	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286157	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34414908	0.92[AFR][1000 genomes]
rs3857237	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887175	1.00[ASN][1000 genomes]
rs3909458	1.00[ASN][1000 genomes]
rs6872509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728865	1.00[ASN][1000 genomes]
rs9686946	1.00[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	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59894800-59933600	Weak transcription	Hela-S3	cervix
2	chr5:59920400-59939800	Weak transcription	HSMM	muscle
3	chr5:59920600-59947800	Weak transcription	HUVEC	blood vessel
4	chr5:59923400-59939800	Weak transcription	K562	blood
5	chr5:59923800-59933400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:59924400-59941800	Weak transcription	Fetal Brain Female	brain
7	chr5:59924600-59936200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:59924800-59936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:59925000-59942800	Strong transcription	Dnd41	blood
10	chr5:59925200-59947200	Weak transcription	Pancreas	Pancrea
11	chr5:59926000-59933800	Strong transcription	Fetal Intestine Large	intestine
12	chr5:59926200-59933400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:59926400-59967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:59926600-59946200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:59927200-59944000	Weak transcription	Fetal Muscle Leg	muscle
16	chr5:59927400-59935200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:59927400-59941200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:59928400-59942800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:59928600-59935800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:59929400-59934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:59929400-59942800	Weak transcription	Fetal Intestine Small	intestine
22	chr5:59929400-59944400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:59929400-59947400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:59929400-59954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:59929600-59933400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:59929600-59933600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:59929600-59935200	Weak transcription	Fetal Thymus	thymus
28	chr5:59929600-59948000	Weak transcription	NHEK	skin
29	chr5:59929800-59933200	Weak transcription	HMEC	breast
30	chr5:59930000-59933600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:59930000-59933800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:59930000-59934200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:59930000-59943400	Strong transcription	Placenta	Placenta
34	chr5:59930200-59935400	Weak transcription	Thymus	Thymus
35	chr5:59930200-59936400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:59930200-59936400	Weak transcription	GM12878-XiMat	blood
37	chr5:59930200-59939600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:59930200-59941200	Weak transcription	Fetal Lung	lung
39	chr5:59930800-59938800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:59930800-59939200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:59931000-59933600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr5:59931000-59935800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr5:59931200-59933200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:59931200-59934200	Weak transcription	Fetal Brain Male	brain
45	chr5:59931200-59935200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:59931200-59942600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:59931400-59933600	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr5:59931400-59934000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:59931400-59941400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:59931800-59934800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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